Clinical trial NCT01753804: A Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy.
Official title: A Prospective Natural History Study of Progression of Physical Impairment, Activity Limitation and Quality of Life in Duchenne Muscular Dystrophy.
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Duchenne Muscular Dystrophy
Keywords: DMD
Myopathy
Natural History
Muscular dystrophy
Biomarkers
Muscle testing
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
First posted: 2012-12-20
Enrollment: 269
Sex: MALE
Minimum age (years): 3
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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

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.

Eligibility criteria: 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

Primary outcomes:
measure: 6 minute walk distance
timeFrame: Change from visit 1 walking distance
Secondary outcomes:
Other outcomes:
Locations:
city: Sacramento
country: United States
facility: UC Davis Health System
state: California
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
city: Buenos Aires
country: Argentina
facility: Hospital de Pediatria Prof Dr Juan P Garrahan
city: Gent
country: Belgium
facility: Universitair Ziekenhuis
city: Leuven
country: Belgium
facility: Universitair Ziekenhuis Leuven
city: Sao Paulo
country: Brazil
facility: Hospital das Clinicas da Faculdade de Medicina da USP
city: Toulouse
country: France
facility: CHU Hopital des enfants
city: Essen
country: Germany
facility: Universitaetsklinikum Essen
city: Freiburg
country: Germany
facility: Universitaetsklinikum Freiburg
city: Messina
country: Italy
facility: Azienda Ospedaliera Universitaria Policlinico G. Martino
city: Rome
country: Italy
facility: Policlinico Univsersitario Agostino Gemelli
city: Leiden
country: Netherlands
facility: Leids Universitair Medisch Centrum
city: Nijmegen
country: Netherlands
facility: UMC St. Radboud
city: Goteborg
country: Sweden
facility: Drottning Silvias Barn- ochungdomssjukhus
city: Ankara
country: Turkey
facility: Hacettepe University Medical Faculty
Study officials:
affiliation: UZ Leuven, Belgium
name: Nathalie Goemans, MD
role: PRINCIPAL_INVESTIGATOR
References: