This trial is active, not recruiting.

Condition facioscapulohumeral muscular dystrophy
Sponsor Cooperative International Neuromuscular Research Group
Collaborator FSH Society, Inc.
Start date July 2012
End date August 2018
Trial size 53 participants
Trial identifier NCT01437345, ACH0311


This study is an observational study that aims to advance our knowledge on infantile onset FSHD. The study will include 50 participants of all ages who have presented with symptoms of FSHD between birth and 10 years of age. Study participation will involve a single day of assessments at one of the participating CINRG centers (to include physical exam, cognitive testing, eye exam, hearing test, strength testing and speech evaluations). The procedures may be split over additional days for scheduling purposes.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model cohort
Time perspective cross-sectional

Primary Outcomes

All Outcome Measures
time frame: Dec 2014

Eligibility Criteria

Male or female participants of any age.

Inclusion Criteria: Affected participants must have a clinical diagnosis of FSHD, including the presence of all of the following features based on review of medical records and/or direct examination: - Onset of symptoms involving the facial or shoulder girdle muscles - Autosomal dominant inheritance in familial cases - Contraction of the D4Z4 repeat array from 1-10 (10 - 38 kb) copies in the 4q35 subtelomeric region, based on established molecular genetic techniques Exclusion Criteria: - Symptomatic cardiomyopathy or severe cardiac arrhythmia which may limit the ability to complete the study protocol - Maternal/mitochondrial mode of inheritance - Evidence of an alternative diagnosis based on muscle biopsy or other available investigations

Additional Information

Official title A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy
Principal investigator Jean K Mah, MD, MS
Trial information was received from ClinicalTrials.gov and was last updated in November 2016.
Information provided to ClinicalTrials.gov by Cooperative International Neuromuscular Research Group.