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

This study is currently recruiting participants.
Verified November 2013 by Prosensa Therapeutics
Sponsor:
Information provided by (Responsible Party):
Prosensa Therapeutics
ClinicalTrials.gov Identifier:
NCT01753804
First received: December 13, 2012
Last updated: November 15, 2013
Last verified: November 2013
  Purpose

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 Intervention
Duchenne Muscular Dystrophy
Other: Observational study

Study Type: Observational
Study Design: 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.

Resource links provided by NLM:


Further study details as provided by Prosensa Therapeutics:

Primary Outcome Measures:
  • 6 minute walk distance [ Time Frame: Change from visit 1 walking distance ] [ Designated as safety issue: No ]
    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).


Estimated Enrollment: 250
Study Start Date: September 2012
Estimated Study Completion Date: December 2017
Estimated Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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.

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

Ages Eligible for Study:   3 Years to 18 Years
Genders 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

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01753804

Contacts
Contact: Patient Info Prosensa patientinfo@prosensa.nl

Locations
United States, California
UC Davis Health System Recruiting
Sacramento, California, United States, 95817
Contact: Erica Goude    916-734-0968    erica.goude@ucdmc.ucdavis.edu   
Principal Investigator: Erik Henricson, MPH         
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Sarah Jacobson, MS    513-803-9036    sarah.jacobson@cchmc.org   
Principal Investigator: Brenda Wong, MD         
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Susan Gailey    614-355-2897    susan.gailey@nationwidechildrens.org   
Contact: Krista Kunkler    614-722-2238    krista.kunkler@nationwidechildrens.org   
Principal Investigator: Kevin Flanigan, MD         
Argentina
Hospital de Pediatria Prof Dr Juan P Garrahan Not yet recruiting
Buenos Aires, Argentina
Contact: Eliana Cavassa         
Principal Investigator: Soledad Monges, MD         
Sub-Investigator: Fernanda De Castro         
Belgium
Universitair Ziekenhuis Recruiting
Gent, Belgium
Contact: Lien Everaert    +3293321954    Lien.Everaert@uzgent.be   
Principal Investigator: Nicolas DeConinck, MD         
Universitair Ziekenhuis Leuven Recruiting
Leuven, Belgium
Contact: Corine Antonis    +3216343845    corine.antonis@uzleuven.be   
Principal Investigator: Nathalie Goemans, MD         
Brazil
Hospital das Clinicas da Faculdade de Medicina da USP Not yet recruiting
Sao Paulo, Brazil
Contact: Douglas Vivona       dovivona@hotmail.com   
Principal Investigator: Maria Bernadete Dutra Resende, MD         
France
CHU Hopital des enfants Recruiting
Toulouse, France
Contact: Francoise Auriol       auriol.f@chu-toulouse.fr   
Principal Investigator: Claude Cances, MD         
Germany
Universitaetsklinikum Essen Recruiting
Essen, Germany
Contact: Eleni Giagkou       eleni.giagkou@uk-essen.de   
Principal Investigator: Ulrike Schara, MD         
Universitaetsklinikum Freiburg Recruiting
Freiburg, Germany
Contact: Ursula Wein    +4976127044740    ursula.wein@uniklinik-freiburg.de   
Principal Investigator: Jan-Bernd Kirschner, MD         
Sub-Investigator: Petra Boettler, MD         
Italy
Azienda Ospedaliera Universitaria Policlinico G. Martino Recruiting
Messina, Italy
Contact: Sonia Messina, MD    +390902217178    smessina@unime.it   
Principal Investigator: Giuseppe Vita, MD         
Policlinico Univsersitario Agostino Gemelli Recruiting
Rome, Italy
Contact: Marika Pane       marika.pane@rm.unicatt.it   
Principal Investigator: Eugenio Mercuri, MD         
Netherlands
Leids Universitair Medisch Centrum Recruiting
Leiden, Netherlands
Contact: Martha Mosselman       M.H.Mosselman-van_Joolingen@lumc.nl   
Contact: Zaida Koeks       z.koeks@lumc.nl   
Principal Investigator: Erik Niks, MD         
UMC St. Radboud Recruiting
Nijmegen, Netherlands
Contact: Corrie Erasmus       c.erasmus@neuro.umcn.nl   
Principal Investigator: Lilian Sie, MD         
Sweden
Drottning Silvias Barn- ochungdomssjukhus Recruiting
Goteborg, Sweden
Contact: Ulrika Sterky    +46 31 3438207    ulrika.sterky@vgregion.se   
Principal Investigator: Mar Tulinius, MD         
Turkey
Hacettepe University Medical Faculty Recruiting
Ankara, Turkey
Contact: Ayse Karaduman       aykaradu@hacettepe.edu.tr   
Principal Investigator: Haluk Topaloglu, MD         
Sponsors and Collaborators
Prosensa Therapeutics
Investigators
Principal Investigator: Nathalie Goemans, MD UZ Leuven, Belgium
  More Information

Additional Information:
No publications provided

Responsible Party: Prosensa Therapeutics
ClinicalTrials.gov Identifier: NCT01753804     History of Changes
Other Study ID Numbers: PRO-DMD-01
Study First Received: December 13, 2012
Last Updated: November 15, 2013
Health Authority: Belgium: Ethics Committee

Keywords provided by Prosensa Therapeutics:
DMD
Myopathy
Natural History
Muscular dystrophy
Biomarkers
Muscle testing

Additional relevant MeSH terms:
Muscular Dystrophy, Duchenne
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on April 17, 2014