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| Name | Class |
|---|---|
| Children's Hospital of Philadelphia | OTHER |
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To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential new biomarkers of disease in patients with FRDA.
Primary Objective:
The primary objective of this study is to identify whether frataxin levels and specific RNAs and proteins in blood and buccal cells differ between patients with FRDA and controls.
Secondary Objective:
The secondary objectives of this study are:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| FRDA Subjects | Male and female subjects with FRDA confirmed by genetic testing (aim for a 50:50 distribution of males to females) |
| |
| Controlled Subjects | Male and female control subjects (matched by age [+/- 2 years] and sex) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Buccal Swabs and Blood Draws | Diagnostic Test | Buccal Swabs - Frataxin & specific RNA markers Blood Draws - Lipid panel, Uric Acid, Protein Marker Analysis and PAX Gene RNA Analysis |
| Measure | Description | Time Frame |
|---|---|---|
| Difference in frataxin levels, specific RNAs and proteins | Difference in frataxin levels, specific RNAs and proteins between FRDA patients and control patients. | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| Variability in frataxin levels, specific RNAs and proteins | Variability in frataxin levels, specific RNAs and proteins between FRDA patients and control patients. | 1 day |
| Correlation of frataxin levels, specific RNAs and proteins in FRDA patients |
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Inclusion Criteria:
Exclusion Criteria:
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FRDA patients will be recruited using the Principal Investigator's (PI's) clinical practice.
Control patients will be obtained through family members or friends of affected individuals, as well as non-FRDA patients in the PI's practice.
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| Name | Affiliation | Role |
|---|---|---|
| David Lynch, M.D. | Children's Hospital of Philadelphia | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The Children's Hospital of Philadelphia | Philadelphia | Pennsylvania | 19104 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 22162061 | Background | Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Sacca F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526. | |
| 19376812 | Background |
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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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Plasma, Buccal Cell and PAX Gene Blood Samples for RNA
Correlation of frataxin levels, specific RNAs and proteins with features of FRDA in patients with FRDA.
| 1 day |
| Correlation of frataxin levels, specific RNAs and proteins | Correlation of frataxin levels, specific RNAs and proteins with triglycerides, HDL, LDL and other lipid levels between FRDA patients and control patients. | 1 day |
| Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet. 2009 Jul 1;18(13):2452-61. doi: 10.1093/hmg/ddp183. Epub 2009 Apr 17. |
| 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 |