Fabry Disease, Gaucher Disease, Lysosomal Storage Disorders, Niemann-Pick Disease, Pompe Disease
Conditions
Keywords
Lysosomal storage disorders, LSD, Gaucher disease, Fabry disease, Pompe disease, Niemann-Pick disease
Brief summary
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.
Interventions
None listed
Sponsors
O & O Alpan LLC
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
1 Days to 100 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of patients identified with lysosomal storage disorders | 2 years |
Countries
United States
Contacts
Primary ContactOzlem Goker-Alpan, M.D.
Outcome results
None listed