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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Number of patients identified with lysosomal storage disorders | 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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The study population will comprise of patients of healthcare institutions in the Washington, D.C. metro area .
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Ozlem Goker-Alpan, M.D. | Contact | 571-308-1900 | ogokeralpan@oandoalpan.com |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| O&O Alpan, LLC | Recruiting | Fairfax | Virginia | 22030 | United States |
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| ID | Term |
|---|---|
| D016464 | Lysosomal Storage Diseases |
| D005776 | Gaucher Disease |
| D000795 | Fabry Disease |
| D006009 | Glycogen Storage Disease Type II |
| D009542 | Niemann-Pick Diseases |
| ID | Term |
|---|---|
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
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Blood
| D009750 | Nutritional and Metabolic Diseases |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D015616 | Histiocytosis, Non-Langerhans-Cell |
| D015614 | Histiocytosis |
| D008206 | Lymphatic Diseases |
| D006425 | Hemic and Lymphatic Diseases |