Biomarker for Duchenne Muscular Dystrophy (BioDuchenne)

March 23, 2022 updated by: CENTOGENE GmbH Rostock

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

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

103

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Albania
      • Tirana, Albania, 10001
        • University Hospital Center Mother Teresa
  • Egypt
      • Alexandria, Egypt, 21131
        • Department of Pediatric,Faculty of Medicine, Alexandria University Children's Hospital
      • Cairo, Egypt
        • Ain Shams University
      • Cairo, Egypt, 11566
        • Ain Shams University-Medical Genetics
      • Cairo, Egypt
        • Ain Shams Univirsity
      • Tanta, Egypt, 31527
        • Departmnet of Pediatrics, Tanta University
  • Georgia
      • Tbilisi, Georgia, 0177
        • Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University
  • India
    • Kerala
      • Cochin, Kerala, India, 682041
        • Amrita Institute Of Medical Sciences & Research Centre
  • Lebanon
      • Beirut, Lebanon
        • American of science and technology
  • Pakistan
      • Lahore, Pakistan, 54600
        • Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
  • Romania
      • Timişoara, Romania, 682041
        • Emergency Hospital for Children "Louis Turcanu"
  • Sri Lanka
      • Colombo 8, Sri Lanka, 300011
        • Lady Ridgeway Hospital for Children

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 months to 50 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Participants with Duchenne Muscular Dystrophy (DMD)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
36 weeks

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
36 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

CENTOGENE GmbH Rostock

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 20, 2018

Primary Completion (Actual)

March 11, 2022

Study Completion (Actual)

March 11, 2022

Study Registration Dates

First Submitted

November 22, 2016

First Submitted That Met QC Criteria

December 13, 2016

First Posted (Estimate)

December 15, 2016

Study Record Updates

Last Update Posted (Actual)

March 24, 2022

Last Update Submitted That Met QC Criteria

March 23, 2022

Last Verified

March 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • BDMD 6-2018

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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