Investigating Lysosomal Storage Diseases in Minority Groups

About This Study

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.

Conditions Studied

Eligibility

Inclusion Criteria:

* 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

Exclusion Criteria:

* Absolute contraindication for blood drawing
* Subject cannot be traced back by the referring physician upon a positive screening result

Study Locations (1)