Biomarker for Patients With Duchenne Disease | DuchenneXchange

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Biomarker for Patients With Duchenne Disease

key information

study id #: NCT02994030

condition: Muscular Dystrophy, Scoliosis

status: recruiting


Development of a new MS-based biomarker for the early and sensitive diagnosis of Duchenne disease from plasma

mechanism of action: No pharmaceutical intervention


study details

start date: December 2016

estimated completion: November 2019

size / enrollment: 50

study description:
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.

primary outcomes:

  • 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]

secondary outcomes:

  • Number of correct identified patients with Duchenne disease [Time Frame: 36 months]

inclusion criteria:
• Informed consent will be obtained from the patient or the parents before any study related procedures
• Patients of both genders older than 2 months
• The patient has a diagnosis of Duchenne disease or a high-grade suspicion for Duchenne disease
• High-grade suspicion present, if one or more inclusion criteria are valid:
-Positive family anamnesis for Duchenne disease
-Red-green color defect of the Eyes
-Increased Lordosis/Scoliosis
-Calf muscle pseudohypertrophy

exclusion criteria:
• No Informed consent from the patient or the parents before any study related procedures
• Patients of both gender younger than 2 months
• No diagnosis of Duchenne disease or no valid criteria for profound suspicion of Duchenne disease

study contacts

sponsor: University of Rostock

Arndt Rolfs (MD), 49 381 494 ext 9540,;
Susanne Zielke, 49 381 494 ext 4739,

investigators: Arndt Rolfs, MD

locations: Germany