NCT02120235

Investigating Lysosomal Storage Diseases in Minority Groups

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 20,000 (estimated)
• Sponsor: O & O Alpan LLC · Academic / Other
• Sex: All
• Age: 1 Day – 100 Years
• Healthy volunteers: Accepted

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.

Conditions

• Lysosomal Storage Disorders
• Gaucher Disease
• Fabry Disease
• Pompe Disease
• Niemann-Pick Disease

Timeline

• Start date: 2014-02-01
• Primary completion: 2018-02-01
• Completion: 2018-12-01
• First posted: 2014-04-22
• Last updated: 2017-04-04

Locations

1 site across 1 country: United States