Mucopolysaccharidosis IINCT04591834
Mucopolysaccharidosis Type II Observational
An observational study of Mucopolysaccharidosis II, run by REGENXBIO Inc. at 3 sites in 2 countries.
Trial summary
This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care and/or intrathecal Elaprase® for their condition. Read more about this study
- Who is it for?
- Ages 1 month to 8 years, men only
- Conditions the study is for
- Mucopolysaccharidosis II
- What is being tested?
- Observational
- How many people
- 0 participants
- Where
- 3 sitesin 2 countries
- Study dates
- Mar 2022to Jul 2025
- 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 1 month to 8 years
- Men only
- No healthy volunteers
- Child
Study population: Up to 40 subjects ages 1 month to 8 years of age who have documented neurocognitive deficits due to MPS II or who have a genotype and family history consistent with an inherited form of severe MPS II will be invited to participate.
Who may be able to join
- Meets any of the following criteria:
- Has a clinical diagnosis of severe MPS II and has a documented mutation in IDS, OR
- Has a relative clinically diagnosed with severe MPS II who has the same IDS mutation as the subject, OR
- Has documented mutation(s) in IDS that in the opinion of the investigator is known to result in a neuronopathic phenotype
- Has sufficient communication capacity to complete the required protocol testing
- Patient's legal guardian must be willing and able to provide written, signed informed consent.
Who cannot join
- Has had prior treatment with an AAV-based gene therapy product
- Is currently participating in a clinical trial of an investigational product for the treatment of MPS II with the exception of IT ELAPRASE trials; no investigational product may be taken starting 30 days or 5 half-lives of the investigational product prior to signing the ICF, whichever is longer
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
United States2 sites
University of California San Francisco, Benioff Children's Hospital
Oakland, California, 94609
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
About this study
Official title: A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)
This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care and/or intrathecal Elaprase® for their condition. Some patients may be offered the opportunity to screen for a gene therapy study conducted by the same sponsor.
Read the detailed description
MPS II is a rare X-linked recessive genetic disease caused by mutations in the iduronate-2-sulfatase gene (IDS). Enzyme replacement therapy (ERT) with recombinant idursulfase (ELAPRASE®) is the only approved product for the treatment of Hunter syndrome; however, ERT as currently administered does not cross the blood brain barrier and is therefore unable to address the unmet need in MPS II patients with CNS (neurocognition and behavior) involvement. This is an observational study to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care for their condition. Approximately forty pediatric subjects who have severe MPS II will be enrolled. Changes in neurodevelopmental parameters of cognitive, behavioral, and adaptive function over time will be the primary focus for a duration of 104 weeks.
- Conditions
- Mucopolysaccharidosis II
- Being tested
- Observational
- Keywords
- MPS II, Gene Therapy, Hunter
- 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.
ObservationalOther
An observational study in subjects with the severe form of MPS II.
| Study group | Role | What they receive |
|---|---|---|
| Observational | No Intervention Receives: Other: Observational |
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in neurodevelopmental parameters of cognitive function over time
Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)
Measured: 104 weeks
Changes in neurodevelopmental parameters of cognitive function over time
Mullen Scales of Early Learning (MSEL) Visual Reception Domain
Measured: 104 weeks
Changes in neurodevelopmental parameters of adaptive behavior function over time
Vineland Adaptive Behavior Scales Second Edition (VABS-II)
Measured: 104 weeks
Secondary outcomes (6)
Changes in disease-specific biomarkers over time
I2S activity
Measured: 104 weeks
Changes in disease-specific biomarkers over time
GAGs
Measured: 104 weeks
Changes in quality of life
PedsQL
Measured: 104 weeks
Changes in quality of life
ADL
Measured: 104 weeks
Changes in Caregiver reported outcome
Family Burden of Illness Survey
Measured: 104 weeks
Changes in sleep
SDSC
Measured: 104 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Oct 2020
- Study startMar 2022 (estimated)
- Primary completionJul 2025 (estimated)
- Study completionJul 2025 (estimated)
Why it stopped: Sponsor decision
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis IIStudies 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
- Other
- Time perspective
- Prospective
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Lead sponsor
- REGENXBIO Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04591834
- Sponsor's protocol ID
- RGX-121-9101
- Status last verified
- Oct 2022
- First submitted
- 23 Sep 2020
- Last updated
- 10 Oct 2022
- Results posted
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Oct 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)
- ClinicalTrials.gov ID
- NCT04591834
- Acronym / sponsor ID
- RGX-121-9101
- Conditions
- Mucopolysaccharidosis II
- Keywords
- MPS II, Gene Therapy, Hunter
- Study type
- Observational
- Recruitment status
- WithdrawnReason stopped: Sponsor decision
- Enrolment
- 0 participants (actual)
- Lead sponsor
- REGENXBIO Inc.Industry (pharma, biotech, devices)
- Study start
- Mar 2022 (estimated)
- Primary completion
- Jul 2025 (estimated)
- Study completion
- Jul 2025 (estimated)
- First posted
- 19 Oct 2020 (actual)
- 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.
This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care and/or intrathecal Elaprase® for their condition. Some patients may be offered the opportunity to screen for a gene therapy study conducted by the same sponsor.
Detailed description
MPS II is a rare X-linked recessive genetic disease caused by mutations in the iduronate-2-sulfatase gene (IDS). Enzyme replacement therapy (ERT) with recombinant idursulfase (ELAPRASE®) is the only approved product for the treatment of Hunter syndrome; however, ERT as currently administered does not cross the blood brain barrier and is therefore unable to address the unmet need in MPS II patients with CNS (neurocognition and behavior) involvement. This is an observational study to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care for their condition. Approximately forty pediatric subjects who have severe MPS II will be enrolled. Changes in neurodevelopmental parameters of cognitive, behavioral, and adaptive function over time will be the primary focus for a duration of 104 weeks.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Observational | – | Other: ObservationalNo Intervention |
Who may qualify
- Ages
- 1 month to 8 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Up to 40 subjects ages 1 month to 8 years of age who have documented neurocognitive deficits due to MPS II or who have a genotype and family history consistent with an inherited form of severe MPS II will be invited to participate.
Key inclusion criteria (6 listed)
- Meets any of the following criteria:
- Has sufficient communication capacity to complete the required protocol testing
- Patient's legal guardian must be willing and able to provide written, signed informed consent.
Key exclusion criteria (2 listed)
- Has had prior treatment with an AAV-based gene therapy product
- Is currently participating in a clinical trial of an investigational product for the treatment of MPS II with the exception of IT ELAPRASE trials; no investigational product may be taken starting 30 days or 5 half-lives of the investigational product prior to signing the ICF, whichever is longer
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| ObservationalAn observational study in subjects with the severe form of MPS II. | Other | Observational |
Primary outcome
Changes in neurodevelopmental parameters of cognitive function over time
Time frame: 104 weeks
Bayley Scales of Infant and Toddler Development Third Edition (BSID-III)
Changes in neurodevelopmental parameters of cognitive function over time
Time frame: 104 weeks
Mullen Scales of Early Learning (MSEL) Visual Reception Domain
Changes in neurodevelopmental parameters of adaptive behavior function over time
Time frame: 104 weeks
Vineland Adaptive Behavior Scales Second Edition (VABS-II)
6 secondary outcomes
Changes in disease-specific biomarkers over time
Time frame: 104 weeks
Changes in disease-specific biomarkers over time
Time frame: 104 weeks
Changes in quality of life
Time frame: 104 weeks
Changes in quality of life
Time frame: 104 weeks
Changes in Caregiver reported outcome
Time frame: 104 weeks
Changes in sleep
Time frame: 104 weeks
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 10 Oct 2022.
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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.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis II, run by REGENXBIO Inc. at 3 sites in 2 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 6 inclusion and 2 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 10 Oct 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Canada. 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?
Changes in neurodevelopmental parameters of cognitive function over time (time frame: 104 weeks). The study lists 3 primary outcomes in all. 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 Oct 2022; AzTrials last refreshed its copy on 30 Oct 2026.