An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD)

2014-07-23 21:09:44 | BioPortfolio


The objective of this study is to evaluate the natural history of disease progression in infants with globoid cell leukodystrophy (GLD).


This study is being conducted to gather prospective data on disease progression in infants diagnosed with GLD. This study will be performed using protocol-defined, standardized assessments including clinical, developmental, and neurologic measures. All study visits will be conducted in the subject's home. No travel to the study site is necessary.

Study Design

Observational Model: Cohort, Time Perspective: Prospective


Leukodystrophy, Globoid Cell


Harbor-UCLA Medical Center
United States




Shire Human Genetic Therapies, Inc.

Results (where available)

View Results


Published on BioPortfolio: 2014-07-23T21:09:44-0400

Clinical Trials [32 Associated Clinical Trials listed on BioPortfolio]

Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD)

This study is designed to assess the safety and exploratory efficacy of using HSC835 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.

Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy

Evaluating the safety and efficacy of Lentiviral Hematopoietic Stem Cell Gene Therapy for advanced stage of Metachromatic Leukodystrophy and adrenoleukodystrophy.

Biomarker for Metachromatic Leukodystrophy Disease

Development of a new MS-based biomarker for the early and sensitive diagnosis of metachromatic leukodystrophy disease from plasma. Testing for clinical robustness, specificity and long-ter...

HSCT for High Risk Inherited Inborn Errors

Hematopoietic stem cell transplantation has proven effective therapy for individuals with adrenoleukodystrophy (ALD), metachromatic leukodystrophy (MLD) or globoid cell leukodystrophy (GLD...

The Natural History of Metachromatic Leukodystrophy

There have not been longitudinal studies which track patients' neurologically or developmentally in a systematic manner. By simultaneously tracking patients' neurodevelopment along with n...

PubMed Articles [15489 Associated PubMed Articles listed on BioPortfolio]

Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease.

Krabbe disease (KD), or globoid cell leukodystrophy, is an inherited lysosomal storage disease with leukodystrophy caused by a mutation in the galactosylceramidase (GALC) gene. The majority of patient...

Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy.

LMNB1-related autosomal dominant leukodystrophy is caused by an overexpression of the protein lamin B1, usually due to a duplication of the LMNB1 gene. Symptoms start in 5 to 6 decade. This slowly pro...

Cross Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery: Application to Polymeric Nanoparticles.

Polymeric nanoparticles (NPs) represent one of the most promising tools in nanomedicine and have been extensively studied for the delivery of water-insoluble drugs. However, the efficient loading of t...

GFAP Mutations in Astrocytes Impair Oligodendrocyte Progenitor Proliferation and Myelination in an hiPSC Model of Alexander Disease.

Alexander disease (AxD) is a leukodystrophy that primarily affects astrocytes and is caused by mutations in the astrocytic filament gene GFAP. While astrocytes are thought to have important roles in c...

Metachromatic Leukodystrophy-Reply.

Medical and Biotech [MESH] Definitions

An enzyme that hydrolyzes galactose from ceramide monohexosides. Deficiency of this enzyme may cause globoid cell leukodystrophy (LEUKODYSTROPHY, GLOBOID CELL). EC

An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.

Cerebrosides which contain as their polar head group a galactose moiety bound in glycosidic linkage to the hydroxyl group of ceramide. Their accumulation in tissue, due to a defect in beta-galactosidase, is the cause of galactosylceramide lipidosis or globoid cell leukodystrophy.

Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC

An enzyme that catalyzes the hydrolysis of cerebroside 3-sulfate (sulfatide) to yield a cerebroside and inorganic sulfate. A marked deficiency of arylsulfatase A, which is considered the heat-labile component of cerebroside sulfatase, has been demonstrated in all forms of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC

More From BioPortfolio on "An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD)"

Quick Search


Searches Linking to this Trial