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

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ClinicalTrials.gov Identifier: NCT01437345
Recruitment Status : Completed
First Posted : September 20, 2011
Last Update Posted : October 11, 2017
Sponsor:
Collaborators:
FSH Society, Inc.
FSHD Global Research Foundation
Muscular Dystrophy Canada
aTyr Pharma, Inc.
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group

September 19, 2011
September 20, 2011
October 11, 2017
July 2012
August 2017   (Final data collection date for primary outcome measure)
All Outcome Measures [ Time Frame: Dec 2014 ]
  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.
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Complete list of historical versions of study NCT01437345 on ClinicalTrials.gov Archive Site
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A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD
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.
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Observational
Observational Model: Cohort
Time Perspective: Cross-Sectional
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Retention:   Samples With DNA
Description:
Blood samples for DNA and RNA analysis are optional.
Non-Probability Sample
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.
Facioscapulohumeral Muscular Dystrophy
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
53
50
August 2017
August 2017   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
Child, Adult, Older Adult
No
Contact information is only displayed when the study is recruiting subjects
Australia,   Canada,   Sweden,   United Kingdom,   United States
Belgium,   India,   Israel,   Italy,   Puerto Rico
 
NCT01437345
ACH0311
Yes
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Cooperative International Neuromuscular Research Group
Cooperative International Neuromuscular Research Group
  • FSH Society, Inc.
  • FSHD Global Research Foundation
  • Muscular Dystrophy Canada
  • aTyr Pharma, Inc.
Principal Investigator: Jean K Mah, MD, MS Alberta Children's Hospital
Cooperative International Neuromuscular Research Group
October 2017