Clinical Trial: Biomarker for Patients With Duchenne Disease
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Biomarker for Duchenne Disease - An International, Multicenter, Epidemiological Protocol
Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Duchenne disease from plasma
Detailed Summary:
Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide.
It is usually recognized between three and six years of age. DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body. In addition, the calves appear enlarged in most patients. The disease is progressive and most affected individuals require a wheelchair by the teenage years. Serious life-threatening complications may ultimately develop including disease of the heart muscle (cardiomyopathy) and breathing (respiratory) difficulties.
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity. Therefore it is the goal of the study to identify and validate a new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
Sponsor: University of Rostock
Current Primary Outcome: To proof the correct Duchenne diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Duchenne disease will be done. [ Time Frame: 36 months ]
Original Primary Outcome: Same as current
Current Secondary Outcome: Number of correct identified patients with Duchenne disease [ Time Frame: 36 months ]
Original Secondary Outcome: Same as current
Information By: University of Rostock
Dates:
Date Received: November 22, 2016
Date Started: December 2016
Date Completion: December 2019
Last Updated: December 13, 2016
Last Verified: December 2016
