Clinical trial NCT01437345: A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset FSHD
Official title: A Multicenter Collaborative Study on the Clinical Features, Expression Profiling, and Quality of Life of Infantile Onset Facioscapulohumeral Muscular Dystrophy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Facioscapulohumeral Muscular Dystrophy
Lead sponsor: Cooperative International Neuromuscular Research Group
Sponsor class: NETWORK
Collaborators: name: FSH Society, Inc.
name: FSHD Global Research Foundation
name: Muscular Dystrophy Canada
name: aTyr Pharma, Inc.
First posted: 2011-09-20
Enrollment: 53
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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.

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.


Eligibility criteria: 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

Primary outcomes:
measure: All Outcome Measures
timeFrame: Dec 2014
Secondary outcomes:
Other outcomes:
Locations:
city: Sacramento
country: United States
facility: University of California - Davis
state: California
city: Washington, D.C.
country: United States
facility: Children's National Medical Center
state: District of Columbia
city: Minneapolis
country: United States
facility: University of Minnesota
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University
state: Missouri
city: Charlotte
country: United States
facility: Carolinas Medical Center
state: North Carolina
city: Durham
country: United States
facility: Duke Children's Hospital
state: North Carolina
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh of UPMC
state: Pennsylvania
city: Melborne
country: Australia
facility: Royal Children's Hospital
city: Sydney
country: Australia
facility: The Children's Hospital at Westmead
city: Calgary
country: Canada
facility: Alberta Children's Hospital
state: Alberta
city: Gothenburg
country: Sweden
facility: Queen Silvia Children's Hospital
city: Newcastle upon Tyne
country: United Kingdom
facility: Newcastle University
Study officials:
affiliation: Alberta Children's Hospital
name: Jean K Mah, MD, MS
role: PRINCIPAL_INVESTIGATOR
References: