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Investigating Lysosomal Storage Diseases in Minority Groups

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02120235
Recruitment Status : Unknown
Verified April 2017 by O & O Alpan LLC.
Recruitment status was:  Recruiting
First Posted : April 22, 2014
Last Update Posted : April 4, 2017
Information provided by (Responsible Party):
O & O Alpan LLC

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

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Study Type : Observational
Estimated Enrollment : 20000 participants
Observational Model: Other
Time Perspective: Other
Study Start Date : February 2014
Estimated Primary Completion Date : February 2018
Estimated Study Completion Date : December 2018

Primary Outcome Measures :
  1. Number of patients identified with lysosomal storage disorders [ Time Frame: 2 years ]

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02120235

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

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United States, Virginia
O&O Alpan, LLC Recruiting
Fairfax, Virginia, United States, 22030
Contact: Ozlem Goker-Alpan, M.D.    571-308-1900   
Contact: Shiwei Song, MD    571-308-1909   
Sponsors and Collaborators
O & O Alpan LLC

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Responsible Party: O & O Alpan LLC Identifier: NCT02120235     History of Changes
Other Study ID Numbers: 14-CFCT-11
First Posted: April 22, 2014    Key Record Dates
Last Update Posted: April 4, 2017
Last Verified: April 2017
Keywords provided by O & O Alpan LLC:
Lysosomal storage disorders
Gaucher disease
Fabry disease
Pompe disease
Niemann-Pick disease
Additional relevant MeSH terms:
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Fabry Disease
Gaucher Disease
Glycogen Storage Disease Type II
Pick Disease of the Brain
Niemann-Pick Diseases
Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type C
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolic Diseases
Lipid Metabolism Disorders
Glycogen Storage Disease
Neurocognitive Disorders
Mental Disorders
Speech Disorders
Language Disorders
Communication Disorders
Neurodegenerative Diseases
Lymphatic Diseases