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A Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy.

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01753804
Recruitment Status : Terminated
First Posted : December 20, 2012
Last Update Posted : December 8, 2017
Information provided by (Responsible Party):
BioMarin Pharmaceutical

Brief Summary:
To characterize the natural history and progression of Duchenne Muscular Dystrophy (DMD) to help inform the design of future studies, to capture biomarkers of safety and disease progression and to provide comparative data for the development of rare exons for which formal controlled trials are not feasible.

Condition or disease Intervention/treatment
Duchenne Muscular Dystrophy Other: Observational study

Detailed Description:

This is a prospective study. All DMD patients that fulfil the inclusion/exclusion criteria are eligible although the study is weighted towards ambulant subjects aged 3 years or older. There will be 7 study visits and subjects will be in the study for a maximum of 3 years. Visits will occur every 6 months (+/- 1 month).

Up to 250 DMD subjects planned in the following categories :

  • 75 % ambulant subjects aged between 3 and 18 years at study entry
  • 25% non-ambulant subjects with a maximum age of 18 years at study entry

Subjects will be asked to perform muscle testing assessment with a clinical evaluator, such as walking for 6 minutes, climb stairs, breathe in a tube, see how they can move their arms and legs. They will be asked questions about how they feel overall and perform daily activities. These measurements will be assessed every 6 months.

Urine and blood samples will be collected once a year to measure biomarkers that will allow to have a better overview of DMD.

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Study Type : Observational
Actual Enrollment : 269 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Prospective Natural History Study of Progression of Physical Impairment, Activity Limitation and Quality of Life in Duchenne Muscular Dystrophy.
Actual Study Start Date : September 1, 2012
Actual Primary Completion Date : October 1, 2016
Actual Study Completion Date : October 1, 2016

Group/Cohort Intervention/treatment
Study participants
All participants will follow the same protocol, including muscle strength and function testing, and blood and urine collection, for a maximum of 7 visits over 3 years.
Other: Observational study
There is no medication or device tested in this study. This is an obversational study on the progression of the disease.

Primary Outcome Measures :
  1. 6 minute walk distance [ Time Frame: Change from visit 1 walking distance ]
    Participants are asked to walk at their own preferred speed on a fixed distance for 6 minutes. Subjects are warned of the time and that they may stop earlier if they feel unable to continue. Total distance walked within 6 minutes (or until stopping) is recorded.

Biospecimen Retention:   Samples Without DNA
Blood sampling at 4 time points (first visit then once a year). Urinalysis sampling at 4 time points (first visit then once a year).

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   3 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects diagnosed with DMD resulting from a mutation in the DMD gene which is confirmed by a state of the art DNA diagnostic technique covering all DMD gene exons

Inclusion Criteria:

  • Diagnosis of DMD resulting from a mutation in the DMD gene confirmed by a state of the art DNA diagnostic technique covering all DMD gene exons.
  • Age 3 - 18 years
  • Willing and able to comply with protocol requirements
  • Life expectancy of at least 3 years
  • Able to give informed assent and/or consent in writing signed by the subject and/or parent(s)/legal guardian (according to local regulations)

Exclusion Criteria:

  • Current participation in a clinical study with an Investigational Medicinal Product (IMP)
  • Participation within the previous 1 month in a clinical study with an IMP

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01753804

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United States, California
UC Davis Health System
Sacramento, California, United States, 95817
United States, Ohio
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Hospital de Pediatria Prof Dr Juan P Garrahan
Buenos Aires, Argentina
Universitair Ziekenhuis
Gent, Belgium
Universitair Ziekenhuis Leuven
Leuven, Belgium
Hospital das Clinicas da Faculdade de Medicina da USP
Sao Paulo, Brazil
CHU Hopital des enfants
Toulouse, France
Universitaetsklinikum Essen
Essen, Germany
Universitaetsklinikum Freiburg
Freiburg, Germany
Azienda Ospedaliera Universitaria Policlinico G. Martino
Messina, Italy
Policlinico Univsersitario Agostino Gemelli
Rome, Italy
Leids Universitair Medisch Centrum
Leiden, Netherlands
UMC St. Radboud
Nijmegen, Netherlands
Drottning Silvias Barn- ochungdomssjukhus
Goteborg, Sweden
Hacettepe University Medical Faculty
Ankara, Turkey
Sponsors and Collaborators
BioMarin Pharmaceutical
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Principal Investigator: Nathalie Goemans, MD UZ Leuven, Belgium
Additional Information:
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Responsible Party: BioMarin Pharmaceutical Identifier: NCT01753804    
Other Study ID Numbers: PRO-DMD-01
First Posted: December 20, 2012    Key Record Dates
Last Update Posted: December 8, 2017
Last Verified: December 2017
Keywords provided by BioMarin Pharmaceutical:
Natural History
Muscular dystrophy
Muscle testing
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked