Mucopolysaccharidosis Type II Natural History

Mucopolysaccharidosis II Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03529786
• Other study ID #: RGX-121-002
• Status: Completed
• Start date: September 27, 2017
• Est. completion date: March 22, 2022

Study information

• Verified date: April 2022
• Source: Regenxbio Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 36
• Est. completion date: March 22, 2022
• Est. primary completion date: March 22, 2022
• Accepts healthy volunteers: No
• Gender: Male
• Age group: N/A and older

Eligibility

Inclusion Criteria:

1. Documented diagnosis of MPS II confirmed by enzyme activity as measured in plasma, fibroblasts, or leukocytes

2. 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

3. If the subject has undergone hematopoietic stem cell transplantation (HSCT), they must have at least one neurocognitive assessment prior to HSCT.

Related Conditions & MeSH terms

• Mucopolysaccharidoses
• Mucopolysaccharidosis II

Locations

Country	Name	City	State
Brazil	Hospital de Clinicas de Porto Alegre	Porto Alegre	RS
United Kingdom	Manchester Centre for Genomic Medicine	Manchester
United States	Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders	Pittsburgh	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
Regenxbio Inc.

Countries where clinical trial is conducted

United States,  Brazil,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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	Up to 10 years old
Secondary	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	Up to 10 years old