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Lysosomal Storage Disorders - ClinicalTrials.gov

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Last Updated: 02 April 2022

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Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders

Patients with lysosomal storage disease have a broad spectrum of medical disorders. When an enzyme that is required for breaking down intracellular fats, proteins, recycled products, and organelles in the cell is missing, Lysosomal storage disorders develop. Gaucher disease, the most common lysosomal storage disease, results from aninherited deficit of the enzyme glucocerebrosidase, which breaks down the lipid glucocerebroside. Traditionally, GD has been divided into three clinical subtypes, type 1, type 2, and type 3, categorized by the absence or presence of neurologic involvement and rate of progression. Some patients, on the other hand, defy classification into these three categories, and it could be more appropriate to think of GD as a continuum of phenotypes. Patients and carriers of mutations in GBA1, the gene for GD, are at a greater risk of experiencing Parkinson disease and other neurodegenerative disorders in addition. This is a longitudinal natural history study of patients with lysosomal storage disorders with a focus on phenotypic heterogeneity of GD and those at risk for parkinsonism. Our aim is to identify individuals with milder or early phenotypic signs, as well as the natural history and prevalence of related clinical manifestations. We also look at subjects with GBA1 mutations that are at a higher risk of developing parkinsonism in order to determine early disease symptoms and potential biomarkers.

Source link: https://clinicaltrials.gov/ct2/show/NCT00001215

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions