Investigating Lysosomal Storage Diseases in Minority Groups

Conditions:Neurology, Neurology, Hematology, Diabetes, Metabolic, Metabolic
Therapuetic Areas:Endocrinology, Hematology, Neurology, Pharmacology / Toxicology
Age Range:Any - 100
Start Date:February 2014
End Date:December 2018
Contact:Ozlem Goker-Alpan, M.D.

Use our guide to learn which trials are right for you!

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.

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
We found this trial at
Fairfax, Virginia 22031
Phone: 571-308-1900
Fairfax, VA
Click here to add this to my saved trials