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| Name | Class |
|---|---|
| Clinilabs, Inc. | OTHER |
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To examine range of tissue frataxin (FXN) concentrations, specific ribonucleic acids, other proteins and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without Friedreich's ataxia (FRDA).
Primary Objective: To examine the range of tissue frataxin (FXN) concentrations in the buccal cells, blood, and skin cells of normal healthy volunteers without FRDA.
Secondary Objective: To examine the range of specific ribonucleic acids (RNAs), other proteins, and specialized lipids in the buccal cells, blood, and skin cells of normal healthy volunteers without FRDA.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 18 to 30 years of age group | Consisting of at least 13 males and 13 females |
| |
| 31 to 50 years of age group | Consisting of at least 13 males and 13 females |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Buccal Swabs, Blood Draws and Skin Punch Biopsy | Diagnostic Test | Buccal Swabs - FXN and specific RNA markers; Blood Draws - Lipid panel, Protein Marker Analysis and Gene RNA Analysis; Skin Punch Biopsy - Protein Markers |
| Measure | Description | Time Frame |
|---|---|---|
| Examine tissue frataxin concentrations in buccal cells, blood and skin cells | Range of tissue frataxin levels in buccal cells, blood and skin cells | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| Examine specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood | Range of specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood | 1 day |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects will be recruited from the community.
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| Name | Affiliation | Role |
|---|---|---|
| Magdy Shenouda, M.D. | Clinilabs, Inc. | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Clinilabs Drug Development Corporation | Eatontown | New Jersey | 07724 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20675166 | Background | Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001. Epub 2010 Jul 8. |
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| ID | Term |
|---|---|
| D005621 | Friedreich Ataxia |
| ID | Term |
|---|---|
| D013132 | Spinocerebellar Degenerations |
| D002526 | Cerebellar Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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Buccal cells and blood
| D009422 | Nervous System Diseases |
| D013118 | Spinal Cord Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D028361 | Mitochondrial Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |