Clinical trial · Observational
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
NCT04941027CI-TRIAL-00098225completedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Neurofibromatosis 1 | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
No intervention recorded.
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Determination of genetic variants associated with clinical presentations of NF1.
- timeFrame
- Day 1
- description
- GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 40 Years
Show eligibility criteria text
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.
References
Publications (2)
- DERIVEDMarjanovic 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. PMID 41296675
- DERIVEDFertitta 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. PMID 41290043