A Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy.
- Conditions
- Duchenne Muscular Dystrophy
- Interventions
- Other: Observational study
- Registration Number
- NCT01753804
- Lead Sponsor
- 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.
- 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.
Recruitment & Eligibility
- Status
- TERMINATED
- Sex
- Male
- Target Recruitment
- 269
- 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)
- 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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Study participants Observational study 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.
- Primary Outcome Measures
Name Time Method 6 minute walk distance 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.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (16)
Hospital de Pediatria Prof Dr Juan P Garrahan
🇦🇷Buenos Aires, Argentina
UC Davis Health System
🇺🇸Sacramento, California, United States
Nationwide Children's Hospital
🇺🇸Columbus, Ohio, United States
Universitair Ziekenhuis
🇧🇪Gent, Belgium
Azienda Ospedaliera Universitaria Policlinico G. Martino
🇮🇹Messina, Italy
Hacettepe University Medical Faculty
🇹🇷Ankara, Turkey
Cincinnati Children's Hospital Medical Center
🇺🇸Cincinnati, Ohio, United States
Universitaetsklinikum Freiburg
🇩🇪Freiburg, Germany
CHU Hopital des enfants
🇫🇷Toulouse, France
Universitair Ziekenhuis Leuven
🇧🇪Leuven, Belgium
Hospital das Clinicas da Faculdade de Medicina da USP
🇧🇷Sao Paulo, Brazil
Universitaetsklinikum Essen
🇩🇪Essen, Germany
Policlinico Univsersitario Agostino Gemelli
🇮🇹Rome, Italy
Leids Universitair Medisch Centrum
🇳🇱Leiden, Netherlands
UMC St. Radboud
🇳🇱Nijmegen, Netherlands
Drottning Silvias Barn- ochungdomssjukhus
🇸🇪Goteborg, Sweden