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

November 10, 2023 updated by: Centre Hospitalier Universitaire de Nice

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

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

103

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Nice, France, 06202
        • Hôpital Archet 1

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

14 years to 71 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: FSHD patient
Biological: Blood test

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Muscle damage measure
Time Frame: One time at the inclusion
One time at the inclusion
Level of muscle damage
Time Frame: One time at the inclusion
One time at the inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire de Nice

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 30, 2013

Primary Completion (Actual)

December 16, 2014

Study Completion (Actual)

December 16, 2014

Study Registration Dates

First Submitted

October 23, 2013

First Submitted That Met QC Criteria

October 23, 2013

First Posted (Estimated)

October 28, 2013

Study Record Updates

Last Update Posted (Actual)

November 14, 2023

Last Update Submitted That Met QC Criteria

November 10, 2023

Last Verified

November 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 13-AOI-01

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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