Mucopolysaccharidosis Type II Natural History | NCT03529786

Studies
Mucopolysaccharidosis Type II Natural History

NCT03529786

Sponsor

REGENXBIO Inc.

Status

Completed

Last Update Posted

Apr 26, 2022Actual

Enrollment

36Actual

Phase

Not provided

Conditions

Mucopolysaccharidosis II

Interventions

Not provided

Countries

United States
Brazil
United Kingdom

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Apr 2022

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 27, 2017Actual

Primary Completion Date

Mar 22, 2022Actual

Completion Date

Mar 22, 2022Actual

First Submitted Date

Feb 13, 2018

First Submission Date that Met QC Criteria

May 7, 2018

First Posted Date

May 18, 2018Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 22, 2022

Last Update Posted Date

Apr 26, 2022Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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 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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

36Actual

Label	Type	Description	Intervention Names
Retrospective		An observational medical records review study (data collected retrospectively) in subjects with the severe form of MPS II.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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.	Up to 10 years old

Secondary Outcomes

Measure	Description	Time Frame
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

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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.
1. Bayley Scales of Infant and Toddler Development (BSID), any version
2. Differential Ability Scale (DAS), any version
3. Griffiths Mental Development Scale (GMDS), any version
4. Kaufman Assessment Battery for Children (KABC), any version
5. Kinder Infant Development Scale (KIDS)
6. Kyoto Scale of Psychological Development (KSPD), any version
7. Leiter International Performance Scale (LIPS), any version
8. Mullen Scales of Early Learning (MSEL), any version
9. Vineland Adaptive Behavior Scales (VABS), any version
10. Wechsler Intelligence Scale for Children (WISC), any version
11. 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.

Accepts Healthy Volunteers

Sex

Male

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Children diagnosed with Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome

Sampling Method

Non-Probability Sample

Facility	Status	City	State	ZIP	Country	Contacts
Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders		Pittsburgh	Pennsylvania	15224	United States

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D016532	Mucopolysaccharidosis II
D013398	Sudden Infant Death

Ancestor Terms

ID	Term
D038901	X-Linked Intellectual Disability
D008607	Intellectual Disability
D019954	Neurobehavioral Manifestations
D009461	Neurologic Manifestations

Browse Leaves

Not provided

Browse Branches

Not provided