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Study 14 of 37 for search of: | "Neurofibromatoses" |
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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: | NCT00111384 |
This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1). Finding these genes may explain why some people with NF1 have more medical problems than others. The study will also examine medical problems in NF1 that are rarely seen and are not well understood.
Male and female patients with NF1 who have gone through puberty may be eligible for this study, as well as patients of any age who have unique or under-recognized disease features. Affected and unaffected family members, including parents, siblings, and more distant relatives, may also be enrolled. Candidates are screened with a discussion of medical history or review of medical records, or both. Participants undergo the following procedures:
Patients with NF1
Patients with NF1 who have unique or under-recognized disease features
Unaffected family members
Families are asked to give permission for researchers to recontact them for follow-up information, additional blood samples, or follow-up visit.
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Condition |
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Neurofibromatosis Type I |
Study Type: | Observational |
Official Title: | Variation in Gene Expression in Neurofibromatosis Type 1 |
Estimated Enrollment: | 1500 |
Study Start Date: | May 2005 |
We hypothesize that normal germline variation in gene expression accounts, in part, for variation in the clinical severity and phenotype of the monogenic disorder neurofibromatosis type 1 (NF1). The phenotype of NF1 is constituted by a variety of quantifiable features; we term these features "subphenotypes". Our main focus is on sub-phenotypes with published evidence of variation in expression from an inherited component. These include our primary sub-phenotype of spinal neurofibroma burden (quantified by MRI of spinal neurofibromas) and the secondary sub-phenotypes of dermal neurofibroma burden, head circumference, number of Lisch nodules, scoliosis, history of plexiform neurofibromas, and height. Other sub-phenotypes, as collected by a routine history and physical, will also be evaluated.
According to our hypothesis, the severity of a sub-phenotype will correlate with heritable differences in the germline expression of certain genes. As an example, consider a spectrum of individuals affected with the primary sub-phenotype of spinal neurofibroma burden. For most genes, there will be no relationship of expression level to the number of spinal neurofibromas. However, some genes will have a direct (or inverse, or other) correlation of their level of expression and the number of neurofibromas. Such genes would be considered as candidate modifier genes. The secondary sub-phenotypes will also be analyzed in a similar
way. To limit false positives, candidate genes will then be tested for association and linkage (using the transmission/disequilibrium test, TDT, and affected sibling pairs, ASPs) with the appropriate sub-phenotype.
Recruitment will be focused on identifying individuals with a range of severity of the primary sub-phenotype, spinal neurofibroma burden. We will primarily recruit post-pubertal individuals who meet the 1988 NIH criteria for neurofibromatosis type 1 (NIH Consensus Development Conference 1988). We will exclude those with recognized segmental or mosaic NF1. The rate of cutaneous neurofibroma growth and number is known to vary widely; these tumors typically appear in adolescence. For this reason we will ascertain patients after puberty. We expect most individuals to be 18 years or older, but will also accept post-pubertal pediatric patients (and use a hand film to demonstrate bone age). Parents (whether affected or not) are critical when using family-based test of association (like the TDT) and test of linkage and will also be recruited.
To detect linkage, a minimum of 200 ASPs with spinal neurofibromas is needed. Tests of association with the TDT require trios (mother, father, proband) that can be derived from ASP families. However, we will also recruit trios independent of ASP families. Thus, we set a recruitment goal of 1500 individuals (500 affected individuals, plus 1000 parent or additional sibs in about 400 families) to accommodate this requirement.
Ages Eligible for Study: | 2 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
We will recruit post-pubertal male and female individuals who meet the widely accepted 1988 NIH criteria for neurofibromatosis type 1 (NIH Consensus Development Conference 1988).
At the PI's discretion, medical records will be reviewed prior to enrollment to exclude individuals with probable segmental or mosaic NF1.
We may at our discretion occasionally recruit individuals with unique or under-recognized features of NF1.
Practically, we expect that most individuals recruited to the study will be 18 years or older, however, we will include post-pubertal pediatric patients (e.g. generally 16 years and older).
For individuals less than 18 years of age, an AP film of the hand for bone age will be required.
Parents and siblings (especially if affected) will be recruited.
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: | 050152, 05-HG-0152 |
Study First Received: | May 19, 2005 |
Last Updated: | July 18, 2008 |
ClinicalTrials.gov Identifier: | NCT00111384 |
Health Authority: | United States: Federal Government |
Genetic Modifiers Genotype Phenotype Neurofibroma Single Nucleotide Polymorphism (SNP) |
Neurofibromatosis Type 1 Pediatrics and Adults Neurofibroma Neurofibromatosis Type 1 NF1 |
Heredodegenerative Disorders, Nervous System Neoplastic Syndromes, Hereditary Neuromuscular Diseases Genetic Diseases, Inborn Neurofibroma Peripheral Nervous System Diseases |
Neurofibromatoses Neurodegenerative Diseases Neurofibromatosis type 1 Nerve Sheath Neoplasms Neurofibromatosis 1 Neurocutaneous Syndromes |
Neoplasms Neoplasms by Histologic Type Nervous System Diseases Neoplasms, Nerve Tissue |