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

NCT ID: NCT01437345

Last Updated: 2017-10-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

53 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-07-31

Study Completion Date

2017-08-31

Brief Summary

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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.

Detailed Description

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Conditions

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Facioscapulohumeral Muscular Dystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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FSH Society, Inc.

INDUSTRY

Sponsor Role collaborator

FSHD Global Research Foundation

OTHER

Sponsor Role collaborator

Muscular Dystrophy Canada

OTHER

Sponsor Role collaborator

aTyr Pharma, Inc.

INDUSTRY

Sponsor Role collaborator

Cooperative International Neuromuscular Research Group

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Jean K Mah, MD, MS

Role: PRINCIPAL_INVESTIGATOR

Alberta Children's Hospital

Locations

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University of California - Davis

Sacramento, California, United States

Site Status

Children's National Medical Center

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

Site Status

University of Minnesota

Minneapolis, Minnesota, United States

Site Status

Washington University

St Louis, Missouri, United States

Site Status

Carolinas Medical Center

Charlotte, North Carolina, United States

Site Status

Duke Children's Hospital

Durham, North Carolina, United States

Site Status

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, United States

Site Status

Royal Children's Hospital

Melborne, , Australia

Site Status

The Children's Hospital at Westmead

Sydney, , Australia

Site Status

Alberta Children's Hospital

Calgary, Alberta, Canada

Site Status

Queen Silvia Children's Hospital

Gothenburg, , Sweden

Site Status

Newcastle University

Newcastle upon Tyne, , United Kingdom

Site Status

Countries

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Belgium India Israel Italy Puerto Rico United States Australia Canada Sweden United Kingdom

Other Identifiers

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ACH0311

Identifier Type: -

Identifier Source: org_study_id