Identifying genetic factors in adults with Neurofibromatosis Type 1
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults with Neurofibromatosis Type 1
This study is trying to find out if certain genes are linked to the skin tumors in adults with Neurofibromatosis Type 1 to help improve treatment options for them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 40 Years and up |
| Sex | All |
| Sponsor | Stanford University Academic / other |
| Locations | 2 sites (Baltimore, California and 1 other locations) |
| Trial ID | NCT04941027 on ClinicalTrials.gov |
What this trial studies
This study aims to create a genetic biobank to explore genetic variants linked to the diverse clinical features of Neurofibromatosis Type 1 (NF1). By conducting a genome-wide association study (GWAS), researchers will identify common genetic risk factors associated with the development of cutaneous neurofibromas. The findings could enhance the understanding of NF1 pathogenesis and lead to more personalized management strategies for patients. Participants will be adults aged 40 and older with a confirmed diagnosis of NF1 and at least one neurofibroma.
Who should consider this trial
Good fit: Ideal candidates are adults aged 40 or older diagnosed with Neurofibromatosis Type 1 and having at least one neurofibroma.
Not a fit: Patients under 40 years old or those without a diagnosis of Neurofibromatosis Type 1 will not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved personalized treatment options for patients with Neurofibromatosis Type 1.
How similar studies have performed: Previous studies have shown promise in identifying genetic factors related to NF1, suggesting that this approach could yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Age 40 or older. * NF type 1 diagnosed using clinical criteria. * At least one neurofibroma present at time of enrollment. * Patient able to read and understand consent form (or equivalent translation) and able to give consent. * Patient able and willing to complete all study procedures.
Where this trial is running
Baltimore, California and 1 other locations
- Johns Hopkins University School of Medicine — Baltimore, California, United States (Recruiting)
- Stanford University — Redwood City, California, United States (Recruiting)
Study contacts
- Principal investigator: Kavita Sarin, MD PhD — Stanford University
- Study coordinator: Mahrukh Abdullah, BA
- Email: mahrukh@stanford.edu
- Phone: 650-743-8949
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.