Biomarker for Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy Clinical Trial

— BioDuchenne  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02994030
• Other study ID #: BDMD 6-2018
• Status: Completed
• Start date: August 20, 2018
• Est. completion date: March 11, 2022

Study information

• Verified date: March 2022
• Source: CENTOGENE GmbH Rostock
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 103
• Est. completion date: March 11, 2022
• Est. primary completion date: March 11, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Months to 50 Years

Eligibility

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

Related Conditions & MeSH terms

• Blindness
• Color Vision Defects
• Duchenne Muscular Dystrophy
• Hyporeflexia
• Increased Lordosis/Scoliosis
• Lordosis
• Muscle Weakness
• Muscular Atrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne
• Muscular Weakness
• Red-Green Color Blindness
• Reflex, Abnormal
• Scoliosis

Locations

Country	Name	City	State
Albania	University Hospital Center Mother Teresa	Tirana
Egypt	Department of Pediatric,Faculty of Medicine, Alexandria University Children's Hospital	Alexandria
Egypt	Ain Shams University	Cairo
Egypt	Ain Shams University-Medical Genetics	Cairo
Egypt	Ain Shams Univirsity	Cairo
Egypt	Departmnet of Pediatrics, Tanta University	Tanta
Georgia	Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University	Tbilisi
India	Amrita Institute of Medical Sciences & Research Centre	Cochin	Kerala
Lebanon	American of science and technology	Beirut
Pakistan	Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health	Lahore
Romania	Emergency Hospital for Children "Louis Turcanu"	Timisoara
Sri Lanka	Lady Ridgeway Hospital for Children	Colombo 8

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Countries where clinical trial is conducted

Albania,  Egypt,  Georgia,  India,  Lebanon,  Pakistan,  Romania,  Sri Lanka, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of DMD biomarker/s	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.	36 weeks
Secondary	Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s	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.	36 months

External Links

•   Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.