Developmental DelayBioSlyNCT02298699
Biomarker for Sly Disease (MPS VII) (BioSly)
An observational study of Developmental Delay and Skeletal Abnormalities, 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 Sly disease from blood (plasma) Read more about this study
- Who is it for?
- Ages 2 months and older
- Conditions the study is for
- Developmental Delay, Skeletal Abnormalities, Hepatomegaly
- 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 2 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Sly disease or high-grade suspicion for Sly disease
Who may be able to join
- Informed consent will be obtained from the parents before any study related procedures
- Patients of both genders older than 2 months
- The patient has a diagnosis of Sly disease or a high-grade suspicion for Sly disease
- High-grade suspicion present, if one or more inclusion criteria are valid:
- Positive family anamnesis for Sly disease
- Developmental delay and/or progressive mental deterioration
Show all 9Show fewer
- Skeletal abnormalities
- Hepatomegaly
- Splenomegaly
Who cannot join
- No Informed consent from the parents before any study related procedures.
- Patients of both genders younger than 2 months
- No diagnosis of Sly disease or no valid criteria for profound suspicion of Sly 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 Sly Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
Development of a new MS-based biomarker for the early and sensitive diagnosis of Sly disease from blood (plasma)
Read the detailed description
Mucopolysaccharidosis type VII (also known as Sly syndrome or Sly disease) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. This enzyme is needed to break down substances in the body called glycosaminoglycans (GAGs). If the enzyme is not present, GAGs cannot be broken down and they build up in the cells and damage them. This causes a wide range of problems such as short stature, skeletal abnormalities, joint stiffness, enlarged spleen and liver, lung infections, heart problems and hernias. Patients usually die within the first year of life, although some survive into their teenage years.
Mucopolysaccharidosis type VII is a life-threatening disease with many patients dying in early childhood. It also debilitating due to the physical and skeletal abnormalities that occur.
Sly syndrome is characterized by coarse facial features, hepatosplenomegaly, protruding sternum and dystosis multiplex. Dystosis multiplex refers to a constellation of skeletal abnormalities and is characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped sella and abnormal spacing of the teeth with dentigerous cysts. There is anterior hypoplasia of the lumbar vertebrae, the long bone diaphyses are enlarged and an irregular appearance of the metaphyses. The epiphyseal centers not well developed, the pelvis is poorly formed with small femoral heads and coxa valga. The clavicles are short, thick and irregular and the ribs are oar shaped. Phalanges are shortened and trapezoidal in shape.
At the time of designation, mucopolysaccharidosis type VII affected approximately 0.001 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 50 people, and is below the ceiling for orphan designation, which is 5 people in 10,000.
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
Therefore it is the goal of the study to identify and validate a new biochemical marker from the plasma of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.
- Keywords
- Sly Disease, Biomarker
- Medical subject headings
- Learning Disabilities, Hepatomegaly, Splenomegaly, Mucopolysaccharidosis VII
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 Sly disease or high-grade suspicion for Sly 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 Sly 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 months
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 posted24 Nov 2014 (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 Developmental DelayStudies 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
- NCT02298699
- Sponsor's protocol ID
- BSLY 06-2018
- Acronym
- BioSly
- Status last verified
- Feb 2023
- First submitted
- 23 Oct 2014
- 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 Sly Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL
- ClinicalTrials.gov ID
- NCT02298699
- Acronym / sponsor ID
- BioSly / BSLY 06-2018
- Keywords
- Sly 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
- 24 Nov 2014 (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 Sly disease from blood (plasma)
Detailed description
Mucopolysaccharidosis type VII (also known as Sly syndrome or Sly disease) is an inherited disease caused by a lack of the enzyme beta-glucuronidase. This enzyme is needed to break down substances in the body called glycosaminoglycans (GAGs). If the enzyme is not present, GAGs cannot be broken down and they build up in the cells and damage them. This causes a wide range of problems such as short stature, skeletal abnormalities, joint stiffness, enlarged spleen and liver, lung infections, heart problems and hernias. Patients usually die within the first year of life, although some survive into their teenage years.
Mucopolysaccharidosis type VII is a life-threatening disease with many patients dying in early childhood. It also debilitating due to the physical and skeletal abnormalities that occur.
Sly syndrome is characterized by coarse facial features, hepatosplenomegaly, protruding sternum and dystosis multiplex. Dystosis multiplex refers to a constellation of skeletal abnormalities and is characterized by an enlarged skull, thickened calvarium, premature closure of lamboid and sagittal sutures, shallow orbits, enlarged J-shaped sella and abnormal spacing of the teeth with dentigerous cysts. There is anterior hypoplasia of the lumbar vertebrae, the long bone diaphyses are enlarged and an irregular appearance of the metaphyses. The epiphyseal centers not well developed, the pelvis is poorly formed with small femoral heads and coxa valga. The clavicles are short, thick and irregular and the ribs are oar shaped. Phalanges are shortened and trapezoidal in shape.
At the time of designation, mucopolysaccharidosis type VII affected approximately 0.001 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 50 people, and is below the ceiling for orphan designation, which is 5 people in 10,000.
New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood (plasma) of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.
Therefore it is the goal of the study to identify and validate a new biochemical marker from the plasma of the affected patients helping to benefit other patients 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 Sly disease or high-grade suspicion for Sly disease |
Who may qualify
- Ages
- 2 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Sly disease or high-grade suspicion for Sly disease
Key inclusion criteria (9 listed)
- Informed consent will be obtained from the parents before any study related procedures
- Patients of both genders older than 2 months
- The patient has a diagnosis of Sly disease or a high-grade suspicion for Sly disease
- High-grade suspicion present, if one or more inclusion criteria are valid:
- Positive family anamnesis for Sly disease
Key exclusion criteria (3 listed)
- No Informed consent from the parents before any study related procedures.
- Patients of both genders younger than 2 months
- No diagnosis of Sly disease or no valid criteria for profound suspicion of Sly 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 Sly disease from blood (plasma)
Time frame: 24 months
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
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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 Developmental Delay and Skeletal Abnormalities, 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 9 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 Sly disease from blood (plasma) (time frame: 24 months). 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.