Investigating Lysosomal Storage Diseases in Minority Groups

Sponsor

O & O Alpan LLC (Other)

Overall Status

Unknown status

CT.gov ID

NCT02120235

Collaborator

(none)

20,000

Enrollment

Location

Duration (Months)

345.1

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Lysosomal Storage Disorders Gaucher Disease Fabry Disease Pompe Disease Niemann-Pick Disease

Study Design

Study Type:

Observational

Anticipated Enrollment :

20000 participants

Observational Model:

Other

Time Perspective:

Other

Study Start Date :

Feb 1, 2014

Anticipated Primary Completion Date :

Feb 1, 2018

Anticipated Study Completion Date :

Dec 1, 2018

Outcome Measures

Primary Outcome Measures

Number of patients identified with lysosomal storage disorders [2 years]

Eligibility Criteria

Criteria

Ages Eligible for Study:

1 Day to 100 Years

Sexes Eligible for Study:

All

Accepts 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