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Clinical Variability in Marfan Syndrome

NCT01707563 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 160

Last updated 2014-11-06

No results posted yet for this study

Summary

Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. An interesting mechanism is that the expression level of the wild type and/or mutated allele may play a role in the determination of variability.

Principal objective: To evaluate in Marfan patients, if FBN1 expression level (non-mutated or mutated allele) modulates the clinical expression of the disease.

Judgment criteria : Correlation allelic expression level-phenotype Perspectives : To search the predictive factors of severity in order to ameliorate precocity of taking care.

Conditions

  • Marfan Syndrome

Interventions

PROCEDURE

skin punch biopsy and molecular biology

OTHER

fibroblast culture and molecular biology

Sponsors & Collaborators

  • Hospices Civils de Lyon

    collaborator OTHER

  • Banque de cellules cochin

    collaborator UNKNOWN

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Chantal Stheneur, PHD, MD · Hôpital Bichat, AP-HP

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
FACTORIAL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2009-01-31
Primary Completion
2011-06-30
Completion
2012-01-31

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 NCT01707563 on ClinicalTrials.gov