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Biomarker for Duchenne Muscular Dystrophy (BioDuchenne)

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ClinicalTrials.gov Identifier: NCT02994030
Recruitment Status : Recruiting
First Posted : December 15, 2016
Last Update Posted : April 9, 2021
Sponsor:
Information provided by (Responsible Party):
CENTOGENE GmbH Rostock

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


Group/Cohort
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

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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)
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

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 ClinicalTrials.gov identifier (NCT number): NCT02994030


Contacts
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Contact: Sana Iftikhar +49 381 80113 544 sana.iftikhar@centogene.com

Locations
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Albania
University Hospital Center Mother Teresa Recruiting
Tirana, Albania, 10001
Contact: Paskal Cullufi, MD    +35 5672043840    paskalcullufi@gmail.com   
Principal Investigator: Paskal Cullufi, MD         
Egypt
Department of Pediatric,Faculty of Medicine, Alexandria University Children's Hospital Recruiting
Alexandria, Egypt, 21131
Contact: Tarek Elsayed Omar, MD    +20 2035826512    Tarek.Omar@alexmed.edu.eg   
Principal Investigator: Tarek Elsayed Omar, MD         
Ain Shams University-Medical Genetics Recruiting
Cairo, Egypt, 11566
Contact: Solaf Mohamed El Sayed, MD    +20 (0)1060260052    elsayed683@yahoo.com   
Principal Investigator: Solaf Mohamed El Sayed, MD         
Ain Shams University Recruiting
Cairo, Egypt
Contact: Omnia El Rashidy, MD    +20 (0)0224512900    omniarashidy@hotmail.com   
Principal Investigator: Omnia El Rashidy, MD         
Ain Shams Univirsity Recruiting
Cairo, Egypt
Contact: Hoda Tomoum, MD    +20 (0)0224156526    hodatomoum@gmail.com   
Contact       mennahshata@gmail.com   
Principal Investigator: Hoda Tomoum, MD         
Departmnet of Pediatrics, Tanta University Recruiting
Tanta, Egypt, 31527
Contact: Heba Dawoud, MD    +20 1094623100    hebadawoud173@yahoo.com   
Principal Investigator: Heba Dawoud, MD         
Georgia
Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University Recruiting
Tbilisi, Georgia, 0177
Contact: Tinatin Tkemaladze, MD    +99 5032917304    tikatkem@gmail.com   
Principal Investigator: Tinatin Tkemaladze, MD         
India
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, MD    +91 (0)4842851234    sheelanampoothiri@aims.amrita.edu   
Principal Investigator: Sheela Nampoothiri, MD         
Lebanon
American of science and technology Recruiting
Beirut, Lebanon
Contact: Andre Megarbane, MD    +33 (0)610403851    andre.megarbane@yahoo.fr   
Principal Investigator: Andre Megarbane, MD         
Pakistan
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    pedgilahore@gmail.com   
Principal Investigator: Huma Cheema, MD         
Romania
Emergency Hospital for Children "Louis Turcanu" Recruiting
Timişoara, Romania, 682041
Contact: Adela Chirita, MD    +40 (0)732890217    adela.chirita@umft.ro   
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    eresha.jasinge@gmail.com   
Principal Investigator: Eresha Jasinge, MD         
Sponsors and Collaborators
CENTOGENE GmbH Rostock
Investigators
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Study Chair: Peter Bauer, Prof.Dr Centogene GmbH
Additional Information:
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Responsible Party: CENTOGENE GmbH Rostock
ClinicalTrials.gov 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
Biomarker
Additional relevant MeSH terms:
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Muscular Dystrophies
Scoliosis
Muscular Dystrophy, Duchenne
Lordosis
Muscle Weakness
Muscular Atrophy
Blindness
Color Vision Defects
Reflex, Abnormal
Swayback
Atrophy
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
Malnutrition
Nutrition Disorders