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

NCT ID: NCT01753804

Last Updated: 2017-12-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

269 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-09-01

Study Completion Date

2016-10-01

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Duchenne Muscular Dystrophy

Keywords

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DMD Myopathy Natural History Muscular dystrophy Biomarkers Muscle testing

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Observational study

Intervention Type OTHER

There is no medication or device tested in this study. This is an obversational study on the progression of the disease.

Interventions

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Observational study

There is no medication or device tested in this study. This is an obversational study on the progression of the disease.

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

3 Years

Maximum Eligible Age

18 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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BioMarin Pharmaceutical

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Nathalie Goemans, MD

Role: PRINCIPAL_INVESTIGATOR

UZ Leuven, Belgium

Locations

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UC Davis Health System

Sacramento, California, United States

Site Status

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status

Nationwide Children's Hospital

Columbus, Ohio, United States

Site Status

Hospital de Pediatria Prof Dr Juan P Garrahan

Buenos Aires, , Argentina

Site Status

Universitair Ziekenhuis

Ghent, , Belgium

Site Status

Universitair Ziekenhuis Leuven

Leuven, , Belgium

Site Status

Hospital das Clinicas da Faculdade de Medicina da USP

São Paulo, , Brazil

Site Status

CHU Hopital des enfants

Toulouse, , France

Site Status

Universitaetsklinikum Essen

Essen, , Germany

Site Status

Universitaetsklinikum Freiburg

Freiburg im Breisgau, , Germany

Site Status

Azienda Ospedaliera Universitaria Policlinico G. Martino

Messina, , Italy

Site Status

Policlinico Univsersitario Agostino Gemelli

Rome, , Italy

Site Status

Leids Universitair Medisch Centrum

Leiden, , Netherlands

Site Status

UMC St. Radboud

Nijmegen, , Netherlands

Site Status

Drottning Silvias Barn- ochungdomssjukhus

Gothenburg, , Sweden

Site Status

Hacettepe University Medical Faculty

Ankara, , Turkey (Türkiye)

Site Status

Countries

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United States Argentina Belgium Brazil France Germany Italy Netherlands Sweden Turkey (Türkiye)

Related Links

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http://www.biomarin.com

BioMarin website

Other Identifiers

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PRO-DMD-01

Identifier Type: -

Identifier Source: org_study_id