Increased Lordosis/ScoliosisBioDuchenneNCT02994030
Biomarker for Duchenne Muscular Dystrophy
An observational study of Increased Lordosis/Scoliosis and Hyporeflexia, run by CENTOGENE GmbH Rostock at 12 sites in 8 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 months to 50 years
- Conditions the study is for
- Increased Lordosis/Scoliosis, Hyporeflexia, Duchenne Muscular Dystrophy
- How many people
- 103 participants
- Where
- 12 sitesin 8 countries
- Study dates
- 20 Aug 2018to 11 Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Participants with Duchenne Muscular Dystrophy (DMD)
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
12 sites in 8 countries.
12 sites in 8 countries
Egypt5 sites
Department of Pediatric,Faculty of Medicine, Alexandria University Children's Hospital
Alexandria, 21131
Ain Shams University-Medical Genetics
Cairo, 11566
Ain Shams University
Cairo
Ain Shams Univirsity
Cairo
Departmnet of Pediatrics, Tanta University
Tanta, 31527
Georgia1 site
Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University
Tbilisi, 0177
India1 site
Amrita Institute of Medical Sciences & Research Centre
Kochi, Kerala, 682041
Pakistan1 site
Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
Lahore, 54600
Romania1 site
Emergency Hospital for Children "Louis Turcanu"
Timișoara, 682041
About this study
Official title: 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.
Read the 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.
- Conditions
- Increased Lordosis/Scoliosis, Hyporeflexia, Duchenne Muscular Dystrophy, Red-Green Color Blindness, Lordosis, Scoliosis
- Keywords
- Duchenne Disease, Biomarker
- Medical subject headings
- Scoliosis, Reflex, Abnormal, Muscular Dystrophy, Duchenne, Color Vision Defects, Lordosis, Muscular Atrophy, Muscle Weakness, Tabes Dorsalis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants with Duchenne Muscular Dystrophy (DMD) | Participants diagnosed with Duchenne Muscular Dystrophy (DMD) aged between 2 months and 50 years |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 36 weeks
Secondary outcomes (1)
Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s
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.
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Dec 2016 (estimated)
- Study start20 Aug 2018
- Primary completion11 Mar 2022
- Study completion11 Mar 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Increased Lordosis/ScoliosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 103 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof.Dr, Study chair, Centogene GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02994030
- Sponsor's protocol ID
- BDMD 6-2018
- Acronym
- BioDuchenne
- Status last verified
- Mar 2022
- First submitted
- 22 Nov 2016
- Last updated
- 24 Mar 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol
- ClinicalTrials.gov ID
- NCT02994030
- Acronym / sponsor ID
- BioDuchenne / BDMD 6-2018
- Conditions
- Increased Lordosis/Scoliosis, Hyporeflexia, Duchenne Muscular Dystrophy, Red-Green Color Blindness, Lordosis, Scoliosis
- Keywords
- Duchenne Disease, Biomarker
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 103 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 20 Aug 2018 (actual)
- Primary completion
- 11 Mar 2022 (actual)
- Study completion
- 11 Mar 2022 (actual)
- First posted
- 15 Dec 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Duchenne Muscular Dystrophy (DMD) | – | –Participants diagnosed with Duchenne Muscular Dystrophy (DMD) aged between 2 months and 50 years |
Who may qualify
- Ages
- 2 months to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants with Duchenne Muscular Dystrophy (DMD)
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s
Time frame: 36 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Mar 2022.
- Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.Link provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Bauer, Prof.Dr study chair
Centogene GmbH
12 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Increased Lordosis/Scoliosis and Hyporeflexia, run by CENTOGENE GmbH Rostock at 12 sites in 8 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 24 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites in Egypt, Albania, Georgia, India, Lebanon and 3 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of DMD biomarker/s (time frame: 36 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Mar 2022.