A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD

Status:	Completed
Conditions:	Neurology
Therapuetic Areas:	Neurology
Healthy:	No
Age Range:	Any
Updated:	10/13/2017
Start Date:	July 2012
End Date:	August 2017

A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy

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.

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

We found this trial at

sites

Royal Children's Hospital

Melborne, 3051

9882

from 43215

Melborne,