Biomarker for Duchenne Muscular Dystrophy

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

COMPLETED

Total Enrollment

103 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-08-20

Study Completion Date

2022-03-11

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Increased Lordosis/Scoliosis Hyporeflexia Duchenne Muscular Dystrophy Red-Green Color Blindness Lordosis Scoliosis Muscular Atrophy Muscular Weakness

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Participants with Duchenne Muscular Dystrophy (DMD)

Participants diagnosed with Duchenne Muscular Dystrophy (DMD) aged between 2 months and 50 years

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Informed consent is obtained from the parent/ legal guardian
* The participant is aged between 2 months and 50 years
* The diagnosis of DMD is genetically confirmed by CENTOGENE

Exclusion Criteria

* Informed consent is not obtained from the parent/ legal guardian.
* The participant is younger than 2 months or older than 50 years
* The diagnosis of DMD is not genetically confirmed by CENTOGENE

Minimum Eligible Age

2 Months

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No