NCT02994030

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.

Trial Health

93
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
103

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Aug 2018

Typical duration for all trials

Geographic Reach
8 countries

12 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

November 22, 2016

Completed
23 days until next milestone

First Posted

Study publicly available on registry

December 15, 2016

Completed
1.7 years until next milestone

Study Start

First participant enrolled

August 20, 2018

Completed
3.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 11, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 11, 2022

Completed
Last Updated

March 24, 2022

Status Verified

March 1, 2022

Enrollment Period

3.6 years

First QC Date

November 22, 2016

Last Update Submit

March 23, 2022

Conditions

Increased Lordosis/ScoliosisHyporeflexiaDuchenne Muscular DystrophyRed-Green Color BlindnessLordosisScoliosisMuscular AtrophyMuscular Weakness

Keywords

Duchenne DiseaseBiomarker

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (1)

  • Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s

    36 months

Study Arms (1)

Participants with Duchenne Muscular Dystrophy (DMD)

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

Eligibility Criteria

Age2 Months - 50 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodProbability Sample
Study Population

Participants with Duchenne Muscular Dystrophy (DMD)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (12)

University Hospital Center Mother Teresa

Tirana, 10001, Albania

Location

Department of Pediatric,Faculty of Medicine, Alexandria University Children's Hospital

Alexandria, 21131, Egypt

Location

Ain Shams University-Medical Genetics

Cairo, 11566, Egypt

Location

Ain Shams University

Cairo, Egypt

Location

Ain Shams Univirsity

Cairo, Egypt

Location

Departmnet of Pediatrics, Tanta University

Tanta, 31527, Egypt

Location

Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University

Tbilisi, 0177, Georgia

Location

Amrita Institute of Medical Sciences & Research Centre

Kochi, Kerala, 682041, India

Location

American of science and technology

Beirut, Lebanon

Location

Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health

Lahore, 54600, Pakistan

Location

Emergency Hospital for Children "Louis Turcanu"

Timișoara, 682041, Romania

Location

Lady Ridgeway Hospital for Children

Colombo, 300011, Sri Lanka

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

ScoliosisReflex, AbnormalMuscular Dystrophy, DuchenneColor Vision DefectsLordosisMuscular AtrophyMuscle WeaknessTabes Dorsalis

Condition Hierarchy (Ancestors)

Spinal CurvaturesSpinal DiseasesBone DiseasesMusculoskeletal DiseasesNeurologic ManifestationsNervous System DiseasesSigns and SymptomsPathological Conditions, Signs and SymptomsMuscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesNeuromuscular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesVision DisordersSensation DisordersCone DystrophyEye Diseases, HereditaryEye DiseasesNeuromuscular ManifestationsAtrophyPathological Conditions, AnatomicalPathologic ProcessesNeurosyphilisCentral Nervous System Bacterial InfectionsBacterial InfectionsBacterial Infections and MycosesInfectionsSyphilisTreponemal InfectionsSpirochaetales InfectionsGram-Negative Bacterial InfectionsCentral Nervous System InfectionsCentral Nervous System DiseasesSpinal Cord Diseases

Study Officials

  • Peter Bauer, Prof.Dr

    Centogene GmbH

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 22, 2016

First Posted

December 15, 2016

Study Start

August 20, 2018

Primary Completion

March 11, 2022

Study Completion

March 11, 2022

Last Updated

March 24, 2022

Record last verified: 2022-03

Locations

SR(1)AL(1)GE(1)EG(5)PA(1)RO(1)IN(1)LE(1)