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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Medical and Biotech [MESH] Definitions

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

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.

A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

Systematic identification of a population's needs or the assessment of individuals to determine the proper level of services needed.

Evaluation procedures that focus on both the outcome or status (OUTCOMES ASSESSMENT) of the patient at the end of an episode of care - presence of symptoms, level of activity, and mortality; and the process (ASSESSMENT, PROCESS) - what is done for the patient diagnostically and therapeutically.

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