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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

Tracking Information
First Submitted Date November 22, 2016
First Posted Date December 15, 2016
Last Update Posted Date April 9, 2021
Actual Study Start Date August 20, 2018
Estimated Primary Completion Date December 2023   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 14, 2020)
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.
Original Primary Outcome Measures
 (submitted: December 13, 2016)
To proof the correct Duchenne diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Duchenne disease will be done. [ Time Frame: 36 months ]
Change History
Current Secondary Outcome Measures
 (submitted: April 14, 2020)
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.
Original Secondary Outcome Measures
 (submitted: December 13, 2016)
Number of correct identified patients with Duchenne disease [ Time Frame: 36 months ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Biomarker for Duchenne Muscular Dystrophy
Official Title Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol
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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)
Sampling Method Probability Sample
Study Population Participants with Duchenne Muscular Dystrophy (DMD)
Condition
  • Increased Lordosis/Scoliosis
  • Hyporeflexia
  • Duchenne Muscular Dystrophy
  • Red-Green Color Blindness
  • Lordosis
  • Scoliosis
  • Muscular Atrophy
  • Muscular Weakness
Intervention Not Provided
Study Groups/Cohorts Participants with Duchenne Muscular Dystrophy (DMD)
Participants diagnosed with Duchenne Muscular Dystrophy (DMD) aged between 2 months and 50 years
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 22, 2019)
1000
Original Estimated Enrollment
 (submitted: December 13, 2016)
50
Estimated Study Completion Date December 2023
Estimated Primary Completion Date December 2023   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Months to 50 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Sana Iftikhar +49 381 80113 544 sana.iftikhar@centogene.com
Listed Location Countries Albania,   Egypt,   Georgia,   India,   Lebanon,   Pakistan,   Romania,   Sri Lanka
Removed Location Countries Germany,   Lithuania,   United Arab Emirates
 
Administrative Information
NCT Number NCT02994030
Other Study ID Numbers BDMD 6-2018
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party CENTOGENE GmbH Rostock
Study Sponsor CENTOGENE GmbH Rostock
Collaborators Not Provided
Investigators
Study Chair: Peter Bauer, Prof.Dr Centogene GmbH
PRS Account CENTOGENE GmbH Rostock
Verification Date July 2020