Clinical trial NCT01539772: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
Official title: PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Becker Muscular Dystrophy
Lead sponsor: Cooperative International Neuromuscular Research Group
Sponsor class: NETWORK
First posted: 2012-02-28
Enrollment: 85
Sex: MALE
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: BMD participants over 4 years of age with in-frame deletions in the dystrophin gene.

Brief summary: This is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG). Following a baseline evaluation, participants will have three follow-up visits over a three-year period. The investigators will characterize the Becker muscular dystrophy phenotype, and correlate specific abnormal dystrophin proteins with the range of clinical outcomes.

Detailed description: We will utilize the Cooperative International Neuromuscular Research group (CINRG) network to collect cohorts of Becker muscular dystrophy (BMD) patients with in-frame deletions in the dystrophin gene. We will collect clinical data across multiple body systems and correlate these findings to the high-resolution deletion break-point mapping performed from the tissue samples. We will investigate the observed variability to deepen our understanding of molecular mechanisms relevant to the optimization of exon skipping therapeutic approaches.

Eligibility criteria: Inclusion Criteria:

* Male
* Age 4 or older
* Diagnosis of BMD with an in-frame deletion in the dystrophin gene, where the boundaries of the mutations are confirmed.

Exclusion Criteria:

• Investigator assessment of inability to comply with protocol

Primary outcomes:
measure: Strength and function
timeFrame: Annual
measure: Quality of life
timeFrame: Annual
measure: Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests
timeFrame: Annual
Secondary outcomes:
Other outcomes:
Locations:
city: Sacramento
country: United States
facility: University of California Davis
state: California
city: Washington
country: United States
facility: Children's National Health System
state: District of Columbia
city: Gainesville
country: United States
facility: University of Florida
state: Florida
city: Atlanta
country: United States
facility: Children's Healthcare of Atlanta
state: Georgia
city: Chicago
country: United States
facility: Ann & Robert H. Lurie Children's Hospital of Chicago
state: Illinois
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 and Health Center
state: North Carolina
city: Hershey
country: United States
facility: Penn State Hershey Medical Center
state: Pennsylvania
city: Pittsburgh
country: United States
facility: University of Pittsburgh
state: Pennsylvania
city: Memphis
country: United States
facility: University of Tennessee
state: Tennessee
city: Dallas
country: United States
facility: UT Southwestern Medical Center
state: Texas
city: Calgary
country: Canada
facility: Alberta Children's Hospital
state: Alberta
city: Milan
country: Italy
facility: Centro Clinico Nemo
city: Newcastle upon Tyne
country: United Kingdom
facility: Institute of Genetic Medicine - Newcastle University
Study officials:
affiliation: University of Pittsburgh
name: Paula R Clemens, MD
role: STUDY_CHAIR
References: