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Biomarker for Duchenne Muscular Dystrophy (BioDuchenne)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02994030
Recruitment Status : Recruiting
First Posted : December 15, 2016
Last Update Posted : April 9, 2021
Information provided by (Responsible Party):

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.

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

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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : December 2023
Estimated Study Completion Date : December 2023

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

Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. 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.

Biospecimen Retention:   Samples With DNA
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Months to 50 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Participants with Duchenne Muscular Dystrophy (DMD)


  • 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


  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02994030

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Contact: Sana Iftikhar +49 381 80113 544

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University Hospital Center Mother Teresa Recruiting
Tirana, Albania, 10001
Contact: Paskal Cullufi, MD    +35 5672043840   
Principal Investigator: Paskal Cullufi, MD         
Department of Pediatric,Faculty of Medicine, Alexandria University Children's Hospital Recruiting
Alexandria, Egypt, 21131
Contact: Tarek Elsayed Omar, MD    +20 2035826512   
Principal Investigator: Tarek Elsayed Omar, MD         
Ain Shams University-Medical Genetics Recruiting
Cairo, Egypt, 11566
Contact: Solaf Mohamed El Sayed, MD    +20 (0)1060260052   
Principal Investigator: Solaf Mohamed El Sayed, MD         
Ain Shams University Recruiting
Cairo, Egypt
Contact: Omnia El Rashidy, MD    +20 (0)0224512900   
Principal Investigator: Omnia El Rashidy, MD         
Ain Shams Univirsity Recruiting
Cairo, Egypt
Contact: Hoda Tomoum, MD    +20 (0)0224156526   
Principal Investigator: Hoda Tomoum, MD         
Departmnet of Pediatrics, Tanta University Recruiting
Tanta, Egypt, 31527
Contact: Heba Dawoud, MD    +20 1094623100   
Principal Investigator: Heba Dawoud, MD         
Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University Recruiting
Tbilisi, Georgia, 0177
Contact: Tinatin Tkemaladze, MD    +99 5032917304   
Principal Investigator: Tinatin Tkemaladze, MD         
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, MD    +91 (0)4842851234   
Principal Investigator: Sheela Nampoothiri, MD         
American of science and technology Recruiting
Beirut, Lebanon
Contact: Andre Megarbane, MD    +33 (0)610403851   
Principal Investigator: Andre Megarbane, MD         
Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health Recruiting
Lahore, Pakistan, 54600
Contact: Huma Cheema, MD    +92 3009447550   
Principal Investigator: Huma Cheema, MD         
Emergency Hospital for Children "Louis Turcanu" Recruiting
Timişoara, Romania, 682041
Contact: Adela Chirita, MD    +40 (0)732890217   
Principal Investigator: Adela Chirita, MD         
Sri Lanka
Lady Ridgeway Hospital for Children Recruiting
Colombo 8, Sri Lanka, 300011
Contact: Eresha Jasinge, MD    +94 (0)712793328   
Principal Investigator: Eresha Jasinge, MD         
Sponsors and Collaborators
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Study Chair: Peter Bauer, Prof.Dr Centogene GmbH
Additional Information:
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Responsible Party: CENTOGENE GmbH Rostock Identifier: NCT02994030    
Other Study ID Numbers: BDMD 6-2018
First Posted: December 15, 2016    Key Record Dates
Last Update Posted: April 9, 2021
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by CENTOGENE GmbH Rostock:
Duchenne Disease
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscle Weakness
Muscular Atrophy
Color Vision Defects
Reflex, Abnormal
Pathological Conditions, Anatomical
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Spinal Curvatures
Spinal Diseases
Bone Diseases
Genetic Diseases, X-Linked
Neuromuscular Manifestations
Neurologic Manifestations
Vision Disorders
Sensation Disorders
Eye Diseases
Deficiency Diseases
Nutrition Disorders