Lysosomal Storage DiseaseBioMaroteauxNCT01458613
Biomarker for Maroteaux-Lamy Disease (BioMaroteaux)
An observational study of Lysosomal Storage Disease and Lung Diseases, run by CENTOGENE GmbH Rostock at 5 sites in 4 countries.
Trial summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood Read more about this study
- Who is it for?
- Ages 12 months and older
- Conditions the study is for
- Lysosomal Storage Disease, Lung Diseases, Obstructive Sleep Apnoea
- How many people
- 0 participants
- Where
- 5 sitesin 4 countries
- Study dates
- 20 Aug 2018to 28 Feb 2021
- 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 12 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Maroteaux-Lamy disease
Who may be able to join
- Informed consent will be obtained from the patient or the parents before any study related procedures.
- Patients older than 12 months
- The patient has a diagnosis of Maroteaux-Lamy disease
Who cannot join
- No Informed consent from the patient or the parents before any study related procedures
- Patients younger than 12 months
- The patient has no diagnosis of Maroteaux-Lamy disease
Trial locations and contacts
5 sites in 4 countries.
5 sites in 4 countries
India2 sites
Amrita Institute of Medical Sciences & Research Centre
Kochi, Kerala, 682041
Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)
Mumbai, 400705
Egypt1 site
Children's Hospital, Faculty of Medicine, Ain Shams University
Cairo, 89075
About this study
Official title: Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood
Read the detailed description
Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate break-down with lysosomal accumulation. This accumulation of glycosaminoglycans is responsible for the widespread signs and symptoms found in this disease. Bone destruction in shoulders, hips and skull is often seen by the second decade of life and may become evident later in the knees and spine. Early growth may be normal but eventually slows resulting in short stature. Dysplasia of bones comprising these joints leads to stiffness and restricted movement. The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.
Myelopathy and even tetraplegia can result from vertebral compression. Intelligence is often normal although more severely affected individuals may have some cognitive defects due to impaired vision and hearing. Hepatosplenomegaly is common and compromised respiratory function can result in reduced physical stamina. The tongue is usually enlarged. Accumulation of dermatan sulfate in heart valves may produce insufficiency or restriction of outflow. A diagnosis of Maroteaux-Lamy disease can be confirmed by screening for the common genetic mutations or measuring the level of the arylsulfatase B enzyme activity in a blood sample -- a test that has 100 percent accuracy. Once Maroteaux-Lamy disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended. Carriers are most reliably identified via genetic mutation analysis.
New methods, like mass-spectrometry give a good chance to characterize in the blood (plasma) of affected patents specific metabolic alterations that allow to diagnose in the future the disease earlier, with a higher sensitivity and specificity. Therefore it is the goal of the study to develop new biochemical markers from the plasma of the affected patients helping to benefit the patient by an early diagnose and thereby with an earlier treatment.
- Conditions
- Lysosomal Storage Disease, Lung Diseases, Obstructive Sleep Apnoea, Macroglossia, Eye Abnormalities
- Keywords
- Maroteaux-Lamy Disease, Biomarker
- Medical subject headings
- Lysosomal Storage Diseases, Lung Diseases, Sleep Apnea, Obstructive, Macroglossia, Eye Abnormalities, Mucopolysaccharidosis VI
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 |
|---|---|---|
| Observation | Patients with Maroteaux-Lamy disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma)
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
Measured: 24 month
Secondary outcomes (1)
Testing for clinical robustness, specificity and long-term stability of the biomarker
the goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment
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 posted25 Oct 2011 (estimated)
- Study start20 Aug 2018
- Primary completion28 Feb 2021
- Study completion28 Feb 2021
Why it stopped: Transition into BioMetabol
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Lysosomal Storage DiseaseStudies 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
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof., Study chair, Centogene GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01458613
- Sponsor's protocol ID
- BMAL 06-2018
- Acronym
- BioMaroteaux
- Status last verified
- Feb 2023
- First submitted
- 24 Oct 2011
- Last updated
- 13 Feb 2023
- Results posted
- No
- Data monitoring committee
- No
- 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 13 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
- ClinicalTrials.gov ID
- NCT01458613
- Acronym / sponsor ID
- BioMaroteaux / BMAL 06-2018
- Conditions
- Lysosomal Storage Disease, Lung Diseases, Obstructive Sleep Apnoea, Macroglossia, Eye Abnormalities
- Keywords
- Maroteaux-Lamy Disease, Biomarker
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Transition into BioMetabol
- Enrolment
- 0 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 20 Aug 2018 (actual)
- Primary completion
- 28 Feb 2021 (actual)
- Study completion
- 28 Feb 2021 (actual)
- First posted
- 25 Oct 2011 (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.
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood
Detailed description
Maroteaux-Lamy disease (MPS VI) is a lysosomal storage disease inherited in an autosomal recessive pattern. The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate break-down with lysosomal accumulation. This accumulation of glycosaminoglycans is responsible for the widespread signs and symptoms found in this disease. Bone destruction in shoulders, hips and skull is often seen by the second decade of life and may become evident later in the knees and spine. Early growth may be normal but eventually slows resulting in short stature. Dysplasia of bones comprising these joints leads to stiffness and restricted movement. The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.
Myelopathy and even tetraplegia can result from vertebral compression. Intelligence is often normal although more severely affected individuals may have some cognitive defects due to impaired vision and hearing. Hepatosplenomegaly is common and compromised respiratory function can result in reduced physical stamina. The tongue is usually enlarged. Accumulation of dermatan sulfate in heart valves may produce insufficiency or restriction of outflow. A diagnosis of Maroteaux-Lamy disease can be confirmed by screening for the common genetic mutations or measuring the level of the arylsulfatase B enzyme activity in a blood sample -- a test that has 100 percent accuracy. Once Maroteaux-Lamy disease is diagnosed, testing of all family members and consultation with a professional geneticist is recommended. Carriers are most reliably identified via genetic mutation analysis.
New methods, like mass-spectrometry give a good chance to characterize in the blood (plasma) of affected patents specific metabolic alterations that allow to diagnose in the future the disease earlier, with a higher sensitivity and specificity. Therefore it is the goal of the study to develop new biochemical markers from the plasma of the affected patients helping to benefit the patient by an early diagnose and thereby with an earlier treatment.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Observation | – | –Patients with Maroteaux-Lamy disease |
Who may qualify
- Ages
- 12 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Maroteaux-Lamy disease
Key inclusion criteria (3 listed)
- Informed consent will be obtained from the patient or the parents before any study related procedures.
- Patients older than 12 months
- The patient has a diagnosis of Maroteaux-Lamy disease
Key exclusion criteria (3 listed)
- No Informed consent from the patient or the parents before any study related procedures
- Patients younger than 12 months
- The patient has no diagnosis of Maroteaux-Lamy disease
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
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma)
Time frame: 24 month
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
1 secondary outcome
Testing for clinical robustness, specificity and long-term stability of the biomarker
Time frame: 36 months
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Feb 2023.
- 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
Related trials for Lysosomal Storage Disease
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingObservational study
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Inherited Disease, Rare Diseases
RecruitingObservational study
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Neurological Regression, Myoclonus
RecruitingObservational study
Parkinson's Disease in Type 1 Gaucher Disease
Parkinson Disease (PD), Type 1 Gaucher Disease
RecruitingObservational study
Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease
Gaucher Disease Type I, Oxidative Stress
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. study chair
Centogene GmbH
5 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Lysosomal Storage Disease and Lung Diseases, run by CENTOGENE GmbH Rostock at 5 sites in 4 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: withdrawn, as of the sponsor's last update on 13 Feb 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in India, Egypt, Germany, Sri Lanka. 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 was withdrawn before enrolling participants, so there are no results.
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?
Development of a new MS-based biomarker for the early and sensitive diagnosis of Maroteaux-Lamy disease from blood (plasma) (time frame: 24 month). 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 13 Feb 2023.