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Sponsored by: |
National Institute of Allergy and Infectious Diseases (NIAID) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00001350 |
The purpose of the protocol is to allow for patients, and relatives of patients, who may have the newly described autoimmune lymphoproliferative syndrome, to be evaluated at the NIH Clinical Center. This evaluation will include blood and relevant tissue studies along with long-term clinical evaluations to define the biology, inheritance,clinical spectrum, and natural history of this syndrome. The aim of the research is to understand mechanisms involved in the development of expanded numbers of what is typically a rare population of immune cells (CD4-8-/TCRalpha/beta+ T cells, otherwise referred to as double negative T cells), and how these relate to the development of expanded numbers of immune cells and autoimmune (self against self) responses in patients with ALPS.
In some cases, we may proivide treatment related to ALPS. These treatments are consistent with standard medical practice.
Participants with ALPS will be invited to visit the NIH once a year or more frequently when clinically indicated for the next few years for clinicians and scientists to follow the course of their disease and to manage its complications. Knowledge gained from these studies provides important insights into the mechanisms of autoimmunity, the thymus gland, and the role that the immune system and genetics plays in ALPS.
Autoimmune lymphoproliferative syndrome is a rare disease that affects both children and adults. Each of these three words helps describe the main features of this condition. The word autoimmune (self-immune) identifies ALPS as a disease of the immune system. The tools used to fight germs turn against our own cells and cause problems. The word lymphoproliferative describes the unusually large numbers of white blood cells (called lymphocytes (stored in the lymph nodes and spleens of people with ALPS. The word syndrome refers to the many common symptoms shared by ALPS patients.
One of the causes of ALPS is defective apoptosis, or said another way, an individual has an abnormality in how well lymphocytes (immune cells) die when they are instructed to do so. It is normal for lymphocytes to disintegrate (e.g., die) when they have done their job. In people with ALPS and in some of their affected relatives, the genetic message for the cells to die is altered: the message is not received and the cells do not die when they should. As a result, people with ALPS develop an enlarged spleen, liver and lymph glands, along with a range of other problems involving white blood cell counts and overactive immune responses (autoimmune disease). Some patients have an increased risk of developing lymphatic cancers (lymphoma).
Provided is a description of eligible study candidates:
Any patient with ALPS, male or female and of any age. As a patient with ALPS, candidates must have:
Additional information regarding ALPS and the research being conducted at the National Institutes of Health is available at the following World Wide Web (e.g., Internet) locations:
http://www.niaid.nih.gov/publications/alps/
http://www.nhgri.nih.gov/DIR/GMBB/ALPS/.
Condition |
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Autoimmune Disease Lymphatic Disease Lymphoproliferative Disorder Canale-Smith Syndrome |
Study Type: | Observational |
Official Title: | Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated With an Expansion of CD4-8-/TCR Alpha/Beta+ T Cells |
Estimated Enrollment: | 800 |
Study Start Date: | December 1992 |
The purpose of the protocol is to allow for patients, and relatives of patients, who may have the newly described Autoimmune Lymphoproliferative Syndrome (ALPS) to be evaluated at the NIH Clinical Center. This evaluation will include blood and relevant tissue studies along with long-term clinical evaluation to define the biology, inheritance, clinical spectrum, and natural history of this syndrome. The aim of the research studies is to elucidate mechanisms underlying heightened polyclonal and autoimmune responses in these patients. Knowledge gained from these studies provides important insights into the mechanisms of autoimmunity, normal thymic and extra thymic T cell differentiation, TCR repertoire selection, and lymphomagenesis. Medically indicated management of ALPS-related autoimmune disease and cytopenias will also be considered and provided, using standard of care treatments.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
A. ALPS Patient Sample
Study size: up to 800 patients (300 ALPS patients, 500 Relatives and normal controls)
Sex Distribution: Male and female
Age range: All ages acceptable
B. To be considered as having ALPS, patients must have greater than or equal to 1 percent TCR alpha/beta+ CD4-8- peripheral blood T cells, and any one of the following:
C. Relatives (any age) of patients and normal controls.
To determine if there is a genetic basis for this syndrome, we may obtain blood for research studies on unaffected relative of these patients. We may also perform some or all of the studies listed in section IV of the protocol on blood samples from normal relatives. We may also obtain tissue specimens from unrelated individuals who do not have this lymphoproliferative syndrome but have undergone medically indicated diagnostic or therapeutic resection of lymphoid tissue. Lymphoid tissue from unrelated individuals will be collected in such a way that the subject cannot be identified directly or indirectly. Lymphoid tissue may include some or all of those listed in section V of the protocol. Up to 500 male and female relatives of ALPS patients or control subjects will be studied.
D. Recruitment Strategies: Patients and families are referred from NIH investigators, immunologists, hematologists, general medical doctors and geneticists who learn of our studies through our scientific presentations and publications; family organizations, such as the Immune Deficiency Foundation; and the internet.
EXCLUSION CRITERIA:
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Study ID Numbers: | 930063, 93-I-0063 |
Study First Received: | November 3, 1999 |
Last Updated: | October 21, 2008 |
ClinicalTrials.gov Identifier: | NCT00001350 |
Health Authority: | United States: Federal Government |
Immunoregulation T Cell Receptor Alpha/Beta Lymphadenopathy Autoimmune Lymphoproliferative Syndrome ALPS |
Lipid Metabolism, Inborn Errors Autoimmune hemolytic anemia Opitz syndrome Metabolic Diseases Autoimmune Diseases Immunoproliferative Disorders Hematologic Diseases Anemia Anemia, Hemolytic Smith-Lemli-Opitz Syndrome Anemia, Hemolytic, Autoimmune |
Autoimmune lymphoproliferative syndrome Lymphatic Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Abnormalities, Multiple Metabolic disorder Lymphoproliferative Disorders Congenital Abnormalities Dyslipidemias Lipid Metabolism Disorders |
Pathologic Processes Disease Immune System Diseases Syndrome Steroid Metabolism, Inborn Errors |