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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.
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 :
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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Observational study | Other | There is no medication or device tested in this study. This is an obversational study on the progression of the disease. |
|
| Measure | Description | Time Frame |
|---|---|---|
| 6 minute walk 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. | Change from visit 1 walking distance |
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Inclusion Criteria:
Exclusion Criteria:
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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
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| Name | Affiliation | Role |
|---|---|---|
| Nathalie Goemans, MD | UZ Leuven, Belgium | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UC Davis Health System | Sacramento | California | 95817 | United States | ||
| Cincinnati Children's Hospital Medical Center |
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| Label | URL |
|---|---|
| BioMarin website | View source |
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Blood sampling at 4 time points (first visit then once a year). Urinalysis sampling at 4 time points (first visit then once a year).
| Cincinnati |
| Ohio |
| 45229 |
| United States |
| Nationwide Children's Hospital | Columbus | Ohio | 43205 | United States |
| Hospital de Pediatria Prof Dr Juan P Garrahan | Buenos Aires | Argentina |
| Universitair Ziekenhuis | Ghent | Belgium |
| Universitair Ziekenhuis Leuven | Leuven | Belgium |
| Hospital das Clinicas da Faculdade de Medicina da USP | São Paulo | Brazil |
| CHU Hopital des enfants | Toulouse | France |
| Universitaetsklinikum Essen | Essen | Germany |
| Universitaetsklinikum Freiburg | Freiburg im Breisgau | 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 | Gothenburg | Sweden |
| Hacettepe University Medical Faculty | Ankara | Turkey (Türkiye) |
| ID | Term |
|---|---|
| D020388 | Muscular Dystrophy, Duchenne |
| D009135 | Muscular Diseases |
| D009136 | Muscular Dystrophies |
| ID | Term |
|---|---|
| D020966 | Muscular Disorders, Atrophic |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D019370 | Observation |
| ID | Term |
|---|---|
| D008722 | Methods |
| D008919 | Investigative Techniques |
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