Friedreich Ataxia
Conditions
Brief summary
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.
Detailed description
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: * To understand the variability of frataxin and specific RNAs and proteins identified in buccal cells. * To correlate levels of frataxin and specific RNAs and proteins with features of FRDA. * To correlate levels of frataxin and specific RNAs and proteins with triglycerides, high density lipoprotein (HDL), low density lipoprotein (LDL) levels, and other lipids.
Interventions
DIAGNOSTIC_TESTBuccal Swabs and Blood Draws
Buccal Swabs - Frataxin & specific RNA markers Blood Draws - Lipid panel, Uric Acid, Protein Marker Analysis and PAX Gene RNA Analysis
Sponsors
Children's Hospital of Philadelphia
Larimar Therapeutics, Inc.
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
12 Years to 65 Years
Inclusion criteria
1. Male and female patients with FRDA confirmed by genetic testing (FRDA subjects only). 2. Children and adults between the ages of 12 and 65 (inclusive); age for controls will be +/- 2 years relative to FRDA subjects. 3. Subject (and/or parent/legal guardian) has voluntarily signed consent form. 4. Willingness and ability to comply with all study procedures. 5. Functional Disability Stage (FDS) of 3, 4, or 5 (FRDA subjects only).
Exclusion criteria
1. Treatment with an investigational product within 30 days of study. 2. Use of gamma interferon or receiving any dose of gamma interferon within 90 days of the specimen collection day. 3. Use of any statin medications within 90 days of the specimen collection day. 4. Use of any lipid-lowering agents within 6 weeks of the specimen collection day. 5. Use of daily biotin supplementation that exceeds 30 mcg/day, either as part of a multivitamin or as a standalone supplement, within 7 days of the study visit. 6. Pregnant women.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Difference in frataxin levels, specific RNAs and proteins | 1 day | Difference in frataxin levels, specific RNAs and proteins between FRDA patients and control patients. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Variability in frataxin levels, specific RNAs and proteins | 1 day | Variability in frataxin levels, specific RNAs and proteins between FRDA patients and control patients. |
| Correlation of frataxin levels, specific RNAs and proteins in FRDA patients | 1 day | Correlation of frataxin levels, specific RNAs and proteins with features of FRDA in patients with FRDA. |
| Correlation of frataxin levels, specific RNAs and proteins | 1 day | Correlation of frataxin levels, specific RNAs and proteins with triglycerides, HDL, LDL and other lipid levels between FRDA patients and control patients. |
Countries
United States
Outcome results
None listed