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The purpose of the study is to evaluate the safety and efficacy of two dose levels of Naglazyme in infants under the age of one year who have MPS VI by monitoring physical appearance, x-ray of the skeletal system and growth.
The primary objective of the study was to evaluate the efficacy of two dose levels of Naglazyme in preventing the progression of skeletal dysplasia in infants under the age of one year who have MPS VI by monitoring physical appearance, x-ray of the skeletal system and growth.
The secondary objective of the study was to evaluate the efficacy of the two dose levels of Naglazyme in preventing several measures of disease progression in infants under the age of one year who have MPS VI by monitoring urinary GAGs, gross and fine motor function, cardiac function, vision, hearing, and use of health resources.
The safety objective of the study was to evaluate the safety of two dose levels of Naglazyme in infants under the age of one year who have MPS VI.
Allocation: Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Prevention
Children's Hospital Los Angeles
Published on BioPortfolio: 2014-07-23T21:45:52-0400
The purpose of this study is to evaluate the long-term efficacy and safety of rhASB treatment in patients with Mucopolysaccharidosis VI.
The purpose of this study in patients with mucopolysaccharidosis type II (MPS II) is below, - to collect the safety information of JR-141 - to evaluate the plasma pharmacokinetics ...
The study quantitates behavioral challenges in mucopolysaccharidosis type I-III and parental coping strategies
A Phase II/ III multicenter, open-label, single-group, designed to evaluate the efficacy and safety of study drug for the treatment of the MPS II.
This study investigated the safety and efficacy of gene therapy approaches for Mucopolysaccharidosis type VI disease caused by the deficiency of arylsulfatase B (ARSB) enzyme. The aim of t...
Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate o...
To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis.
Mucopolysaccharidosis (MPS) are rare inherited metabolic diseases, causing lysosomal storage of mucopolysaccharides; clinical presentation involves skeletal system and particularly the spine. Anomalie...
Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder caused by GALNS gene mutation. The aim of our study is to detect pathogenic variants for patients susp...
The aim of this study was to analyze the clinical and imaging features of a pediatric patient with mucopolysaccharidosis type IIIA (MPS IIIA) and a novel mutation of the N-sulfoglucosamine sulfohydrol...
Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
Radiology is the branch of medicine that studies imaging of the body; X-ray (basic, angiography, barium swallows), ultrasound, MRI, CT and PET. These imaging techniques can be used to diagnose, but also to treat a range of conditions, by allowing visuali...
Benign Prostatic Hyperplasia (BPH) Erectile Dysfunction Urology Urology is the branch of medicine concerned with the urinary tract and diseases that affect it. Examples include urethritis, urethrostenosis and incontinence. Urology is a su...