A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)

2010-07-15 17:00:00 | BioPortfolio


The purpose is to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including standardized clinical, biochemical, neurocognitive, development, and imaging measures.


The purpose of this multicenter longitudinal, prospective, observational, natural history study of patients with MPS IIIA is to identify potential surrogate endpoints that may be utilized in future ERT trials of MPS IIIA via defined assessments including standardized clinical, biochemical, neurocognitive, development, and imaging measures.

Study Design

Observational Model: Cohort, Time Perspective: Prospective


Sanfilippo Syndrome Type A




University of Minnesota
United States




Shire Human Genetic Therapies, Inc.

Results (where available)

View Results


Published on BioPortfolio: 2010-07-15T17:00:00-0400

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An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

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