Hunter SyndromeBioHunterNCT01330277
Biomarkers for Hunter Syndrome
An observational study of Hunter Syndrome and Mucopolysaccharidosis II, run by CENTOGENE GmbH Rostock at 4 sites in Mexico.
Trial summary
International, multicenter, observational, longitudinal study to establish Hunter Syndrom biomarker/s 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, men only
- Conditions the study is for
- Hunter Syndrome, Mucopolysaccharidosis II, Hunter's Syndrome, Mild Form
- How many people
- 11 participants
- Where
- 4 sitesMexico
- Study dates
- 20 Aug 2018to 31 Dec 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
- Men only
- No healthy volunteers
- Child, Adult
Study population: Male participants with genetically confirmed Hunter syndrome (Mucopolisaccharidosis type 2 or MPS2)
Who may be able to join
- Male individuals
- Informed consent is obtained from the participant's parent/legal guardian
- The participant is aged between 2 months and 50 years of age
- The diagnosis of MPS II is genetically confirmed by CENTOGENE
Who cannot join
- Females
- Informed consent is not provided by the participant's parent/legal guardian
- The participant is younger than 2 months or older than 50 years of age
- The diagnosis of MPS II is not genetically confirmed by CENTOGENE
Trial locations and contacts
4 sites in 1 country.
Mexico4 sites
Centenario Hospital Miguel Hidalgo
Aguascalientes
Private Practice
Cancún, Quintana Roo, 77533
Hospital Infantil de Tampaulipas
Ciudad Victoria
Hospital Pediatrico de Sinaloa
Culiacán, Sinaloa, 80200
About this study
Official title: Biomarkers for Hunter Syndrome: An International, Multicenter, Observational, Longitudinal Protocol
International, multicenter, observational, longitudinal study to establish Hunter Syndrom biomarker/s and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s
Read the detailed description
Mucopolysaccharides are long chains of sugar carbohydrates, found within the cells that help build bone, cartilage, tendons, cornea, skin, and connective tissue. Glycosaminoglycans (GAGs) are also found in the fluids that lubricate joints. Mucopolysaccharidosis (MPS) are part of the Lysosomal Storage Disorder (LSD) family, a group of more than 40 genetic diseases, and occur when a particular enzyme exists in a small quantity or is missing altogether. The effect is the accumulation of GAGs in the cells, blood, and connective tissues, resulting in permanent and progressive cellular damage which affects appearance, physical abilities, organ and system functioning and, in most cases, mental development.
MPS2 (also called Hunter syndrome) is a hereditary, progressive, multisystemic disorder, caused by mutations in the IDS gene coding for the enzyme iduronate sulfatase (Ids). It is the only type of mucopolysaccharidosis that is X-linked, therefore, if mothers are carriers, there is a 50 percent chance for males to be born with the disease.
MPS2 has a wide range of symptoms that vary in severity, which can be managed with enzyme replacement therapy (ERT). ERT is unable to cross the blood-brain barrier, therefore it addresses strictly extra-neurological manifestations. On this note, further efforts are being made to develop novel therapies, in the attempt to stop the disease progression and to offer a better quality of life to the patients.
As MPS2 is very rare and many medical professionals only see a few or no patients in their lifelong practice, genetic testing is crucial for diagnosis. This study thrives to identify, validate, and monitor potential biomarker/s for MPS2 in genetically confirmed samples.
- Conditions
- Hunter Syndrome, Mucopolysaccharidosis II, Hunter's Syndrome, Mild Form, Hunter's Canal Syndrome
- Keywords
- Hunter Disease, Biomarker
- Medical subject headings
- Mucopolysaccharidosis II, Sudden Infant Death
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 Hunter syndrome | Participants diagnosed with Hunter syndrome (Mucopolisaccharidosis type 2) aged between 2 months to 50 years |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identifying MPS II biomarkers
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)
To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers
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 posted6 Apr 2011 (estimated)
- Study start20 Aug 2018
- Primary completion31 Dec 2022
- Study completion31 Dec 2022
Why it stopped: Study no longer pursued.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hunter SyndromeStudies 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
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Arndt Rolfs, Prof. Dr., Principal investigator, CENTOGENE GmbH Rostock
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01330277
- Sponsor's protocol ID
- BH 06-2018
- Acronym
- BioHunter
- Status last verified
- Feb 2023
- First submitted
- 4 Apr 2011
- Last updated
- 10 Feb 2023
- 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 10 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarkers for Hunter Syndrome: An International, Multicenter, Observational, Longitudinal Protocol
- ClinicalTrials.gov ID
- NCT01330277
- Acronym / sponsor ID
- BioHunter / BH 06-2018
- Conditions
- Hunter Syndrome, Mucopolysaccharidosis II, Hunter's Syndrome, Mild Form, Hunter's Canal Syndrome
- Keywords
- Hunter Disease, Biomarker
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Study no longer pursued.
- Enrolment
- 11 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 20 Aug 2018 (actual)
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 31 Dec 2022 (actual)
- First posted
- 6 Apr 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.
International, multicenter, observational, longitudinal study to establish Hunter Syndrom biomarker/s and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s
Detailed description
Mucopolysaccharides are long chains of sugar carbohydrates, found within the cells that help build bone, cartilage, tendons, cornea, skin, and connective tissue. Glycosaminoglycans (GAGs) are also found in the fluids that lubricate joints. Mucopolysaccharidosis (MPS) are part of the Lysosomal Storage Disorder (LSD) family, a group of more than 40 genetic diseases, and occur when a particular enzyme exists in a small quantity or is missing altogether. The effect is the accumulation of GAGs in the cells, blood, and connective tissues, resulting in permanent and progressive cellular damage which affects appearance, physical abilities, organ and system functioning and, in most cases, mental development.
MPS2 (also called Hunter syndrome) is a hereditary, progressive, multisystemic disorder, caused by mutations in the IDS gene coding for the enzyme iduronate sulfatase (Ids). It is the only type of mucopolysaccharidosis that is X-linked, therefore, if mothers are carriers, there is a 50 percent chance for males to be born with the disease.
MPS2 has a wide range of symptoms that vary in severity, which can be managed with enzyme replacement therapy (ERT). ERT is unable to cross the blood-brain barrier, therefore it addresses strictly extra-neurological manifestations. On this note, further efforts are being made to develop novel therapies, in the attempt to stop the disease progression and to offer a better quality of life to the patients.
As MPS2 is very rare and many medical professionals only see a few or no patients in their lifelong practice, genetic testing is crucial for diagnosis. This study thrives to identify, validate, and monitor potential biomarker/s for MPS2 in genetically confirmed samples.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Hunter syndrome | – | –Participants diagnosed with Hunter syndrome (Mucopolisaccharidosis type 2) aged between 2 months to 50 years |
Who may qualify
- Ages
- 2 months to 50 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Male participants with genetically confirmed Hunter syndrome (Mucopolisaccharidosis type 2 or MPS2)
Key inclusion criteria (4 listed)
- Male individuals
- Informed consent is obtained from the participant's parent/legal guardian
- The participant is aged between 2 months and 50 years of age
- The diagnosis of MPS II is genetically confirmed by CENTOGENE
Key exclusion criteria (4 listed)
- Females
- Informed consent is not provided by the participant's parent/legal guardian
- The participant is younger than 2 months or older than 50 years of age
- The diagnosis of MPS II 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
Identifying MPS II biomarkers
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
To explore the clinical robustness, specificity, and long-term variability of MPS II biomarkers
Time frame: 36 months
Results and safety
The study was stopped early (reason given: Study no longer pursued.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Feb 2023.
- CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patients.Link provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Hunter Syndrome
Enrolling by invitationPhase 2/3
An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007
Mucopolysaccharidosis II
Active, not recruitingPhase 3
A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
Mucopolysaccharidosis II
Active, not recruitingPhase 2/3
A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type II, Metabolic Diseases
Active, not recruitingPhase 2/3
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)
Mucopolysaccharidosis II
Active, not recruitingPhase 2
An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II
Mucopolysaccharidosis II
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.
Arndt Rolfs, Prof. Dr. principal investigator
CENTOGENE GmbH Rostock
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hunter Syndrome and Mucopolysaccharidosis II, run by CENTOGENE GmbH Rostock at 4 sites in Mexico.
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 4 inclusion and 4 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: stopped early, as of the sponsor's last update on 10 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 4 sites in Mexico. 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 stopped early (reason given: Study no longer pursued.). Results are not available in the source record.
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?
Identifying MPS II biomarkers (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 10 Feb 2023.