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Sponsored by: |
National Human Genome Research Institute (NHGRI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00314119 |
This study will explore the growth of dermal neurofibromas (skin tumors) in patients with neurofibromatosis type 1 (NF1). Investigators will try to learn: 1) how fast (or slow) these benign tumors grow in NF1, 2) how often new tumors appear and 3) what genes are involved in the growth of the tumors.
Men and women between 20 and 50 years of age diagnosed with NF1 and their biological parents are eligible for this study.
Patients with NF1 are evaluated at the NIH Clinical Center with the following tests and procedures:
Patients and their families will also have a genetic counseling session and an opportunity to ask questions about neurofibromatosis type 1.
Patients return to the NIH after 3, 6, 12, 18 and 24 months for follow-up photographs and possibly blood samples.
Biological parents of patients provide a blood sample for genetic testing.
Condition |
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Dermal Neurofibromas Neurofibromatosis Type 1 |
Study Type: | Observational |
Official Title: | Natural History and Biology of Dermal Neurofibromas in Neurofibromatosis Type 1 |
Study Start Date: | April 2006 |
This protocol results from a funded 2005 Bench-to-Bedside Award and explores the genetic basis of disease severity in neurofibromatosis type 1 (NF1) and the evaluation of three methods to measure disease progression of dermal neurofibromas. NF1 is a common multisystem genetic disorder associated with the development of benign and malignant tumors, primarily of the nervous system. NF1 is 100% penetrant and features variable expressivity and essentially no phenotype/genotype correlation. No standard treatment other than surgery exists for most NF1-associated tumors. Many aspects of the natural history of NF1-associated tumors are not fully characterized and require investigation to assess the effects of potential new treatments, in future clinical trials.
The development of medical treatments for NF1-associated tumors is an important goal given their morbidity and the lack of non-surgical treatment options. The ability to predict the ultimate severity of disease would have a significant impact on the management and treatment of individuals with NF1.
Sorafenib (BAY 43-9006) is a novel, orally bioavailable agent that targets downstream effectors in the Ras signaling pathway (a key dysregulated pathway in NF1). It has thus a strong scientific rationale for evaluation in NF1 related tumors. Dermal neurofibromas occur in nearly every individual with NF1, and are a significant cosmetic problem and a major cause of morbidity. This protocol will 1) quantify the growth of dermal neurofibromas in NF1 with 3 different imaging modalities 2) use an innovative gene expression method to identify genetic modifiers of dermal neurofibroma burden, and 3) evaluate dermal neurofibromas and normal skin for the presence of targets of sorafenib. Successful validation of reliable quantitative imaging methods of dermal neurofibroma growth is a logical prerequisite to subsequent clinical trials with medical treatments, which will evaluate the effect of new agents on the growth rate of dermal neurofibromas. Identification of genetic modifiers may permit prediction of ultimate tumor burden. Evaluation of targets of new agents in dermal neurofibromas will allow for more rationale drug development for NF1. Given the paucity of protocols for adults with NF1 and dermal neurofibromas, this study will likely generate great interest among affected individuals and have rapid accrual.
Ages Eligible for Study: | 20 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
-INCLUSION CRITERIA - GROUP A INDIVIDUALS:
Clinical diagnosis of NF1. In order to meet the diagnosis of NF1 individuals must have 2 of the diagnostic criteria listed below:
We may request the medical records of potential enrollees for our review. Ideally, individuals will have been evaluated by a geneticist and a definitive diagnosis made. However given the unique, familial (and often unmistakable features) of NF1 it is likely the diagnosis can be reliably made by a non-geneticist.
INCLUSION CRITERIA - GROUP B INDIVIDUALS:
EXCLUSION CRITERIA - GROUP A INDIVIDUALS
MEDICAL INCLUSIONS:
Known or suspected untreated bleeding diathesis or platelet disorder that would preclude safe and successful dermal neurofibroma and skin biopsy.
Patients prescribed aspirin or other known/suspected agent that interferes with platelet function may also be excluded if they cannot safely discontinue its use a week ahead of the biopsy.
VULNERABLE POPULATIONS EXCLUSIONS
1) Cognitive delay to the extent that conscious sedation is required to obtain the dermal neurofibroma excision and skin biopsy.
OTHER EXCLUSIONS
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Alabama | |
University of Alabama | Recruiting |
Birmingham, Alabama, United States | |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Study ID Numbers: | 060134, 06-HG-0134 |
Study First Received: | April 11, 2006 |
Last Updated: | December 20, 2008 |
ClinicalTrials.gov Identifier: | NCT00314119 History of Changes |
Health Authority: | United States: Federal Government |
Gene Expression Dermal Tumor Imaging Microarray Dermoscopy |
Genetic Modifiers Neurofibromatosis NF1 |
Neurodegenerative Diseases Neurofibromatosis 1 Neoplastic Syndromes, Hereditary Heredodegenerative Disorders, Nervous System Neurofibromatosis Type 1 Neurofibroma Neuromuscular Diseases |
Genetic Diseases, Inborn Peripheral Nervous System Diseases Neurofibromatoses Peripheral Nervous System Neoplasms Nerve Sheath Neoplasms Nervous System Neoplasms Neurocutaneous Syndromes |
Neoplasms by Histologic Type Neoplasms, Nerve Tissue Nervous System Diseases Neurodegenerative Diseases Neurofibromatosis 1 Neoplasms Heredodegenerative Disorders, Nervous System Neoplastic Syndromes, Hereditary Genetic Diseases, Inborn |
Neurofibroma Neuromuscular Diseases Peripheral Nervous System Diseases Neurofibromatoses Peripheral Nervous System Neoplasms Nerve Sheath Neoplasms Nervous System Neoplasms Neurocutaneous Syndromes |