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Modifying Genes in Neurofibromatosis 1

NCT01650142 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 450

Last updated 2014-06-16

No results posted yet for this study

Summary

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

  • Neurofibromatosis 1

Interventions

OTHER

No intervention

No intervention

Sponsors & Collaborators

  • French National Referral Center for Neurofibromatoses

    collaborator UNKNOWN

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Pierre Wolkenstein, MD, PhD · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-05-31
Primary Completion
2015-09-30
Completion
2015-09-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01650142 on ClinicalTrials.gov