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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2015 by Cooperative International Neuromuscular Research Group
Information provided by (Responsible Party):
Cooperative International Neuromuscular Research Group Identifier:
First received: February 22, 2012
Last updated: September 14, 2015
Last verified: September 2015
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.

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)

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.

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.

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 identifier: NCT01539772

Contact: Lauren P Morgenroth, MS, CGC 412-224-2030
Contact: Andrea Smith, MS, CGC 412-383-7207

United States, California
University of California Davis Recruiting
Sacramento, California, United States
Contact: Candace Aguilar    916-734-8898   
Principal Investigator: Craig McDonald, MD         
United States, District of Columbia
Children's National Health System Recruiting
Washington, District of Columbia, United States
Contact: Allyn Toles    202-476-4802   
Principal Investigator: Mathula Thangarajh, MD         
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States
Contact: Kaitlyn Faris    352-273-7573   
Principal Investigator: Barry J Byrne, MD, PhD         
United States, Georgia
Children's Healthcare of Atlanta Recruiting
Atlanta, Georgia, United States
Contact: Saadia Khizer    404-785-9893   
Contact: Kristin Harbaugh    404-785-7504   
Principal Investigator: Han Phan, MD         
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States
Contact: Lauren Webb    312-227-4483   
Principal Investigator: Nancy Kuntz, MD         
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States
Contact: Joline Dalton    612-625-7967   
Principal Investigator: Peter Karachunski, MD         
United States, Missouri
Washington University Recruiting
St. Louis, Missouri, United States
Contact: Rebecca Gadeken    314-362-1624   
Contact: Alyssa Sonsoucie   
Principal Investigator: Anne Connolly, MD         
United States, North Carolina
Carolinas Medical Center Recruiting
Charlotte, North Carolina, United States
Contact: Jackie Sykes    704-333-3967   
Principal Investigator: Amy Harper, MD         
Duke Children's Hospital and Health Center Recruiting
Durham, North Carolina, United States
Contact: Karen Cornett    919-684-1143   
Principal Investigator: Edward Smith, MD         
Principal Investigator: Priya Kishnani, MD         
United States, Pennsylvania
Penn State Hershey Medical Center Recruiting
Hershey, Pennsylvania, United States, 17033
Contact: Heidi Runk    717-531-0003   
Contact: Travis Haines    (717) 531-0003 ext 287666   
Principal Investigator: Matthew Wicklund, MD         
University of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States
Contact: Andrea Smith, MS, CGC    412-383-7207   
Principal Investigator: Paula Clemens, MD         
Sub-Investigator: Hoda Abdel-Hamid, MD         
United States, Tennessee
University of Tennessee Recruiting
Memphis, Tennessee, United States
Contact: Cindy Benzel    901-725-8920   
Principal Investigator: Tulio Bertorini, MD         
United States, Texas
University of Texas Southwestern Medical Center Not yet recruiting
Dallas, Texas, United States, 75390
Contact: Mariam Andersen, MA    214-648-6329   
Principal Investigator: Susan Iannacone, MD         
Canada, Alberta
Alberta Children's Hospital Recruiting
Calgary, Alberta, Canada
Contact: Jean Mah, MD   
Contact: Karla Sanchez   
Principal Investigator: Jean Mah, MD         
Schneider Children's Medical Center of Israel Not yet recruiting
Tel-Aviv, Israel
Contact: Tamar Lev    972-3-925-3559   
Contact: Ofir Becker    972546275055   
Principal Investigator: Yoram Nevo, MD         
Centro Clinico Nemo Recruiting
Milan, Italy
Contact: Ksenija Gorni    011-39-0291433731   
Principal Investigator: Ksenija Gorni, MD         
United Kingdom
Institute of Genetic Medicine - Newcastle University Recruiting
Newcastle upon Tyne, United Kingdom
Contact: Becky Davis    01912418649   
Principal Investigator: Michela Guglieri, MD         
Sponsors and Collaborators
Cooperative International Neuromuscular Research Group
Study Chair: Paula R Clemens, MD University of Pittsburgh
  More Information

No publications provided

Responsible Party: Cooperative International Neuromuscular Research Group Identifier: NCT01539772     History of Changes
Other Study ID Numbers: PITT0112
Study First Received: February 22, 2012
Last Updated: September 14, 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 processed this record on November 27, 2015