NCT01650142

Brief 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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
450

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started May 2012

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 1, 2012

Completed
28 days until next milestone

First Submitted

Initial submission to the registry

May 29, 2012

Completed
2 months until next milestone

First Posted

Study publicly available on registry

July 26, 2012

Completed
3.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2015

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2015

Completed
Last Updated

June 16, 2014

Status Verified

June 1, 2014

Enrollment Period

3.3 years

First QC Date

May 29, 2012

Last Update Submit

June 13, 2014

Conditions

Neurofibromatosis 1

Keywords

Neurofibromatosis 1PhenotypeModifiers

Outcome Measures

Primary Outcomes (1)

  • Identification of the genetic variants involved in variability of clinical expression of neurofibromatosis 1.

    3 years

Study Arms (1)

NF1GeneModif Cohort

Adult patients with neurofibromatosis 1

Other: No intervention

Interventions

No interventionOTHER

No intervention

NF1GeneModif Cohort

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Adult patients with neurofibromatosis 1 according to the NIH criteria followed in NF France network, a national network devoted in to neurofibromatosis 1

You may qualify if:

  • 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.

You may not qualify if:

  • Children (\< 18 year-old)
  • One member of the family already included in the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Henri Mondor Hospital

Créteil, 94010, France

Location

Related Publications (3)

  • Easton 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: 8328449BACKGROUND

  • Gutmann 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: 9207339BACKGROUND

  • Sabbagh 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: 19417008BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood for DNA samples

MeSH Terms

Conditions

Neurofibromatosis 1

Condition Hierarchy (Ancestors)

NeurofibromatosesNeurofibromaNerve Sheath NeoplasmsNeoplasms, Nerve TissueNeoplasms by Histologic TypeNeoplasmsNeoplastic Syndromes, HereditaryNeurocutaneous SyndromesNervous System DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesPeripheral Nervous System DiseasesNeuromuscular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Pierre Wolkenstein, MD, PhD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 29, 2012

First Posted

July 26, 2012

Study Start

May 1, 2012

Primary Completion

September 1, 2015

Study Completion

September 1, 2015

Last Updated

June 16, 2014

Record last verified: 2014-06

Locations

FR(1)