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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/study/NCT01437345
Registration number
NCT01437345
Ethics application status
Date submitted
19/09/2011
Date registered
20/09/2011
Date last updated
11/10/2017
Titles & IDs
Public title
A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD
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Scientific title
A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy
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Secondary ID [1]
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ACH0311
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Universal Trial Number (UTN)
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Trial acronym
FSHD
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Facioscapulohumeral Muscular Dystrophy
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Condition category
Condition code
Musculoskeletal
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Other muscular and skeletal disorders
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Neurological
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Other neurological disorders
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Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Intervention/exposure
Study type
Observational
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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All Outcome Measures
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Assessment method [1]
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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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Timepoint [1]
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Dec 2014
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Eligibility
Key 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
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Minimum age
No limit
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Maximum age
No limit
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key 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
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Study design
Purpose
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Duration
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Selection
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Timing
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Statistical methods / analysis
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Recruitment
Recruitment status
Completed
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
1/07/2012
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
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Actual
1/08/2017
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Sample size
Target
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Accrual to date
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Final
53
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Recruitment in Australia
Recruitment state(s)
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Recruitment hospital [1]
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Royal Children's Hospital - Melborne
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Recruitment hospital [2]
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The Children's Hospital at Westmead - Sydney
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Recruitment postcode(s) [1]
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3052 - Melborne
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Recruitment postcode(s) [2]
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- Sydney
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Recruitment outside Australia
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United States of America
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California
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United States of America
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District of Columbia
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Minnesota
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Missouri
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United States of America
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North Carolina
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United States of America
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Pennsylvania
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Canada
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Alberta
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Sweden
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Gothenburg
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United Kingdom
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State/province [9]
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Newcastle upon Tyne
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Funding & Sponsors
Primary sponsor type
Other
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Name
Cooperative International Neuromuscular Research Group
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Address
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Other collaborator category [1]
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Commercial sector/industry
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Name [1]
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FSH Society, Inc.
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Address [1]
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Other collaborator category [2]
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Other
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Name [2]
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FSHD Global Research Foundation
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Address [2]
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Other collaborator category [3]
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Other
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Name [3]
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Muscular Dystrophy Canada
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Address [3]
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Other collaborator category [4]
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Commercial sector/industry
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Name [4]
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aTyr Pharma, Inc.
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Address [4]
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Ethics approval
Ethics application status
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Summary
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.
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Trial website
https://clinicaltrials.gov/study/NCT01437345
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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Jean K Mah, MD, MS
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Address
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Alberta Children's Hospital
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Email
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Contact person for public queries
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Contact person for scientific queries
No information has been provided regarding IPD availability
What supporting documents are/will be available?
No Supporting Document Provided
Results publications and other study-related documents
No documents have been uploaded by study researchers.
Results not provided in
https://clinicaltrials.gov/study/NCT01437345
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