Clinical trial NCT03529786: Mucopolysaccharidosis Type II Natural History
Official title: A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mucopolysaccharidosis II
Keywords: Hunter Syndrome
Natural History
Iduronate-2-sulfatase
glycosaminoglycans
Lead sponsor: REGENXBIO Inc.
Sponsor class: INDUSTRY
First posted: 2018-05-18
Enrollment: 36
Sex: MALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children diagnosed with Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart.
timeFrame: Up to 10 years old
Secondary outcomes:
measure: Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.
timeFrame: Up to 10 years old
measure: Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.
timeFrame: Up to 10 years old
Other outcomes:
Locations:
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders
state: Pennsylvania
city: Porto Alegre
country: Brazil
facility: Hospital de Clinicas de Porto Alegre
state: RS
city: Manchester
country: United Kingdom
facility: Manchester Centre for Genomic Medicine
Study officials:
References: