Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping

June 14, 2018 updated by: Cooperative International Neuromuscular Research Group

PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping

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.

Study Overview

Status

Unknown

Conditions

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.

Study Type

Observational

Enrollment (Actual)

85

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Alberta
      • Calgary, Alberta, Canada
        • Alberta Children's Hospital
  • Italy
      • Milan, Italy
        • Centro Clinico NeMO
  • United Kingdom
      • Newcastle upon Tyne, United Kingdom
        • Institute of Genetic Medicine - Newcastle University
  • United States
    • California
      • Sacramento, California, United States
        • University of California Davis
    • District of Columbia
      • Washington, District of Columbia, United States
        • Children's National Health System
    • Florida
      • Gainesville, Florida, United States
        • University of Florida
    • Georgia
      • Atlanta, Georgia, United States
        • Children's Healthcare of Atlanta
    • Illinois
      • Chicago, Illinois, United States
        • Ann & Robert H. Lurie Children's Hospital of Chicago
    • Minnesota
      • Minneapolis, Minnesota, United States
        • University of Minnesota
    • Missouri
      • Saint Louis, Missouri, United States
        • Washington University
    • North Carolina
      • Charlotte, North Carolina, United States
        • Carolinas Medical Center
      • Durham, North Carolina, United States
        • Duke Children's Hospital and Health Center
    • Pennsylvania
      • Hershey, Pennsylvania, United States, 17033
        • Penn State Hershey Medical Center
      • Pittsburgh, Pennsylvania, United States
        • University of Pittsburgh
    • Tennessee
      • Memphis, Tennessee, United States
        • University of Tennessee
    • Texas
      • Dallas, Texas, United States, 75390-9036
        • UT Southwestern Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

BMD participants over 4 years of age with in-frame deletions in the dystrophin gene.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Becker

BMD participants over 4 years of age with in-frame deletions in the dystrophin gene.

.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Strength and function
Time Frame: Annual
Annual
Quality of life
Time Frame: Annual

These questionnaires include:

  • Pediatric Quality of Life Inventory (PedsQL)
  • Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)
Annual
Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests
Time Frame: Annual
Annual

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Cooperative International Neuromuscular Research Group

Investigators

  • Study Chair: Paula R Clemens, MD, University of Pittsburgh

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2012

Primary Completion (Anticipated)

August 1, 2018

Study Completion (Anticipated)

August 1, 2018

Study Registration Dates

First Submitted

February 22, 2012

First Submitted That Met QC Criteria

February 27, 2012

First Posted (Estimate)

February 28, 2012

Study Record Updates

Last Update Posted (Actual)

June 15, 2018

Last Update Submitted That Met QC Criteria

June 14, 2018

Last Verified

June 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PITT0112

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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