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| ID | Type | Description | Link |
|---|---|---|---|
| MZ-0053000 | Other Identifier | OnCore | |
| SPO: 200898 | Other Grant/Funding Number | Johns Hopkins University: PRIME NTAP |
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| Name | Class |
|---|---|
| Johns Hopkins University | OTHER |
| University of California, San Francisco | OTHER |
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The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.
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| Measure | Description | Time Frame |
|---|---|---|
| Determination of genetic variants associated with clinical presentations of NF1. | GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1. | Day 1 |
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Inclusion Criteria:
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Participants aged 40 or older that have been clinically diagnosed with NF1 and currently have neurofibromas present.
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| Name | Affiliation | Role |
|---|---|---|
| Kavita Sarin, MD PhD | Stanford University | Principal Investigator |
| Jaishri Blakely, MD | Johns Hopkins University | Principal Investigator |
| Carlos Romo, MD | Johns Hopkins University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Johns Hopkins University School of Medicine | Baltimore | California | 21218 | United States | ||
| Stanford University |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41296675 | Derived | Marjanovic M, Mikiver R, Nielsen K, Isaksson K, Claeson M. Contrasting survival outcomes and patient characteristics in 5815 patients with stage II and III melanoma: a nationwide population-based registry study from Sweden. Br J Dermatol. 2026 Mar 19;194(4):648-655. doi: 10.1093/bjd/ljaf478. | |
| 41290043 | Derived |
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Individual participant data will be shared indefinitely with collaborators after data is deidentified.
Data will be available as generated indefinitely.
Data will be shared through secure REDCap database.
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| ID | Term |
|---|---|
| D009456 | Neurofibromatosis 1 |
| ID | Term |
|---|---|
| D017253 | Neurofibromatoses |
| D009455 | Neurofibroma |
| D018317 | Nerve Sheath Neoplasms |
| D009380 | Neoplasms, Nerve Tissue |
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Saliva samples will be collected from patients for genetic sequencing.
| Redwood City |
| California |
| 94063 |
| United States |
| Fertitta L, Sarin KY, Romo CG, Bergqvist C, Blakeley JO, Peiffer B, Tran VT, Armand ML, Moryousef S, Ferkal S, Le Corvoisier P, Ezzedine K, Wolkenstein P. Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D. Br J Dermatol. 2026 Mar 19;194(4):679-688. doi: 10.1093/bjd/ljaf479. |
| D009370 |
| Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D009386 | Neoplastic Syndromes, Hereditary |
| D020752 | Neurocutaneous Syndromes |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |