Infantile FSHD Study
Research type
Research Study
Full title
A multicenter collaborative study on the clinical features, expression profiling, and quality of life of infantile onset facioscapulohumeral muscular dystrophy
IRAS ID
146012
Contact name
Michela Guglieri
Contact email
Sponsor organisation
Cooperative International Neuromuscular Research Group (CINRG)
Clinicaltrials.gov Identifier
Research summary
Facioscapulohumeral dystrophy (FSHD) is the third most common form of muscular dystrophy with an estimated prevelence of 1 in 15,000 to 20,000. It causes progressive atrophy and frequent asymmetrical weakness involving the face, shoulder girdle, upper arm, abdominal lower limb muscles. Most affected individuals develop symptoms during their second or third decade, with 20% eventually becoming wheelchair dependent. Early childhood onset of FSHD may be associated with more severe weakness as well as extra-neuromuscular manifestations such as mental retardation, retinal vasculopathy, and sensorineural hearing loss.
Despite recent advances in the understanding of the molecular genetics of FSHD, the exact mechanism responsible for the disease remains unknown, and presently there is no cure.
50 participants worldwide will take part in this single visit cross-sectional study and the data collected will inform a larger prospective study on the natural history of the disease. The aim is to have 25 early infantile onset patients (<5 years) and 25 with late onset (5 to 10 years) patients with genetically confirmed FSHD in order to compare their clinical phenotypes and health related outcomes. The data collected will inform a larger prospective study on the natural history of the disease.REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
14/NE/0009
Date of REC Opinion
18 Mar 2014
REC opinion
Further Information Favourable Opinion