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

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2015 by Cooperative International Neuromuscular Research Group
Sponsor:
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier:
NCT01539772
First received: February 22, 2012
Last updated: June 25, 2015
Last verified: June 2015
  Purpose

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.


Condition
Becker Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping

Resource links provided by NLM:


Further study details as provided by Cooperative International Neuromuscular Research Group:

Primary Outcome Measures:
  • Strength and function [ Time Frame: Annual ] [ Designated as safety issue: No ]
  • Quality of life [ Time Frame: Annual ] [ Designated as safety issue: No ]

    These questionnaires include:

    • Pediatric Quality of Life Inventory (PedsQL)
    • Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)

  • Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests [ Time Frame: Annual ] [ Designated as safety issue: No ]

Estimated Enrollment: 80
Study Start Date: April 2012
Estimated Study Completion Date: March 2017
Estimated Primary Completion Date: March 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts
Becker

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

.


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

Ages Eligible for Study:   4 Years and older
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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

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

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01539772

Contacts
Contact: Lauren P Hache, MS, CGC 412-224-2030 lhache@childrensnational.org
Contact: Andrea Smith, MS, CGC 412-383-7207 smithal7@upmc.edu

  Show 20 Study Locations
Sponsors and Collaborators
Cooperative International Neuromuscular Research Group
Investigators
Study Chair: Paula R Clemens, MD University of Pittsburgh
  More Information

No publications provided

Responsible Party: Cooperative International Neuromuscular Research Group
ClinicalTrials.gov Identifier: NCT01539772     History of Changes
Other Study ID Numbers: PITT0112
Study First Received: February 22, 2012
Last Updated: June 25, 2015
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on July 27, 2015