Mucopolysaccharidosis Type II Natural History
| Status: | Recruiting |
|---|---|
| Conditions: | Metabolic, Metabolic |
| Therapuetic Areas: | Pharmacology / Toxicology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 11/16/2018 |
| Start Date: | September 27, 2017 |
| End Date: | December 2018 |
| Contact: | Vivian Fernandez |
| Email: | patientadvocacy@regenxbio.com |
| Phone: | 1-866-860-0117 |
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.
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.
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.
We found this trial at
2
sites
4401 Penn Avenue
Pittsburgh, Pennsylvania 15224
Pittsburgh, Pennsylvania 15224
Principal Investigator: Maria Escolar, MD
Phone: 412-692-6351
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Porto Alegre, RS 90035
Principal Investigator: Roberto Giugliani, MD, PhD
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