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

NCT01437345 | Completed DMC

• 1 other identifier: ACH0311
• Study Type: observational
• Target: 53
• Locations: 5 countries
• Sites: 12

Brief 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.

Conditions

Facioscapulohumeral Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• All Outcome Measures

  1. 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. 2. 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). 3. 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. 4. To evaluate potential genetic modifiers of clinical phenotypes and disease progression in infantile FSHD.

  Dec 2014

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with infantile onset (diagnosed at birth until 10 years of age) and genetically confirmed FSHD will be recruited. This will include children and youth (less than 18 years old) with FSHD who are currently followed in pediatric neuromuscular centers, as well as adults (18 years or older) with FSHD who are identified as having infantile onset of disease by chart review, clinical exam, and genetic confirmation.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Cooperative International Neuromuscular Research Group: lead
• FSH Society, Inc.: collaborator
• FSHD Global Research Foundation: collaborator
• Muscular Dystrophy Canada: collaborator
• aTyr Pharma, Inc.: collaborator

Study Sites (12)

University of California - Davis

Sacramento, California, 95817, United States

Location

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55454, United States

Location

Washington University

St Louis, Missouri, 63110, United States

Location

Carolinas Medical Center

Charlotte, North Carolina, 28207, United States

Location

Duke Children's Hospital

Durham, North Carolina, 27710, United States

Location

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15213, United States

Location

Royal Children's Hospital

Melborne, 3052, Australia

Location

The Children's Hospital at Westmead

Sydney, Australia

Location

Alberta Children's Hospital

Calgary, Alberta, Canada

Location

Queen Silvia Children's Hospital

Gothenburg, 416 85, Sweden

Location

Newcastle University

Newcastle upon Tyne, NE1 3BZ, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for DNA and RNA analysis are optional.

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

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

Study Officials

• Jean K Mah, MD, MS

  Alberta Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 19, 2011
• First Posted: September 20, 2011
• Study Start: July 1, 2012
• Primary Completion: August 1, 2017
• Study Completion: August 1, 2017
• Last Updated: October 11, 2017

Record last verified: 2017-10

Locations

SE (1); US (7); AU (2); CA (1); GB (1)