Biomarker for Duchenne Muscular Dystrop… | Clinical Trial

Key information

Conditions

Increased Lordosis/Scoliosis Atrophy Bacterial Infections Bacterial Infections and Mycoses Bone Diseases Central Nervous System Bacterial Infections Central Nervous System Diseases Central Nervous System Infections Color Vision Defects Cone Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Duchenne Muscular Dystrophy Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Genetic Diseases, X-Linked Gram-Negative Bacterial Infections Hyporeflexia Infections Lordosis Muscle Weakness Muscular Atrophy Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Muscular Weakness Musculoskeletal Diseases Nervous System Diseases Neurologic Manifestations Neuromuscular Diseases Neuromuscular Manifestations Neurosyphilis Pathologic Processes Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Red-Green Color Blindness Reflex, Abnormal Scoliosis Sensation Disorders Signs and Symptoms Spinal Cord Diseases Spinal Curvatures Spinal Diseases Spirochaetales Infections Syphilis Tabes Dorsalis Treponemal Infections Vision Disorders

Age range

2 month–50 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Center Mother Teresa, Tirana, Albania

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Identification of DMD biomarker/s

Time frame: 36 weeks

All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

Secondary outcomes

Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s

Time frame: 36 months

Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.

Sponsors and collaborators

Lead sponsor

CENTOGENE GmbH Rostock

Industry

Registry information

Official study title

Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol

Acronym: BioDuchenne

Important dates

Study start: 2018
Primary completion: 2022
Study completion: 2022
First posted: Dec 15, 2016
Registry last updated: Mar 24, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed