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OpenTrials
Completed

NCT Number: NCT01970735

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

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

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Key information

Conditions

Muscular Dystrophy, Facioscapulohumeral Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

18 year–75 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hôpital Archet 1

Nice, 06202, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

blood test

Biological

Primary outcomes

  1. Muscle damage measure

    Time frame: One time at the inclusion

  2. Level of muscle damage

    Time frame: One time at the inclusion

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Nice

Other

Registry information

Important dates

Study start
2013
Primary completion
2014
Study completion
2014
First posted
Oct 28, 2013
Registry last updated
Nov 14, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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