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

Facioscapulohumeral Muscular Dystrophy Clinical Trial

— FSHD  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01437345
• Other study ID #: ACH0311
• Status: Completed
• Phase: N/A
• First received: September 19, 2011
• Last updated: October 10, 2017
• Start date: July 2012
• Est. completion date: August 2017

Study information

• Verified date: October 2017
• Source: Cooperative International Neuromuscular Research Group
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 53
• Est. completion date: August 2017
• Est. primary completion date: August 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Facioscapulohumeral Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Facioscapulohumeral

Locations

Country	Name	City	State
Australia	Royal Children's Hospital	Melborne
Australia	The Children's Hospital at Westmead	Sydney
Canada	Alberta Children's Hospital	Calgary	Alberta
Sweden	Queen Silvia Children's Hospital	Gothenburg
United Kingdom	Newcastle University	Newcastle upon Tyne
United States	Carolinas Medical Center	Charlotte	North Carolina
United States	Duke Children's Hospital	Durham	North Carolina
United States	University of Minnesota	Minneapolis	Minnesota
United States	Children's Hospital of Pittsburgh of UPMC	Pittsburgh	Pennsylvania
United States	University of California - Davis	Sacramento	California
United States	Washington University	Saint Louis	Missouri
United States	Children's National Medical Center	Washington, D.C.	District of Columbia

Sponsors (5)

Lead Sponsor	Collaborator
Cooperative International Neuromuscular Research Group	aTyr Pharma, Inc., FSH Society, Inc., FSHD Global Research Foundation, Muscular Dystrophy Canada

Countries where clinical trial is conducted

United States,  Australia,  Canada,  Sweden,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	All Outcome Measures	Establish a standardized muscle testing protocol including both manual and quantitative muscle testing as well as function testing for use in children and adults with infantile onset FSHD.; To describe the clinical phenotypes of infantile FSHD; separately in the early infantile group (onset before age 5) and late onset group (onset between 5 and 10 years of age).; To evaluate the impact of physical impairment, secondary health conditions, activity limitations and disability caused by FSHD on health-related quality of life and disability across different age groups; as well as to evaluate the utility of the FSHD clinical severity scale.; To evaluate potential genetic modifiers of clinical phenotypes and disease progression in infantile FSHD.	Dec 2014