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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/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
Scientific title
A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy
Secondary ID [1] 0 0
ACH0311
Universal Trial Number (UTN)
Trial acronym
FSHD
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Facioscapulohumeral Muscular Dystrophy 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders
Neurological 0 0 0 0
Other neurological disorders
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
All Outcome Measures
Timepoint [1] 0 0
Dec 2014

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
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
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

Study design
Purpose
Duration
Cross-sectional
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Completed
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/07/2012
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
1/08/2017
Sample size
Target
Accrual to date
Final
53
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Royal Children's Hospital - Melborne
Recruitment hospital [2] 0 0
The Children's Hospital at Westmead - Sydney
Recruitment postcode(s) [1] 0 0
3052 - Melborne
Recruitment postcode(s) [2] 0 0
- Sydney
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
District of Columbia
Country [3] 0 0
United States of America
State/province [3] 0 0
Minnesota
Country [4] 0 0
United States of America
State/province [4] 0 0
Missouri
Country [5] 0 0
United States of America
State/province [5] 0 0
North Carolina
Country [6] 0 0
United States of America
State/province [6] 0 0
Pennsylvania
Country [7] 0 0
Canada
State/province [7] 0 0
Alberta
Country [8] 0 0
Sweden
State/province [8] 0 0
Gothenburg
Country [9] 0 0
United Kingdom
State/province [9] 0 0
Newcastle upon Tyne

Funding & Sponsors
Primary sponsor type
Other
Name
Cooperative International Neuromuscular Research Group
Address
Country
Other collaborator category [1] 0 0
Commercial sector/Industry
Name [1] 0 0
FSH Society, Inc.
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
FSHD Global Research Foundation
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
Muscular Dystrophy Canada
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Commercial sector/Industry
Name [4] 0 0
aTyr Pharma, Inc.
Address [4] 0 0
Country [4] 0 0

Ethics approval
Ethics application status

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.
Trial website
https://clinicaltrials.gov/ct2/show/NCT01437345
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Jean K Mah, MD, MS
Address 0 0
Alberta Children's Hospital
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT01437345