Mucopolysaccharidosis (MPS)NCT01822184
Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
An observational study of Mucopolysaccharidosis (MPS) and Hunter Syndrome, run by Shire at 7 sites in 5 countries.
Trial summary
Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S). Read more about this study
- Who is it for?
- Ages 2 to 18 years, men only
- Conditions the study is for
- Mucopolysaccharidosis (MPS), Hunter Syndrome
- How many people
- 100 participants
- Where
- 7 sitesin 5 countries
- Study dates
- 18 Jan 2013to 5 Oct 2016
- 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 to 18 years
- Men only
- No healthy volunteers
- Child, Adult
Study population: Male MPS II patients between 2<18 years of age at time of informed consent
Who may be able to join
- Patients must meet all of the following criteria to be considered eligible for enrollment:
- a. The patient has a deficiency in iduronate-2-sulfatase enzyme activity AND b. The patient has a documented mutation in the iduronate-2-sulfatase gene. OR c. The patient has a normal enzyme activity level of one other sulfatase
- The patient is male, and is at least 2 years of age and less than 18 years of age at the time of informed consent.
- The patient must have sufficient auditory capacity at enrollment, with or without hearing aids, in the Investigator's judgment to complete the required protocol testing, and be compliant with wearing the aids on scheduled study visits.
- The patient, patient's parent(s), or legally authorized guardian(s) has voluntarily signed an Institutional Review Board / Independent Ethics Committee-approved informed consent and/or assent form(s), as applicable.
Who cannot join
- Patients who meet any of the following criteria will be excluded from the study.
- The patient has clinically significant non-Hunter syndrome-related CNS involvement or medical or psychiatric comorbidity(ies) which, in the investigator's judgment, may interfere with the accurate administration and interpretation of protocol assessments, affect study data, or confound the integrity of study results.
- The patient has a general conceptual ability score (GCA) or a developmental quotient on the cognitive scale below 55 at Screening.
- The patient is participating in an interventional clinical trial or has participated in an interventional clinical trial within 30 days prior to enrollment; participation in non interventional observational studies is permitted.
Trial locations and contacts
7 sites in 5 countries.
7 sites in 5 countries
United States3 sites
University of North Carolina Division of Genetics and Metabolism
Chapel Hill, North Carolina, 27514
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Childrens Hospital & Research Center Oakland
Oakland, California, 94609
Argentina1 site
Hospital Universitario Austral
Pilar, Buenos Aires, B1629ODT
United Kingdom1 site
Central Manchester University Hospitals NHS Foundation Trust Willink Biochemical Genetics Unit, St. Mary's Hospital
Manchester, M13 9WL
About this study
Official title: A Prospective, Longitudinal, Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S). Most MPS II patients will present with some degree of neurodevelopmental involvement, ranging from severe cognitive impairment and behavioral problems to mildly impaired cognition. This is an observational study; no investigational treatment will be administered. The primary objective of this study is to evaluate the neurodevelopmental status of pediatric patients with MPS II over time and to gain information to guide future treatment studies in this patient population.
- Conditions
- Mucopolysaccharidosis (MPS), Hunter Syndrome
- Keywords
- Neurodevelopmental Status, Pediatric Hunter syndrome patients, Central Nervous System (CNS) involvement, Observational study, Cognitive impairment
- Medical subject headings
- Mucopolysaccharidoses, Mucopolysaccharidosis II, Margins of Excision, Cognitive Dysfunction
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 |
|---|---|---|
| No treatment | Observational non-treatment study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II
Measured: 24 months
Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II
Measured: 24 months
Secondary outcomes (3)
Reported adverse events
Type and severity measurements
Measured: 24 months
Medication usage
Measured: 24 months
Quality of life
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Apr 2013 (estimated)
- Study start18 Jan 2013
- Primary completion5 Oct 2016
- Study completion5 Oct 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Mucopolysaccharidosis (MPS)Studies 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
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- Shire
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Study Director, Study director, Takeda
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01822184
- Sponsor's protocol ID
- HGT-HIT-090
- Status last verified
- Mar 2021
- First submitted
- 12 Mar 2013
- Last updated
- 17 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: Takeda provides access to the de-identified individual participant data (IPD) for eligible studies to aid qualified researchers in addressing legitimate scientific objectives (Takeda's data sharing commitment is available on https://clinicaltrials.takeda.com/takedas-commitment?commitment=5). These IPDs will be provided in a secure research environment following approval of a data sharing request, and under the terms of a data sharing agreement.
Publications
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutierrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA. Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. Orphanet J Rare Dis. 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3.
PubMed 37974184
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Longitudinal, Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
- ClinicalTrials.gov ID
- NCT01822184
- Acronym / sponsor ID
- HGT-HIT-090
- Conditions
- Mucopolysaccharidosis (MPS), Hunter Syndrome
- Keywords
- Neurodevelopmental Status, Pediatric Hunter syndrome patients, Central Nervous System (CNS) involvement, Observational study, Cognitive impairment
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- ShireIndustry (pharma, biotech, devices)
- Study start
- 18 Jan 2013 (actual)
- Primary completion
- 5 Oct 2016 (actual)
- Study completion
- 5 Oct 2016 (actual)
- First posted
- 2 Apr 2013 (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.
Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S). Most MPS II patients will present with some degree of neurodevelopmental involvement, ranging from severe cognitive impairment and behavioral problems to mildly impaired cognition. This is an observational study; no investigational treatment will be administered. The primary objective of this study is to evaluate the neurodevelopmental status of pediatric patients with MPS II over time and to gain information to guide future treatment studies in this patient population.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| No treatment | – | –Observational non-treatment study |
Who may qualify
- Ages
- 2 to 18 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Male MPS II patients between 2<18 years of age at time of informed consent
Key inclusion criteria (5 listed)
- Patients must meet all of the following criteria to be considered eligible for enrollment:
- a. The patient has a deficiency in iduronate-2-sulfatase enzyme activity AND b. The patient has a documented mutation in the iduronate-2-sulfatase gene. OR c. The patient has a normal enzyme activity level of one other sulfatase
- The patient is male, and is at least 2 years of age and less than 18 years of age at the time of informed consent.
- The patient must have sufficient auditory capacity at enrollment, with or without hearing aids, in the Investigator's judgment to complete the required protocol testing, and be compliant with wearing the aids on scheduled study visits.
- The patient, patient's parent(s), or legally authorized guardian(s) has voluntarily signed an Institutional Review Board / Independent Ethics Committee-approved informed consent and/or assent form(s), as applicable.
Key exclusion criteria (4 listed)
- Patients who meet any of the following criteria will be excluded from the study.
- The patient has clinically significant non-Hunter syndrome-related CNS involvement or medical or psychiatric comorbidity(ies) which, in the investigator's judgment, may interfere with the accurate administration and interpretation of protocol assessments, affect study data, or confound the integrity of study results.
- The patient has a general conceptual ability score (GCA) or a developmental quotient on the cognitive scale below 55 at Screening.
- The patient is participating in an interventional clinical trial or has participated in an interventional clinical trial within 30 days prior to enrollment; participation in non interventional observational studies is permitted.
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
Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II
Time frame: 24 months
Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II
Time frame: 24 months
3 secondary outcomes
Reported adverse events
Time frame: 24 months
Medication usage
Time frame: 24 months
Quality of life
Time frame: 24 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 17 Mar 2021.
- Derived from this study: PubMed 37974184Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutierrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA. Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. Orphanet J Rare Dis. 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3.
- To obtain more information on the study, click here/on this link.Link provided by the sponsor.
- Individual participant dataSharing planned: Yes. Takeda provides access to the de-identified individual participant data (IPD) for eligible studies to aid qualified researchers in addressing legitimate scientific objectives (Takeda's data sharing commitment is available on https://clinicaltrials.takeda.com/takedas-commitment?commitment=5). These IPDs will be provided in a secure research environment following approval of a data sharing request, and under the terms of a data sharing agreement.
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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.
Study Director study director
Takeda
7 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis (MPS) and Hunter Syndrome, run by Shire at 7 sites in 5 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 5 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: finished, as of the sponsor's last update on 17 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States, Argentina, Mexico, Spain, United Kingdom. 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?
Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II (time frame: 24 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01822184, which also lists 1 linked publication.
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 17 Mar 2021.