Clinical trial · Observational
Modifying Genes in Neurofibromatosis 1
Study of the Neurofibromatosis 1 Expression: Identification of the Modifying Genes
- 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)
Thanks to the investigators previous study the investigators demonstrated the influence of modifying genes in the phenotypic expression of neurofibromatosis 1 (Hum Mol Genet. 2009; 18 (15) :2768-78). Indeed, analysis of the intra-and inter-family variability performed using the investigators phenotype/genotype database demonstrated a strong genetic component for most clinical features. The investigators results suggest the involvement of genetic factors, not related to the NF1 gene, the modifiers. The objective of this project is to identify the modifiers involved in the variability of clinical expression of NF1. The investigators will focus in particular variants involved in the development and progression of 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 (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| No intervention | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- NF1GeneModif Cohort
- description
- Adult patients with neurofibromatosis 1
- interventionNames
- Other: No intervention
Primary outcomes (1)
- measure
- Identification of the genetic variants involved in variability of clinical expression of neurofibromatosis 1.
- timeFrame
- 3 years
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * Aged of 18 or more * Patient with neurofibromatosis 1 according the NIH criteria : * Six or more café au lait macules over 15 mm in greatest diameter in postpubertal individuals * Two or more neurofibromas of any type or one plexiform neurofibroma * Freckling in the axillary or inguinal regions (Crowe´s sign) * Optic glioma * Two or more Lisch nodules (iris hamartomas) * A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis * A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria * The criteria are met in an individual if two or more of the features listed are present. Exclusion Criteria: * Children (\< 18 year-old) * One member of the family already included in the study
References
Publications (3)
- BACKGROUNDEaston DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet. 1993 Aug;53(2):305-13. PMID 8328449
- BACKGROUNDGutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997 Jul 2;278(1):51-7. PMID 9207339
- BACKGROUNDSabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; members of the NF France Network. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet. 2009 Aug 1;18(15):2768-78. doi: 10.1093/hmg/ddp212. Epub 2009 May 5. PMID 19417008