Mucopolysaccharidosis Type II Natural History

Completed

Conditions studied: Mucopolysaccharidosis II

In brief

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.

Key facts

Study ID

NCT03529786

Run by

REGENXBIO Inc.

People needed

36

Starts

2017-09-27

Expected to finish

2022-03-22

Last updated by the study team

2022-04-26

Who can join

Age: any. Sex: male. Healthy volunteers: not accepted.

You may qualify if…

• 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.

Where it is running

• Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders — Pittsburgh, Pennsylvania, United States
• Hospital de Clinicas de Porto Alegre — Porto Alegre, Rio Grande do Sul, Brazil
• Manchester Centre for Genomic Medicine — Manchester, United Kingdom

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.