Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Biomarker for Duchenne Disease (BioDuchenne) (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.
 
ClinicalTrials.gov Identifier: NCT02994030
Recruitment Status : Recruiting
First Posted : December 15, 2016
Last Update Posted : September 17, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

Brief Summary:
Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Duchenne Muscular Dystrophy from dry-blood spot sample

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

  Show Detailed Description

Layout table for study information
Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker for Duchenne Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Actual Study Start Date : August 20, 2018
Estimated Primary Completion Date : July 2021
Estimated Study Completion Date : July 2021


Group/Cohort
Observation
Patients with Duchenne disease or high-grade suspicion for Duchenne disease



Primary Outcome Measures :
  1. Sequencing of the Duchenne Muscular Dystrophy disease related genes [ Time Frame: 4 weeks ]
    Next-Generation Sequencing (NGS) of the DMD gene will be performed. The mutation will be confirmed by Sanger sequencing.


Secondary Outcome Measures :
  1. The Duchenne Muscular Dystrophy disease specific biomarker candidates finding [ Time Frame: 24 months ]
    The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.


Biospecimen Retention:   Samples With DNA

For the development of the new biomarkers using the technique of Mass-spectrometry, maximal 7,5 ml blood will be taken via using a dry blood spot filter card. 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.

The analyses will be done at:

Centogene AG Am Strande 7 18055 Rostock Germany



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.


Layout table for eligibility information
Ages Eligible for Study:   2 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with Duchenne disease or high-grade suspicion for Duchenne disease
Criteria

INCLUSION CRITERIA

  • Informed consent will be obtained from the patient or the parents before any study related procedures.
  • Patients of both genders older than 2 months
  • The patient has a diagnosis of Duchenne disease or a high-grade suspicion for Duchenne disease
  • High-grade suspicion present, if one or more inclusion criteria are valid:

    1. - Positive family anamnesis for Duchenne disease
    2. - Red-green color vision defect
    3. - Increased Lordosis/Scoliosis
    4. - Calf muscle pseudohypertrophy
    5. - Weakness
    6. - Hyporeflexia

EXCLUSION CRITERIA

  • No Informed consent from the patient or the parents before any study related procedures.
  • Patients of both gender younger than 2 months
  • No diagnosis of Duchenne disease or no valid criteria for profound suspicion of Duchenne disease

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
Layout table for location contacts
Contact: Volha Skrahina, Dr +4938180113594 ext 594 volha.skrahina@centogene.com

Locations
Layout table for location information
Egypt
Alexandria Faculty of Medicine - El Khartoum Square - Azarita Recruiting
Alexandria, Egypt
Contact: Tarek Omar, Prof.         
Germany
Centogene AG Active, not recruiting
Rostock, Germany, 18055
India
Amrita Institute of Medical Sciences & Research Centre Recruiting
Cochin, Kerala, India, 682041
Contact: Sheela Nampoothiri, Dr.         
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) Recruiting
Mumbai, India, 400705
Contact: Anil Jalan, Prof.         
Sponsors and Collaborators
Centogene AG Rostock
Investigators
Layout table for investigator information
Principal Investigator: Arndt Rolfs, Prof. Centogene AG Rostock

Additional Information:
Layout table for additonal information
Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT02994030     History of Changes
Other Study ID Numbers: BDMD 6-2018
First Posted: December 15, 2016    Key Record Dates
Last Update Posted: September 17, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centogene AG Rostock:
Duchenne Disease
Biomarker
Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Dystrophy, Duchenne
Tabes Dorsalis
Muscular Dystrophies
Scoliosis
Muscle Weakness
Lordosis
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
Signs and Symptoms
Vision Disorders
Sensation Disorders
Eye Diseases
Pathologic Processes