Mucopolysaccharidosis IINCT03529786
Mucopolysaccharidosis Type II Natural History
An observational study of Mucopolysaccharidosis II, run by REGENXBIO Inc. at 3 sites in 3 countries.
Trial summary
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in characteristic storage lesions and diverse disease sequelae, and in patients with the more… Read more about this study
- Who is it for?
- Any age, men only
- Conditions the study is for
- Mucopolysaccharidosis II
- How many people
- 36 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 27 Sep 2017to 22 Mar 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 Any age
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Children diagnosed with Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome
Who may be able to join
- Documented diagnosis of MPS II confirmed by enzyme activity as measured in plasma, fibroblasts, or leukocytes
- The subject has at least one of the neurocognitive assessments listed below, which occurred prior to age 6 and in or after 2006 in their medical records.
- Bayley Scales of Infant and Toddler Development (BSID), any version
- Differential Ability Scale (DAS), any version
- Griffiths Mental Development Scale (GMDS), any version
- Kaufman Assessment Battery for Children (KABC), any version
Show all 14Show fewer
- Kinder Infant Development Scale (KIDS)
- Kyoto Scale of Psychological Development (KSPD), any version
- Leiter International Performance Scale (LIPS), any version
- Mullen Scales of Early Learning (MSEL), any version
- Vineland Adaptive Behavior Scales (VABS), any version
- Wechsler Intelligence Scale for Children (WISC), any version
- Wechsler Preschool and Primary Scale of Intelligence (WPPSI), any version
- If the subject has undergone hematopoietic stem cell transplantation (HSCT), they must have at least one neurocognitive assessment prior to HSCT.
Who cannot join
None listed.
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
United States1 site
Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders
Pittsburgh, Pennsylvania, 15224
Brazil1 site
Hospital de Clinicas de Porto Alegre
Porto Alegre, Rio Grande do Sul, 90035-903
About this study
Official title: A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome)
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in characteristic storage lesions and diverse disease sequelae, and in patients with the more severe form of the disease, irreversible neurocognitive decline and higher morbidity and mortality than in patients with the attenuated form of the disease.
There is currently limited information on the natural history of MPS II, especially with respect to neurocognitive decline in patients with the more severe form of the disease. This study is planned to be an observational medical records review study (data collected retrospectively and no investigational product treatment or procedures) in subjects with the severe form of MPS II. Collectively, the data may inform the design of future MPS II gene therapy treatment studies and may be utilized as historical comparative control data.
- Conditions
- Mucopolysaccharidosis II
- Keywords
- Hunter Syndrome, Natural History, Iduronate-2-sulfatase, glycosaminoglycans
- 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 |
|---|---|---|
| Retrospective | An observational medical records review study (data collected retrospectively) in subjects with the severe form of MPS II. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart.
There are 10 neurocognitive measures that provide intelligence quotients (IQ) scores and/or developmental quotients (DQ) scores.
Measured: Up to 10 years old
Secondary outcomes (2)
Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.
Documentation in medical chart regarding date and age of onset of:
Disease Characteristics, General Appearance, Neurologic/Psychiatric, Cardiovascular, Ocular, Musculoskeletal, Auditory, Respiratory, Gastroenterology/Urinary, Interventional Medications, Other Interventions, ER and Hospitalization History, MRI History, ECG History
Measured: Up to 10 years old
Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.
Documentation in medical chart regarding date and age of onset of:
Disease Characteristics, General Appearance, Neurologic/Psychiatric, Cardiovascular, Ocular, Musculoskeletal, Auditory, Respiratory, Gastroenterology/Urinary, Interventional Medications, Other Interventions, ER and Hospitalization History, MRI History, ECG History
Measured: Up to 10 years old
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 May 2018
- Study start27 Sep 2017
- Primary completion22 Mar 2022
- Study completion22 Mar 2022
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
- Retrospective
- Enrolment
- 36 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
- NCT03529786
- Sponsor's protocol ID
- RGX-121-002
- Status last verified
- Apr 2022
- First submitted
- 13 Feb 2018
- Last updated
- 26 Apr 2022
- 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 26 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome)
- ClinicalTrials.gov ID
- NCT03529786
- Acronym / sponsor ID
- RGX-121-002
- Conditions
- Mucopolysaccharidosis II
- Keywords
- Hunter Syndrome, Natural History, Iduronate-2-sulfatase, glycosaminoglycans
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 36 participants (actual)
- Lead sponsor
- REGENXBIO Inc.Industry (pharma, biotech, devices)
- Study start
- 27 Sep 2017 (actual)
- Primary completion
- 22 Mar 2022 (actual)
- Study completion
- 22 Mar 2022 (actual)
- First posted
- 18 May 2018 (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.
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in characteristic storage lesions and diverse disease sequelae, and in patients with the more severe form of the disease, irreversible neurocognitive decline and higher morbidity and mortality than in patients with the attenuated form of the disease.
There is currently limited information on the natural history of MPS II, especially with respect to neurocognitive decline in patients with the more severe form of the disease. This study is planned to be an observational medical records review study (data collected retrospectively and no investigational product treatment or procedures) in subjects with the severe form of MPS II. Collectively, the data may inform the design of future MPS II gene therapy treatment studies and may be utilized as historical comparative control data.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Retrospective | – | –An observational medical records review study (data collected retrospectively) in subjects with the severe form of MPS II. |
Who may qualify
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children diagnosed with Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome
Key inclusion criteria (14 listed)
- Documented diagnosis of MPS II confirmed by enzyme activity as measured in plasma, fibroblasts, or leukocytes
- The subject has at least one of the neurocognitive assessments listed below, which occurred prior to age 6 and in or after 2006 in their medical records.
- If the subject has undergone hematopoietic stem cell transplantation (HSCT), they must have at least one neurocognitive assessment prior to HSCT.
Key exclusion criteria (0 listed)
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
Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart.
Time frame: Up to 10 years old
There are 10 neurocognitive measures that provide intelligence quotients (IQ) scores and/or developmental quotients (DQ) scores.
2 secondary outcomes
Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.
Time frame: Up to 10 years old
Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.
Time frame: Up to 10 years old
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 26 Apr 2022.
- 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.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 3 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 3 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 14 inclusion and 0 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 26 Apr 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, Brazil, 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?
Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart. (time frame: Up to 10 years old). 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 26 Apr 2022.