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Clinical Trial Summary

International, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.


Clinical Trial Description

Duchenne Muscular Dystrophy (DMD) is a devastating inherited neuromuscular disorder that affects 1 in 3300 live male births (females can be mildly affected carriers). DMD causes progressive weakness and loss of muscle mass, with symptoms usually appearing in early childhood. DMD arises from mutations in the DMD gene that codes for dystrophin. The DMD gene is located on the short arm of chromosome X (locus Xp21) and codes for dystrophin, containing 3685 amino acid residues. 60-65% of DMD mutations are large dele-tions, 10-30% are nonsense and frame-shift mutations, 5-15% are duplications, and 2% are intronic or 5'- and 3'-UTR alterations.Dystrophin aggregates as a homotetramer in the skeletal muscles or associates with actin and Dystrophin-Associated Glycoproteins (DAGs), forming a stable complex that interacts with laminin in the extracellular matrix. Dystrophin is considered a key structural element in the muscle fiber, whose primary function is to stabilize plasma mem-brane, while the DAGs maintain the sarcolemmal stability by mediating the complex interactions of the muscle membrane and extracellular environment. The low levels of dystrophin lead to cellular instability and progressive leakage of intracellular components, explaining the characteristically high levels of creatine phosphokinase (CPK) in the blood of DMD patients. Biomarkers serve as measurable indicators of normal biological or pathological processes. They are typically directly linked to genetic variants in specific genes and can predict, diagnose, monitor, and assess the severity of a disease. It is the goal of this study to identify, validate, and monitor biochemical markers from DMD affected participants. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT02994030
Study type Observational
Source CENTOGENE GmbH Rostock
Contact Sana Iftikhar
Phone +49 381 80113 544
Email [email protected]
Status Recruiting
Phase
Start date August 20, 2018
Completion date December 2023

See also
  Status Clinical Trial Phase
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Terminated NCT04708314 - An Open-Label Study of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy Phase 4
Withdrawn NCT03642145 - A Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD) Phase 3
Completed NCT00159250 - Safety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy Phase 1/Phase 2
Enrolling by invitation NCT03373968 - Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Phase 2/Phase 3
Completed NCT02667483 - Study of DS-5141b in Patients With Duchenne Muscular Dystrophy Phase 1/Phase 2
Terminated NCT01978366 - Open Label Extension Study of HT-100 in Patients With DMD Phase 2