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

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2014 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: November 25, 2014
Last verified: November 2014

February 22, 2012
November 25, 2014
April 2012
March 2017   (final data collection date for primary outcome measure)
  • 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 ]
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Complete list of historical versions of study NCT01539772 on ClinicalTrials.gov Archive Site
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Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
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.

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
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Non-Probability Sample

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

Becker Muscular Dystrophy
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Becker

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

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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
80
March 2017
March 2017   (final data collection date for primary outcome measure)

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

Male
4 Years and older
No
Contact: Lauren P Hache, MS, CGC 412-224-2030 lhache@childrensnational.org
Contact: Andrea Smith, MS, CGC 412-383-7207 smithal7@upmc.edu
United States,   Argentina,   Canada,   United Kingdom
 
NCT01539772
PITT0112
Yes
Cooperative International Neuromuscular Research Group
Cooperative International Neuromuscular Research Group
Not Provided
Study Chair: Paula R Clemens, MD University of Pittsburgh
Cooperative International Neuromuscular Research Group
November 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP