Mucopolysaccharidosis Type II Natural History

Sponsor

REGENXBIO, Inc. (Industry)

Overall Status

Completed

CT.gov ID

NCT03529786

Collaborator

(none)

Enrollment

Locations

53.8

Actual Duration (Months)

Patients Per Site

0.2

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Mucopolysaccharidosis II

Study Design

Study Type:

Observational

Actual Enrollment :

36 participants

Observational Model:

Other

Time Perspective:

Retrospective

Official Title:

A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome)

Actual Study Start Date :

Sep 27, 2017

Actual Primary Completion Date :

Mar 22, 2022

Actual Study Completion Date :

Mar 22, 2022

Arms and Interventions

Arm	Intervention/Treatment
Retrospective An observational medical records review study (data collected retrospectively) in subjects with the severe form of MPS II.

Outcome Measures

Primary Outcome Measures

Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart. [Up to 10 years old]
There are 10 neurocognitive measures that provide intelligence quotients (IQ) scores and/or developmental quotients (DQ) scores.

Secondary Outcome Measures

Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart. [Up to 10 years old]
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
Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart. [Up to 10 years old]
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

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

Male

Accepts Healthy Volunteers:

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.
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
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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders	Pittsburgh	Pennsylvania	United States	15224
2	Hospital de Clinicas de Porto Alegre	Porto Alegre	RS	Brazil	90035-903
3	Manchester Centre for Genomic Medicine	Manchester		United Kingdom