Clinical trial NCT02994030: Biomarker for Duchenne Muscular Dystrophy
Official title: Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Increased Lordosis/Scoliosis
Hyporeflexia
Duchenne Muscular Dystrophy
Red-Green Color Blindness
Lordosis
Scoliosis
Muscular Atrophy
Muscular Weakness
Keywords: Duchenne Disease
Biomarker
Lead sponsor: CENTOGENE GmbH Rostock
Sponsor class: INDUSTRY
First posted: 2016-12-15
Enrollment: 103
Sex: ALL
Minimum age (years): 2
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Participants with Duchenne Muscular Dystrophy (DMD)

Brief 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.

Detailed 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.

Eligibility criteria: 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

Primary outcomes:
measure: Identification of DMD biomarker/s
timeFrame: 36 weeks
Secondary outcomes:
measure: Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s
timeFrame: 36 months
Other outcomes:
Locations:
city: Tirana
country: Albania
facility: University Hospital Center Mother Teresa
city: Alexandria
country: Egypt
facility: Department of Pediatric,Faculty of Medicine, Alexandria University Children's Hospital
city: Cairo
country: Egypt
facility: Ain Shams University-Medical Genetics
city: Cairo
country: Egypt
facility: Ain Shams University
city: Cairo
country: Egypt
facility: Ain Shams Univirsity
city: Tanta
country: Egypt
facility: Departmnet of Pediatrics, Tanta University
city: Tbilisi
country: Georgia
facility: Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University
city: Cochin
country: India
facility: Amrita Institute of Medical Sciences & Research Centre
state: Kerala
city: Beirut
country: Lebanon
facility: American of science and technology
city: Lahore
country: Pakistan
facility: Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
city: Timişoara
country: Romania
facility: Emergency Hospital for Children "Louis Turcanu"
city: Colombo 8
country: Sri Lanka
facility: Lady Ridgeway Hospital for Children
Study officials:
affiliation: Centogene GmbH
name: Peter Bauer, Prof.Dr
role: STUDY_CHAIR
References: