Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2

Muscular Dystrophy, Facioscapulohumeral Clinical Trial

Official title:

Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01970735
• Other study ID #: 13-AOI-01
• Status: Completed
• Phase: N/A
• Start date: October 30, 2013
• Est. completion date: December 16, 2014

Study information

• Verified date: November 2023
• Source: Centre Hospitalier Universitaire de Nice
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

The aim of the study was to compare the severity of illness between groups of patients (Facio-Scapulo-Humeral Dystrophy = FHSD1, FSHD2 and patients both FSHD1 and FSHD2).

Despite advances in research on the subject, answers are still needed on these diseases.

We also aim to determine whether the chromosomal genetic abnormality is involved in other diseases and the frequency of this mutation in the population of patients FSHD.

This study will increase our knowledge of the two forms of FSHD who present a common pathophysiological mechanism and may occur together in the same family with a worsening of the clinical phenotype worsening . In addition, epigenetic differences between FSHD type 1 and type 2 seems to have clinical consequences requiring appropriate management

Recruitment information / eligibility

• Status: Completed
• Enrollment: 103
• Est. completion date: December 16, 2014
• Est. primary completion date: December 16, 2014
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 75 Years

Eligibility

Inclusion Criteria:

• age = 18 years and <75 years

• FSHD patients 1 or 2 with or without genetic confirmation

Exclusion Criteria:

• Patient with all conditions considered by the investigator interfering with the proper conduct of the study.

Related Conditions & MeSH terms

• Muscular Dystrophies
• Muscular Dystrophy, Facioscapulohumeral

Intervention

Biological:
• Blood test

Locations

Country	Name	City	State
France	Hôpital Archet 1	Nice

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Nice

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Muscle damage measure		One time at the inclusion
Primary	Level of muscle damage		One time at the inclusion