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Significant Items in House, Senate, and Conference Appropriations Committee Reports
FY 2001 Budget

February 2000 (historical)

FY 2000 House Appropriations Committee Report Language (H. Rpt. 106-370)

Item

Alopecia Areata -- NIAMS has cosponsored three International Research Workshops on alopecia areata, presenting research which has been both government and Foundation funded. The Committee commends NIAMS for its cooperative and innovative private/public initiatives in seeking a cure for this disease. NIAMS is encouraged to enhance its role in seeking a cure through tested research strategies and partnerships with the private sector. The Director of the Institute should be prepared to testify on this effort during the FY 2001 appropriations hearing. (p. 96)

Action taken or to be taken

Alopecia areata is a common disease of the hair follicle that may have a profound effect on the quality of life, particularly for children. Recent advances related to this disorder include a project supported by NIAMS which demonstrated the utility of a mouse model for studying alopecia areata, particularly for understanding the immunological aspects of this disease.

The Third International Research Workshop on Alopecia Areata, which the Institute sponsored in the fall of 1998, brought together investigators from the United States and around the world for an exchange of recent advances in this disease and a discussion of future research directions. The workshop capitalized on the recent explosion of activity in the area of hair biology and diseases, including alopecia areata. Current studies are pursuing a variety of state-of-the-art approaches, such as investigations of hair stem cells and the use of the hair follicle for gene therapy. A number of these areas will be addressed at two upcoming NIAMS-supported workshops -- one on gene therapy using skin, to be held in the spring of 2000, and another on mouse models of human skin and hair disease, scheduled for the fall of 2000.

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Bone Diseases -- Over 30 million Americans suffer from some form of bone disease. The Committee encourages NIAMS to enhance its research on diseases such as osteoporosis, Paget's disease, osteogenesis imperfecta, multiple myeloma, and other bone diseases with a special emphasis on the role that proteins such as Cbfa-1 and parathyroid hormones and bisphosphonates play in the growth and development of bone; on research and development of selective estrogen receptor modulators (SERMS) which offer promise in the prevention and treatment of osteoporosis and related bone diseases; and on the diagnosis and treatment of osteoporosis as it relates to non-Caucasian women and all men. The Committee also encourages the Institute to follow-up on research opportunities arising out of the 1999 NIH workshop on Osteogenesis Imperfecta. (p. 96)

Action taken or to be taken

The Institute considers research on osteoporosis and related bone diseases such as Paget's disease and osteogenesis imperfecta a high priority. The Institute plans to promote basic, clinical, and translational research through a variety of initiatives in the coming fiscal years, including sponsoring a scientific workshop -- along with a number of other NIH components -- on Selective Estrogen Receptor Modulators (SERMS) in the spring of 2000. This meeting will bring together experts to discuss basic research, as well as clinical applications of SERMS in osteoporosis, cancer, and cardiovascular disease.

Important recent efforts include the funding, along with the National Institute on Aging and the National Cancer Institute, of a major study of osteoporosis in men. The Institute is also supporting research on combination drug therapies for osteoporosis. In addition, the NIAMS and other NIH components are planning a Consensus Development Conference on Osteoporosis Prevention, Diagnosis, and Therapy in the spring of 2000.

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often for little or no apparent cause. In September of 1999, the Institute sponsored a Scientific Workshop on New Research Strategies in Osteogenesis Imperfecta, in cooperation with the Osteogenesis Imperfecta Foundation and the Children's Brittle Bone Foundation. The workshop was designed to reflect a diversity of viewpoints regarding recent reports on the clinical treatment of OI, and to explore areas of basic bone biology that can contribute to improved clinical approaches to this disease. In follow-up to the workshop, the NIAMS plans to launch an initiative to stimulate OI research in areas that have been identified as especially promising.

Item

Connective Tissue Biopolymer Research -- The Committee encourages NIAMS to pursue research on designing and developing new methods to use polymers in connective tissue repair, replacement and regeneration. The Institute is also encouraged to undertake training activities to ensure a viable workforce in the emerging field of polymer material tissue engineering. (p. 96)

Action taken or to be taken

NIAMS is an active member of the NIH Bioengineering Consortium, or BECON, and has supported several research projects related to tissue engineering, biomimetics, and medical implant science, including studies on tissue engineering for growing joints. The Institute is also involved in the agency's new Bioengineering Research Partnerships (BRP) initiative, which seeks to support multidisciplinary studies that bring together bioengineering expertise with basic and clinical science, and in the Bioengineering Research Grants (BRG) program, which calls for increased research in basic bioengineering areas. Further, tissue engineering has been one of the focus areas for the Institute's on-going small grants program.

In the spring of 2000, NIAMS will sponsor a workshop on the potential utility of stem cells for tissue repair and regeneration. Topics to be covered at the workshop include the design of biopolymer scaffolds to support the growth, proliferation, and differentiation of stem cells and their integration into host tissues. Further, the Institute recently solicited research proposals in high risk areas relevant to our mission, in an effort to broaden the base of inquiry in fundamental biomedical research, as well as biomedical technology.

Item

Duchenne Muscular Dystrophy -- Duchenne muscular dystrophy remains the most common childhood form of muscular dystrophy. The Committee is encouraged that NIAMS, NINDS, and other Institutes are continuing to pursue an understanding of this progressive, heritable disease. In particular, the Committee is aware of the recent Program Announcement issued to encourage new applications on the "Pathogenesis and Therapy of the Muscular Dystrophies." The Committee looks forward to learning about new research opportunities as a result of this effort during the fiscal year 2001 appropriations hearing as well as information on possible breakthroughs from the overall scientific enterprise. (p. 96)

Action taken or to be taken

The NIAMS has a strong interest in promoting research to increase our understanding of the causes of, and potential treatments for, the various muscular dystrophies, including Duchenne Muscular Dystrophy (DMD). DMD, a genetic, muscle-wasting disease, is caused by mutations in the gene for dystrophin. NIAMS-funded scientists recently reported the successful application of a common antibiotic to restore function of the dystrophin protein in mouse models of DMD. This discovery may help to pave the way for future therapies for human patients affected with DMD. Such translation of key research results from animal models to human treatments is a critical component of studies supported by NIAMS.

NIAMS staff are working with colleagues from the National Institute of Neurological Disorders and Stroke, as well as the DMD research and patient advocacy communities, to organize a scientific workshop in the spring of 2000. This session will provide a setting for key DMD investigators to share recent findings, identify research gaps, and recommend future directions for promising studies of this disease.

Item

Ehlers-Danlos Syndrome -- Ehlers-Danlos Syndrome (EDS) is a group of heritable disorders of connective tissue that has been misunderstood and under-diagnosed by the medical community. It is believed that research on EDS would not only assist with development of diagnostic tools and treatment, but would also benefit the understanding of other connective tissue related diseases as well as arthritis, premature membrane rupture, premature births, and wound healing in the elderly. The Committee urges NIAMS and NIH to enhance research on EDS through all available mechanisms, as appropriate, to increase healthcare provider and public education on the disease, to facilitate accurate diagnosis and treatment, and develop standards of care and treatment protocols. (p. 96)

Action taken or to be taken

The Institute has a longstanding interest in and commitment to research on heritable disorders of connective tissue, including Ehlers-Danlos Syndrome (EDS). EDS is characterized by hyperextensibility of the skin, easy bruisability, increased joint mobility, and abnormal tissue fragility. Members of the Coalition for Heritable Disorders of Connective Tissue are currently working with NIAMS staff and the NIH Office of Rare Diseases to organize the Third Workshop on Heritable Disorders of Connective Tissue in the fall of 2000. The upcoming meeting will provide researchers with a forum to share recent advances and identify promising directions for future studies. The meeting, which is expected to take place on the NIH campus, will cover a wide variety of heritable connective tissue disorders, including EDS, and will include both basic and clinical issues. Established investigators from other research areas will be invited to the conference in an effort to expand the circle of scientists studying these diseases.

Item

Facioscapulohumeral Disease -- The Committee is concerned that NIH has not responded to a previous request to develop a plan for enhancing NIH research into facioscapulohumeral (FSH) disease. The Committee urges NIH to convene a research planning conference and establish a comprehensive portfolio into the causes, prevention, and treatment of FSH disease through all available mechanisms, as appropriate. The Director of the Institute is requested to be prepared to testify on the status of this initiative at the fiscal year 2001 appropriations hearing. (p. 97)

Action taken or to be taken

NIAMS supports both extramural and intramural research related to facioscapulohumeral disease (FSHD). In March of 1998, NIAMS, together with the National Institute of Neurological Disorders and Stroke, issued a special solicitation to encourage investigator-initiated research applications to study the pathogenesis and therapy of various forms of muscular dystrophy in children and adults, including FSHD. A number of projects have been funded as a result of this solicitation, including two by NIAMS that have potential implications for FSHD: both support research on developing safe and effective methods to perform gene therapy on skeletal muscle. With respect to intramural research, NIAMS recently recruited and hired a renowned muscle biologist to head our Laboratory of Physical Biology (LPB) and to strengthen our intramural program on muscle diseases. The LPB has a long and accomplished record in the study of biological systems using leading-edge physical approaches, and muscle contraction, regulation, structure, and function are among the key areas of expertise of laboratory members.

NIAMS staff are currently consulting with members of the FSHD extramural community to organize a research planning conference in May of 2000. Researchers from the U.S. and Europe will come together to share their latest findings and identify exciting directions for future studies on this disease.

Item

Fibromyalgia - Fibromyalgia is a clinically diagnosed disorder which is poorly understood and difficult to treat. It is a syndrome of debilitating, chronic, widespread pain, fatigue, sleep disturbance, and other associated disorders. The Committee encourages NIAMS to enhance research to further understand this disease through all available mechanisms, as appropriate, including centers for multiple disciplinary research. (p. 97)

Action taken or to be taken

The Institute recently funded a number of new awards on basic and clinical research in fibromyalgia syndrome (FMS) as a result of a special solicitation issued by NIAMS and a number of other NIH components. These thirteen projects -- from basic research on the mechanisms of chronic pain, to clinical studies of cognitive behavioral therapies, to outcomes research on the health status of young women with FMS -- represent an important opportunity to enhance our understanding of a disease that causes much pain, suffering and lost productivity in many people. These new efforts complement ongoing studies funded by the Institute which are aimed at developing better ways to diagnose, treat, and prevent this disorder. The NIAMS is supporting a broad array of FMS projects in order to identify the most promising research areas.

Item

Ichthyosis -- The Committee is pleased with the NIAMS intramural research program's study of ichthyosis and encourages the Institute to continue this research and enhance research of the genetic components of all of the ichthyoses. (p. 97)

Action taken or to be taken

NIAMS continues to support a strong skin diseases research program both intramurally and extramurally, which includes a focus on the ichthyoses. These disorders often have a genetic basis and are characterized by abnormal scaling of the epidermis which, at times, can result in dramatic deficits in the protective function of the outer layer of skin. Recently, NIAMS-supported researchers studying filaggrin, a major molecule that is chiefly responsible for the scaling associated with one form of ichthyosis, gained new insights into the functioning of that molecule. Further, the Institute's current Ichthyosis Registry will be expanded to incorporate genetic diagnosis data for several of the conditions covered. This expansion demonstrates the steady movement of laboratory research advances into the diagnostic realm, first by inclusion in the registry, and later into diagnostic laboratories themselves. It also sets the stage for the most sophisticated approach to assuring homogeneous cohorts for future clinical trials in the ichthyoses.

In the NIAMS intramural program, scientists have been studying the congenital recessive ichthyoses, including two related disorders, lamellar ichthyosis and congenital ichthyosiform erythroderma. Patients with these disorders, present at birth, have extensive scaling of their skin, often have difficulty sweating and maintaining normal body temperature, and sometimes have restrictions in the use of their limbs due to the taughtness of the skin. Several years ago, investigators in our intramural laboratories discovered that lamellar ichthyosis is caused by mutations in the gene coding for the enzyme transglutaminase-1, called TGM1. This enzyme is important for crosslinking together skin proteins in order to make an efficient barrier against the rigors of the environment. Since that time, scientists have examined many patients with congenital ichthyosis and defined the mutational spectrum in the TGM1 gene.

Item

Heritable Disorders of Connective Tissue -- The Committee acknowledges NIAMS for its support of research on heritable disorders of connective tissue and for its sponsorship of two conferences held on this body of disorders in 1990 and 1995. These disorders are difficult to diagnose, they are incurable connective tissue syndromes, and they affect more than a million Americans. The Committee encourages NIAMS to enhance efforts in this area through all available mechanisms, as appropriate, to understand the molecular and clinical burden of these disorders, to understand the interaction between the molecular genetic defect and the body systems, to be able to predict manifestations of disease before they occur, and to develop effective therapies that will improve the quality of life for people affected by the disorders. (p. 97)

Action taken or to be taken

Heritable connective tissue disorders, while mostly rare, are often highly disabling and are potentially fatal for patients who have them. Further advances in the basic understanding of these diseases will allow more rational and effective therapeutic interventions. In that vein, members of the Coalition for Heritable Disorders of Connective Tissue are currently working with NIAMS staff and the NIH Office of Rare Diseases to organize the Third Workshop on Heritable Disorders of Connective Tissue in the fall of 2000. The upcoming meeting will provide researchers with a forum to share recent advances and identify promising directions for future studies. The meeting, which is expected to take place on the NIH campus, will cover a wide variety of heritable connective tissue disorders and will include both basic and clinical issues. Established investigators from other research areas will be invited to the conference in an effort to expand the circle of scientists studying these diseases.

Item

Lupus -- Lupus is an autoimmune disease that mainly affects women of child-bearing age, can lead to severe organ injury, and the treatment is often as devastating as the disease. African-American women are three times more likely to have lupus than Caucasian women. The Committee is encouraged by recent NIAMS research success in identifying genes and mechanisms which lead to the onset of lupus and urges enhanced research to continue this work. Gaining understanding of the factors associated with the high prevalence of lupus in women and minorities and developing new and innovative treatments while protecting the poor and the uninsured from financial devastation are important priorities for the Committee. (p. 97)

Action taken or to be taken

NIAMS is committed to enhancing basic, clinical, and translational research to improve our understanding of autoimmune diseases such as systemic lupus erythematosus (SLE), which predominantly affect women. The Institute is currently supporting two specialized centers of research in SLE. The first, at the University of Alabama in Birmingham, represents a unique consortium of research organizations and is studying the disease's genetic aspects. The second, at the University of Virginia in Charlottesville, is addressing genetic and immune mechanisms that underlie SLE flare-ups and organ damage. In addition, the Institute continues to fund the Lupus in Minorities (LUMINA) study, an effort designed to examine the relationship of socioeconomic, demographic, cultural, immunogenetic and clinical variables to presentation and early outcome in Hispanic, African American and Caucasian SLE patients. The Institute also continues to support exciting clinical studies on patients with lupus nephritis within the intramural research program.

NIAMS recently hosted two scientific workshops on SLE in collaboration with other NIH components; namely, the National Institute of Neurological Disorders and Stroke and the National Heart, Lung, and Blood Institute. The first meeting focused on central nervous system involvement in the disease and was designed to promote new scientific collaborations between neuroscientists and lupus researchers. The second workshop addressed heart disease and SLE, as premature cardiovascular disease in women with lupus has been underestimated in the past, although it is a major cause of morbidity and mortality. Both of these sessions identified gaps in SLE research and provided recommendations for future initiatives.

With respect to health education for patients with lupus and their care providers, the Institute is pleased to report that the recently published "Lupus: A Patient Care Guide for Nurses and Other Health Professionals" has been in steady demand. This resource guide represents a partnership between Federal health agencies and SLE voluntary organizations and provides a strong model for future information dissemination efforts.

Item

Osteoarthritis -- ...With the number of aged Americans expected to double over the next 20 years, the Committee encourages the Institute to make osteoarthritis research a priority. Recent advances in biomedical research have raised the possibility of regenerating articular cartilage and perhaps preventing OA in weight-bearing joints. The Committee urges NIAMS to enhance research into understanding the spectrum of cellular/biological processes that occur in and around the joint, in addition to joint biomechanics, and joint disease pathology and progression. The Committee also encourages the Institute to strengthen research efforts to restore proper joint function through tissue engineering and regeneration, surgery, drug therapy, gene therapy, and other modalities. (p. 98)

Action taken or to be taken

The NIAMS is pursuing a multipronged approach to the challenge that osteoarthritis (OA), or degenerative joint disease, poses as the U.S. population ages. This approach includes efforts to create a public-private partnership to identify biomarkers and surrogate endpoints that can facilitate clinical trials and enhance drug developement for OA; the recent awarding of a research contract, in collaboration with the National Center for Complementary and Alternative Medicine, to study the efficacy of the dietary supplements glucosamine and chondroitin sulfate for the treatment of knee OA; a scientific conference held in the summer of 1999 focused on how to prevent the onset, progression and disability associated with OA; and the recent publication of a Handout on Health on OA for affected patients, family members, health care providers, and health educators.

In the spring of 1999, the Institute issued a solicitation to stimulate research on the mechanisms of chondroprotection for conditions affecting articular cartilage such as OA, rheumatoid arthritis, and juvenile rheumatoid arthritis. Both basic and applied research projects were encouraged to identify and evaluate chondroprotective agents to prevent cartilage destruction, or to facilitate its repair. In addition, a number of basic research studies are being supported to examine biomechanical signaling mechanisms in cartilage, including a project on cartilage cell and matrix response to joint loading. Further, NIAMS is supporting several tissue engineering investigations that have implications for OA, such as a study that is using animal models to develop joint scaffolds and test surgical approaches for engineered joints. Finally, the Institute is funding scientists who are using novel imaging technologies to identify joint disorders and assess their progression. Refinement of this technology may permit early diagnosis of degenerative joint diseases such as OA and enhance our understanding of the pathological processes within joints.

Item

Osteogenesis Imperfecta -- ...The Committee commends the Institute for holding a conference on OI in collaboration with the OI Foundation and the Children's Brittle Bone Foundation and urges the Institute to carefully review the results of the conference and expand and promote its support of research on OI accordingly. (p. 98)

Action taken or to be taken

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often for little or no apparent cause. In September of 1999, the Institute sponsored a Scientific Workshop on New Research Strategies in Osteogenesis Imperfecta, in cooperation with the Osteogenesis Imperfecta Foundation and the Children's Brittle Bone Foundation. The workshop was designed to reflect a diversity of viewpoints regarding recent reports on the clinical treatment of OI, and to explore areas of basic bone biology that can contribute to improved clinical approaches to this disease. In follow-up to the workshop, the NIAMS plans to launch an initiative to stimulate OI research in areas that have been identified as especially promising.

Item

Osteoporosis Education -- A task force convened by the Office of Public Health and Science on Women's Health, in conjunction with NOF, has determined that a public campaign is needed. The first phase of this campaign was initiated in 1999 and is focused on adolescent girls, ages 9 to 18. A second phase focusing on women age 45 to 64 was also recommended. The Committee encourages NIAMS to assist in carrying out this phase of the public education campaign. (p. 98)

Action taken or to be taken

In September of 1998, the Institute, along with six other agencies of the Department of Health and Human Services, funded a cooperative agreement with a consortium of three voluntary organizations to support the NIH Osteoporosis and Related Bone Diseases~National Resource Center. The Resource Center gathers, develops, and disseminates information to the public and health care community on a variety of bone disorders. As the U.S. population ages, there is an increased need for information about the diagnosis, treatment, and prevention of osteoporosis and related fractures. The Resource Center, which was first established five years ago in response to Congressional interest, is carrying out a national mandate that includes efforts to design, implement, and evaluate information programs and educational materials on bone diseases, addressing information dissemination to all age groups.

Item

Scoliosis - The Committee urges NIAMS, in coordination with other Institutes, to enhance research relevant to scoliosis toward the objectives of identifying genetic markers, developing prenatal and childhood detection testing, and developing genetic therapies to prevent the disease. (p. 98)

Action taken or to be taken

In May of 1997, NIAMS, along with the National Institute of Child Health and Human Development, the American Academy of Orthopaedic Surgeons, and the Orthopaedic Research and Education Foundation, sponsored a multidisciplinary workshop to define the state of the science related to skeletal growth and development, and to identify promising directions for future research. As an outgrowth of that workshop, a solicitation was issued to encourage basic, translational and patient-oriented clinical studies on various aspects of skeletal growth and development, including scoliosis. In the coming fiscal year, the Institute will continue to seek out high-quality research in this area.

Item

Skin Diseases -- The Committee has learned of efforts by the skin diseases researchers and patient advocacy organizations to develop a comprehensive analysis of research opportunities and a research plan for future progress in finding cures and improving care for patients with these diseases. The Committee commends this initiative and encourages NIAMS to publicize and support widespread use of this material. (p. 98)

Action taken or to be taken

NIAMS continues to support a strong skin diseases research program both intramurally and extramurally. Recent scientific insights are laying the groundwork for new and improved therapies for a variety of skin diseases, many of which have a genetic basis and affect children from birth throughout their lives.

A number of initiatives are underway to enhance our understanding of skin conditions, including a recent solicitation for core centers in skin diseases research. Support for such centers provides resources for a number of established investigators to adopt multidisciplinary approaches to common research problems in skin diseases, producing greater productivity than is possible through individual projects. Additionally, NIAMS is planning a meeting in the spring of 2000 that will focus on the current state of knowledge and scientific challenges related to the use of keratinocytes and other skin cells for gene therapy approaches to skin and systemic diseases. The goal of this workshop is to bring together skin researchers to discuss the barriers to progress in human gene therapy and explore alternative approaches. The meeting will generate recommendations for future research directions and will guide program initiatives in this area.

The Institute is in steady communication with the skin diseases scientific and patient advocacy communities and fully supports their efforts to promote a comprehensive research agenda for these disorders. In fact, several skin diseases representatives -- as well as members of the arthritis and musculoskeletal research and patient communities -- recently took part in the development of a long-range scientific plan for the NIAMS.

Congressional Justifications

FY 2000 Senate Appropriations Committee Report Language (S. Rpt. 106-166)

Item

Lupus -- ... Gaining an understanding of the factors associated with the high prevalence of lupus in women and minorities and the development of new and innovative treatments should be a high priority. The Committee urges NIAMS to explore all available scientific opportunities that presently exist in lupus research and treatment. (p. 148)

Action taken or to be taken

NIAMS is committed to enhancing basic, clinical, and translational research to improve our understanding of autoimmune diseases such as systemic lupus erythematosus (SLE), which predominantly affect women. The Institute is currently supporting two specialized centers of research in SLE. The first, at the University of Alabama in Birmingham, represents a unique consortium of research organizations and is studying the disease's genetic aspects. The second, at the University of Virginia in Charlottesville, is addressing genetic and immune mechanisms that underlie SLE flare-ups and organ damage. In addition, the Institute continues to fund the Lupus in Minorities (LUMINA) study, an effort designed to examine the relationship of socioeconomic, demographic, cultural, immunogenetic and clinical variables to presentation and early outcome in Hispanic, African American and Caucasian SLE patients. The Institute also continues to support exciting clinical studies on patients with lupus nephritis within the intramural research program.

NIAMS recently hosted two scientific workshops on SLE in collaboration with other NIH components; namely, the National Institute of Neurological Disorders and Stroke and the National Heart, Lung, and Blood Institute. The first meeting focused on central nervous system involvement in the disease and was designed to promote new scientific collaborations between neuroscientists and lupus researchers. The second workshop addressed heart disease and SLE, as premature cardiovascular disease in women with lupus has been underestimated in the past, although it is a major cause of morbidity and mortality. Both of these sessions identified gaps in SLE research and provided recommendations for future initiatives.

With respect to health education for patients with lupus and their care providers, the Institute is pleased to report that the recently published "Lupus: A Patient Care Guide for Nurses and Other Health Professionals" has been in steady demand. This resource guide represents a partnership between Federal health agencies and SLE voluntary organizations and provides a strong model for future information dissemination efforts.

Item

Osteoarthritis -- Early diagnosis of a disease is important to osteoarthritis, which can completely destroy the joints of the hips and knees and affects over 20 million Americans, most often the elderly. With the aging of the population expected to double by the year 2020, a significant investment must be made now to reduce the burden of OA later. If not, the dynamics of this condition in the aging population alone will generate an avalanche of costs, disability and suffering to the American people in the future. The Committee, therefore, encourages the Institute to assign OA research a high priority. (p. 149)

Action taken or to be taken

The NIAMS is pursuing a multipronged approach to the challenge that osteoarthritis (OA), or degenerative joint disease, poses as the U.S. population ages. This approach includes efforts to create a public-private partnership to identify biomarkers and surrogate endpoints that can facilitate clinical trials and enhance drug developement for OA; the recent awarding of a research contract, in collaboration with the National Center for Complementary and Alternative Medicine, to study the efficacy of the dietary supplements glucosamine and chondroitin sulfate for the treatment of knee OA; a scientific conference held in the summer of 1999 focused on how to prevent the onset, progression and disability associated with OA; and the recent publication of a Handout on Health on OA for affected patients, family members, health care providers, and health educators.

In the spring of 1999, the Institute issued a solicitation to stimulate research on the mechanisms of chondroprotection for conditions affecting articular cartilage such as OA, rheumatoid arthritis, and juvenile rheumatoid arthritis. Both basic and applied research projects were encouraged to identify and evaluate chondroprotective agents to prevent cartilage destruction, or to facilitate its repair. In addition, a number of basic research studies are being supported to examine biomechanical signaling mechanisms in cartilage, including a project on cartilage cell and matrix response to joint loading. Further, NIAMS is supporting several tissue engineering investigations that have implications for OA, such as a study that is using animal models to develop joint scaffolds and test surgical approaches for engineered joints. Finally, the Institute is funding scientists who are using novel imaging technologies to identify joint disorders and assess their progression. Refinement of this technology may permit early diagnosis of degenerative joint diseases such as OA and enhance our understanding of the pathological processes within joints.

Item

Centers on Connective Tissue Research -- The Committee encourages the Institute to consider supporting peer-reviewed centers based at academic institutions that would focus on connective tissue research as it relates to biomaterials. Such research could focus on designing and developing new methods to use polymers in connective tissue repair, replacement and regeneration. (p. 149)

Action taken or to be taken

NIAMS is an active member of the NIH Bioengineering Consortium, or BECON, and has supported several research projects related to tissue engineering, biomimetics, and medical implant science, including studies on tissue engineering for growing joints. The Institute is also involved in the agency's new Bioengineering Research Partnerships (BRP) initiative, which seeks to support multidisciplinary studies that bring together bioengineering expertise with basic and clinical science, and in the Bioengineering Research Grants (BRG) program, which calls for increased research in basic bioengineering areas. Further, tissue engineering has been one of the focus areas for the Institute's on-going small grants program.

In the spring of 2000, NIAMS will sponsor a workshop on the potential utility of stem cells for tissue repair and regeneration. Topics to be covered at the workshop include the design of biopolymer scaffolds to support the growth, proliferation, and differentiation of stem cells and their integration into host tissues. Further, the Institute recently solicited research proposals in high risk areas relevant to our mission, in an effort to broaden the base of inquiry in fundamental biomedical research, as well as biomedical technology.

Item

Scleroderma -- Scleroderma is a chronic, degenerative disease which causes the overproduction of collagen in the body's connective tissue. It affects between 300,000 and 500,000 Americans and is often life-threatening, yet it remains relatively unknown and under-funded. The Committee urges the Institute to provide additional resources to expand the research in this area and to work collaboratively with private research foundations to coordinate research findings. (p. 149)

Action taken or to be taken

Scleroderma is an autoimmune disorder of the body's connective tissue that occurs more frequently in women than in men, usually between the ages of 45 and 55. The hallmark of the disease is widespread thickening of the skin. Although the cause of the disease is unknown, researchers believe that both environmental and genetic factors may play a role in scleroderma. In a recent study of a form of the disorder known as systemic sclerosis - a condition that involves scarring of tissues in the lungs, heart, kidneys, intestinal tract, muscles and joints - NIAMS-supported scientists identified a chromosomal site associated with scleroderma in Oklahoma Choctaw Native Americans. Although scleroderma affects members of all ethnic groups, the disorder is particularly prevalent among the Choctaw. This finding is significant because it moves scleroderma research a step closer to identifying a susceptibility gene.

On a more basic level, the Institute is also supporting fundamental studies of the molecular pathways of fibrosis. Scientists understand how collagen molecules are produced and assembled, but they do not yet understand precisely how and why more collagen molecules are produced in scleroderma. Recent findings suggest that regardless of the primary cause of scleroderma, key molecules maintain a cycle of increased collagen deposition. The design of chemicals that specifically interfere with this cycle is under way. A new effort the Institute is supporting related to systemic sclerosis is a five-year, multi-center clinical trial that will test the efficacy of oral collagen in the treatment of this disease. Further, the NIAMS is expanding its national registry of patients affected by scleroderma and has recently announced a solicitation for specialized centers of research in scleroderma. Such centers foster a coordinated research effort across basic and clinical investigations.

Item

Osteoporosis -- The Committee urges NIAMS to fund additional specialized Centers for Research for Osteoporosis. The Committee notes that these centers have made significant contributions to the progress of osteoporosis research and patient care and can help in reducing bone fractures and other complications from the disease. (p. 149)

Action taken or to be taken

NIAMS leads the Federal research effort on osteoporosis and related bone diseases, and supports research ranging from very basic studies to clinical and translational research, as well as early intervention and prevention projects. Significant advances in the prevention and treatment of osteoporosis are available today as the direct result of research focused on determining the causes and consequences of bone loss at cellular and tissue levels, assessing risk factors, developing strategies to maintain and even enhance bone density, and exploring the roles of such factors as hormones, calcium, vitamin D, drugs, and exercise on bone mass.

In May of 1999, the Institute funded two new core centers for research on musculoskeletal disorders. The first, at the Hospital for Special Surgery in New York City, is concentrating on studies of skeletal integrity, which encompasses biological, chemical, and mechanical influences on bones. The second core center, at Yale University in New Haven, will focus on basic bone biology and bone diseases. In the past, studies of basic bone biology have led to important insights into how bone is built up and broken down normally in the body, and how this balanced process can go awry. The work at these new core centers will boost the critical mass of talented investigators working on problems of bone growth and disease. In addition, the Institute recently announced a solicitation for specialized centers of research in osteoporosis. Such centers foster a coordinated research effort across basic and clinical investigations.

Item

Behavioral and Social Science Research -- The Committee notes that the portion of the NIAMS research portfolio devoted to behavioral and social sciences research is significantly lower than the NIH average. Therefore, the Committee urges NIAMS to fund promising behavioral [and] social sciences research. Additionally, the Committee urges favorable consideration of research in the area of behavioral and social science factors relating to the adherence to medical recovery regimes, exercise, and weight reduction programs. (p. 149)

Action taken or to be taken

The diseases within the mandate of the NIAMS are among the most chronic and costly affecting our Nation, and the Institute is committed to bettering the quality of life for people affected by these diseases. NIAMS researchers have developed a number of ways to assess health status and the Institute is currently supporting research on innovative approaches to disease prevention through behavior change, such as a project that will compare two health promotion models and provide an understanding of how, and under what conditions, behavior change can occur and be maintained. One of the Institute's priorities is the study of how people adapt to and cope with chronic disease. Recognizing that in chronic disease, the patient is often the principal caregiver, NIAMS will continue to pursue its goal of improving health by conducting and supporting not only high-quality basic and clinical investigations, but also promising research in the area of behavioral and social sciences, including professional and patient education, epidemiology, and health services. For example, the Institute has recently announced a new program to support Multidisciplinary Clinical Research Centers (MCRCs) in arthritis, musculoskeletal disorders and skin diseases. Behavioral and social science research is one of the areas of emphasis for this initiative.

Item

Skin Disease Research -- The Committee has learned of the efforts by the skin disease researchers and patient advocate organizations to develop a comprehensive analysis of research opportunities and a research plan for further progress in finding cures and improving care for patients with these diseases. The Committee applauds this initiative and encourages NIAMS to publicize and support wide-spread use of these materials. (p. 149)

Action taken or to be taken

NIAMS continues to support a strong skin diseases research program both intramurally and extramurally. Recent scientific insights are laying the groundwork for new and improved therapies for a variety of skin diseases, many of which have a genetic basis and affect children from birth throughout their lives.

A number of initiatives are underway to enhance our understanding of skin conditions, including a recent solicitation for core centers in skin diseases research. Support for such centers provides resources for a number of established investigators to adopt multidisciplinary approaches to common research problems in skin diseases, producing greater productivity than is possible through individual projects. Additionally, NIAMS is planning a meeting in the spring of 2000 that will focus on the current state of knowledge and scientific challenges related to the use of keratinocytes and other skin cells for gene therapy approaches to skin and systemic diseases. The goal of this workshop is to bring together skin researchers to discuss the barriers to progress in human gene therapy and explore alternative approaches. The meeting will generate recommendations for future research directions and will guide program initiatives in this area.

The Institute is in steady communication with the skin diseases scientific and patient advocacy communities and fully supports their efforts to promote a comprehensive research agenda for these disorders. In fact, several skin diseases representatives -- as well as members of the arthritis and musculoskeletal research and patient communities -- recently took part in the development of a long-range scientific plan for the NIAMS.

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Fibromyalgia - Fibromyalgia syndrome (FMS) is a clinically diagnosed disorder which is poorly understood and difficult to treat. It is a syndrome of chronic, debilitating, widespread pain, fatigue, sleep disturbance, and other associated disorders. Research in the eight years following the ACR's case definition of FMS and four years since the first NIH awards on FMS has created a solid body of knowledge. The Committee urges the Institute to support two centers for research into FMS. These centers would conduct multi-disciplinary studies which have the potential to add significantly to science's understanding of this complex and disabling disease. (p. 150)

Action taken or to be taken

The Institute recently funded a number of new awards on basic and clinical research in fibromyalgia syndrome (FMS) as a result of a special solicitation issued by NIAMS and a number of other NIH components. These thirteen projects -- from basic research on the mechanisms of chronic pain, to clinical studies of cognitive behavioral therapies, to outcomes research on the health status of young women with FMS -- represent an important opportunity to enhance our understanding of a disease that causes much pain, suffering and lost productivity in many people. These new efforts complement ongoing studies funded by the Institute which are aimed at developing better ways to diagnose, treat, and prevent this disorder. The NIAMS is supporting a broad array of FMS projects in order to identify the most promising research areas.

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Osteoporosis Public Education Campaign -- ... A task force convened by the Office of Public Health Services on Women's Health at the DHHS and NOF has determined that a public education campaign on OS is needed. The first phase of this program was launched in 1999 and is focused on adolescent girls, ages 9 to 18. The task force recommended that in the second phase the campaign should focus on the 45 to 64 age group. This is an important time to evaluate their bone health and that of their immediate family. The Committee strongly urges the Institute to provide the funding and support necessary for the NIH Osteoporosis and Related Bone Diseases~National Resource Center to carry out a comprehensive public education campaign. (p. 150)

Action taken or to be taken

In September of 1998, the Institute, along with six other agencies of the Department of Health and Human Services, funded a cooperative agreement with a consortium of three voluntary organizations to support the NIH Osteoporosis and Related Bone Diseases~National Resource Center. The Resource Center gathers, develops, and disseminates information to the public and health care community on a variety of bone disorders. As the U.S. population ages, there is an increased need for information about the diagnosis, treatment, and prevention of osteoporosis and related fractures. The Resource Center, which was first established five years ago in response to Congressional interest, is carrying out a national mandate that includes efforts to design, implement, and evaluate information programs and educational materials on bone diseases, addressing information dissemination to all age groups.

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Ehlers-Danlos Syndrome -- ... The Committee urges the Institute to conduct specific research on EDS to identify improved diagnostic tools and treatment. Specifically, the Institute is encouraged to create a registry of patients with EDS to help facilitate accurate diagnosis and treatment. (p. 150)

Action taken or to be taken

The Institute has a longstanding interest in and commitment to research on heritable disorders of connective tissue, including Ehlers-Danlos Syndrome (EDS). EDS is characterized by hyperextensibility of the skin, easy bruisability, increased joint mobility, and abnormal tissue fragility. Members of the Coalition for Heritable Disorders of Connective Tissue are currently working with NIAMS staff and the NIH Office of Rare Diseases to organize the Third Workshop on Heritable Disorders of Connective Tissue in the fall of 2000. The upcoming meeting will provide researchers with a forum to share recent advances and identify promising directions for future studies. The meeting, which is expected to take place on the NIH campus, will cover a wide variety of heritable connective tissue disorders, including EDS, and will include both basic and clinical issues. Established investigators from other research areas will be invited to the conference in an effort to expand the circle of scientists studying these diseases.

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Cushing's Syndrome - Cushing's Syndrome is a hormonal disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. Sometimes called "hypercortisolism," it is relatively rare and most commonly affected adults aged 20 to 50. An estimated 10 to 15 of every million people are affected each year. The Committee encourages the Institute to conduct specific research on Cushing's Syndrome, to increase awareness of the disease and improve diagnostic tools and treatment. (p. 150)

Action taken or to be taken

Cushing's syndrome is a hormonal disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. The majority of people who suffer the symptoms of Cushing's syndrome do so because they take glucocorticoid hormones such as prednisone for asthma, rheumatoid arthritis, lupus or other inflammatory diseases. Due to the many and diverse conditions that may cause Cushing's syndrome, and the wide-ranging nature of the complications, several components of the NIH conduct and support research on this syndrome. A rare cause of Cushing's syndrome is endogenous over-production of cortisol due to pituitary or adrenal tumors. NIH-supported scientists are conducting research into the normal and abnormal function of the major endocrine glands and the many hormones of the endocrine system. Improved technologies have led to the identification of certain hormones that play a significant role in the development of Cushing's syndrome. As a result, doctors are much better able to diagnose Cushing's syndrome and distinguish among the many causes of this disorder. Studies are also under way to understand the causes of formation of benign endocrine tumors. In a few pituitary tumors, specific gene defects have been identified and may provide important clues to understanding tumor formation in Cushing's syndrome. There is increasing information that tumor formation is a multi-step process and understanding the basis of Cushing's syndrome will lead to new approaches to therapy.

Within the NIH's intramural program, studies are on-going to identify accurately which patients have Cushing's syndrome, to define the etiology of their disease, and to treat it optimally. A major initiative of the past year has been to determine whether octreotide scintigraphy, a form of imaging, is a useful tool in locating ectopic tumors causing Cushing's syndrome. It was concluded that octreotide scintigraphy is not a significant advance over conventional imaging. Another on-going study concerns the administration of interleukin-6 to patients who have specific endocrine disorders, including Cushing's syndrome. The aim of this research is to ascertain whether interleukin-6 will be of value in diagnostically distinguishing patients who have Cushing's syndrome versus those who have pseudo-Cushing's syndrome. Future efforts will continue to seek optimum ways of diagnosing Cushing's syndrome.

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Duchenne Muscular Dystrophy -- ... The Committee has been pleased to note some modest funding increase in recent years, but much remains to be done to improve the outlook for affected patients of this most lethal genetic childhood disorder. Therefore, the Committee encourages NIAMS, in collaboration with other NIH institutes, to increase public awareness of this disease, increase support for basic and clinical research on DMD, and convene a scientific workshop to explore promising research efforts. (p. 151)

Action taken or to be taken

The NIAMS has a strong interest in promoting research to increase our understanding of the causes of, and potential treatments for, the various muscular dystrophies, including Duchenne Muscular Dystrophy (DMD). DMD, a genetic, muscle-wasting disease, is caused by mutations in the gene for dystrophin. NIAMS-funded scientists recently reported the successful application of a common antibiotic to restore function of the dystrophin protein in mouse models of DMD. This discovery may help to pave the way for future therapies for human patients affected with DMD. Such translation of key research results from animal models to human treatments is a critical component of studies supported by NIAMS.

NIAMS staff are working with colleagues from the National Institute of Neurological Disorders and Stroke, as well as the DMD research and patient advocacy communities, to organize a scientific workshop in the spring of 2000. This session will provide a setting for key DMD investigators to share recent findings, identify research gaps, and recommend future directions for promising studies of this disease.

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Bone Disease -- Over 30 million Americans suffer from some form of bone disease....The Committee encourages the Institute to increase its research on diseases such as osteoporosis, Paget's disease of bone, OI, multiple myeloma and other bone diseases with a special emphasis on the role that proteins such as Cbfa-a and parathyroid hormones play in the growth and development of bone; and on its research and development of selective estrogen receptor modulators (SERMS) which offer promise in the prevention and treatment of osteoporosis and related bone disease. The Committee also encourages the Institute to increase research on non-Caucasian women and all men. Because the major body of knowledge about osteoporosis relates to Caucasian postmenopausal women, little information is available on which to base diagnosis and treatment of other populations. (p. 151)

Action taken or to be taken

The Institute considers research on osteoporosis and related bone diseases such as Paget's disease and osteogenesis imperfecta a high priority. The Institute plans to promote basic, clinical, and translational research through a variety of initiatives in the coming fiscal years, including sponsoring a scientific workshop -- along with a number of other NIH components -- on Selective Estrogen Receptor Modulators (SERMS) in the spring of 2000. This meeting will bring together experts to discuss basic research, as well as clinical applications of SERMS in osteoporosis, cancer, and cardiovascular disease.

Important recent efforts include the funding, along with the National Institute on Aging and the National Cancer Institute, of a major study of osteoporosis in men. The Institute is also supporting research on combination drug therapies for osteoporosis. In addition, the NIAMS and other NIH components are planning a Consensus Development Conference on Osteoporosis Prevention, Diagnosis, and Therapy in the spring of 2000.

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often for little or no apparent cause. In September of 1999, the Institute sponsored a Scientific Workshop on New Research Strategies in Osteogenesis Imperfecta, in cooperation with the Osteogenesis Imperfecta Foundation and the Children's Brittle Bone Foundation. The workshop was designed to reflect a diversity of viewpoints regarding recent reports on the clinical treatment of OI, and to explore areas of basic bone biology that can contribute to improved clinical approaches to this disease. In follow-up to the workshop, the NIAMS plans to launch an initiative to stimulate OI research in areas that have been identified as especially promising.

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Reflex Sympathetic Dystrophy Disorder (RSD) -- The Committee is aware of the debilitating effects of RSD.. Currently, little is known about the cause of this disorder, which leads to frequent occurrences of misdiagnosis, and ultimately, the condition is mistreated or goes untreated. Given that early identification and prompt treatment are the keys to recovery, the Committee urges the Institute to consider enhancing its investigation into the cause of and most effective treatments for this condition. (p. 151)

Action taken or to be taken

The NINDS is the leading supporter of extramural pain research, and in partnership with NIDCR, leads the NIH Pain Research Consortium. The NIH Pain Research Consortium was established in 1997 to encourage information sharing and collaborative research efforts, provide coordination of pain research across all NIH components, and ensure that results of NIH-supported pain research are widely communicated. The NINDS, as well as other NIH institutes, support research on RSD, [now also known as Complex Regional Pain Syndrome type I (CRPS)], and on other chronic pain conditions which now are only poorly understood. As a result of the rapid advances occurring in the understanding of basic mechanisms of chronic pain, the NINDS expects to identify and support increasing opportunities into the causes and treatment for RSD and other chronic pain disorders.