Advertisement

Topics

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

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

Summary

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.

Description

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

Conditions

Sanfilippo Syndrome Type A

Intervention

assessment

Location

University of Minnesota
Minneapolis
Minnesota
United States
55455

Status

Recruiting

Source

Shire Human Genetic Therapies, Inc.

Results (where available)

View Results

Links

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

Clinical Trials [1282 Associated Clinical Trials listed on BioPortfolio]

Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome

This is an open-label, phase I/II study of intra-cerebral administration of adenovirus-associated viral vector containing the human NAGLU cDNA to children suffering from Sanfilippo type B ...

Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy

P2-SAF-301 is an open-label interventional study without administration of investigational product, evaluating the long-term safety and tolerability of intracerebral SAF-301 previously adm...

A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients

MPS IIIA, also known as Sanfilippo A, is an inherited lysosomal storage disease (LSD). MPS IIIA is caused by a deficiency in sulfamidase, one of the enzymes involved in the lysosomal degra...

A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously

This study will evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD)/efficacy of intravenous (IV) administration of recombinant human alpha-N-acetylglucosami...

Assessment of Bone Density and Bone Turnover Markers in Patients With Down Syndrome and Comparison to the Ts65Dn Model

This study may provide information that may serve as the foundation for a larger research study to address issues regarding the causes, diagnosis, and treatment of osteoporosis in the Down...

PubMed Articles [16792 Associated PubMed Articles listed on BioPortfolio]

Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.

Given the large and expanding quantity of publicly available sequencing data, it should be possible to extract incidence information for monogenic diseases from allele frequencies, provided one knows ...

Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice.

Overall Goal: This study was designed to evaluate the impact of pentosan polysulfate (PPS) treatment on mice with mucopolysaccharidosis (MPS) type IIIA (Sanfilippo A syndrome; OMIM 252900).

Psychosocial Functioning in Parents of MPS III Patients.

Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a lysosomal storage disease resulting in progressive neurocognitive decline during childhood and early demise. Its diagnosis may have...

Predominant role of microglia in brain iron retention in Sanfilippo syndrome, a pediatric neurodegenerative disease.

Neuroinflammation and iron accumulation are hallmarks of a variety of adult neurodegenerative diseases. In Sanfilippo syndrome (mucopolysaccharidosis type III, MPSIII, a pediatric neurodegenerative di...

Association between habitual coffee consumption and metabolic syndrome in type 1 diabetes.

In the general population, habitual coffee consumption is inversely associated with the metabolic syndrome, a syndrome that is rather common also in patients with type 1 diabetes. However, whether cof...

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.

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

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.

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.

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.

More From BioPortfolio on "A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)"

Advertisement
Quick Search
Advertisement
Advertisement

 

Searches Linking to this Trial