Investigating Lysosomal Storage Diseases in Minority Groups
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Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.
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Ages Eligible for Study:
up to 100 Years (Child, Adult, Senior)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
The study population will comprise of patients of healthcare institutions in the Washington, D.C. metro area .
Subject is greater than or equal to 1 day of age and less than or equal to 100 years of age
Subject is managed by a physician in the Washington, D.C metro area
Subject is getting blood work as part of standard clinical care and there is at least 60 uL blood remained in a tube after all clinical tests were run
Absolute contraindication for blood drawing
Subject cannot be traced back by the referring physician upon a positive screening result
Glycogen Storage Disease Type II
Lysosomal Storage Diseases
Pick Disease of the Brain Niemann-Pick Diseases Niemann-Pick Disease, Type A Niemann-Pick Disease, Type C
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases