Investigating Lysosomal Storage Diseases in Minority Groups

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2014 by O & O Alpan LLC
Information provided by (Responsible Party):
O & O Alpan LLC Identifier:
First received: April 17, 2014
Last updated: April 21, 2014
Last verified: February 2014

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.

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

Study Type: Observational

Resource links provided by NLM:

Further study details as provided by O & O Alpan LLC:

Primary Outcome Measures:
  • Number of patients identified with lysosomal storage disorders [ Time Frame: 2 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA


Estimated Enrollment: 20000
Study Start Date: February 2014
Estimated Primary Completion Date: February 2016 (Final data collection date for primary outcome measure)

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

The study population will comprise of patients of healthcare institutions in the Washington, D.C. metro area .


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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02120235

Contact: Ozlem Goker-Alpan, M.D. 571-308-1900

United States, Virginia
O&O Alpan, LLC Recruiting
Fairfax, Virginia, United States, 22030
Contact: Ozlem Goker-Alpan, M.D.    571-308-1900   
Sponsors and Collaborators
O & O Alpan LLC
  More Information

No publications provided

Responsible Party: O & O Alpan LLC Identifier: NCT02120235     History of Changes
Other Study ID Numbers: 14-CFCT-01
Study First Received: April 17, 2014
Last Updated: April 21, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by O & O Alpan LLC:
Lysosomal storage disorders
Gaucher disease
Fabry disease
Pompe disease
Niemann-Pick disease

Additional relevant MeSH terms:
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Niemann-Pick Diseases
Fabry Disease
Gaucher Disease
Lysosomal Storage Diseases
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Cardiovascular Diseases
Central Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Histiocytosis, Non-Langerhans-Cell
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lymphatic Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Vascular Diseases processed this record on March 31, 2015