A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

Study Overview
=================
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.

Official Title
-----------------
A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

Conditions
-----------------
Friedreich Ataxia

Intervention / Treatment
-----------------
* Diagnostic Test: Buccal Swabs and Blood Draws


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Male and female patients with FRDA confirmed by genetic testing (FRDA subjects only). Children and adults between the ages of 12 and 65 (inclusive); age for controls will be +/- 2 years relative to FRDA subjects. Subject (and/or parent/legal guardian) has voluntarily signed consent form. Willingness and ability to comply with all study procedures. Functional Disability Stage (FDS) of 3, 4, or 5 (FRDA subjects only). Exclusion Criteria: Treatment with an investigational product within 30 days of study. Use of gamma interferon or receiving any dose of gamma interferon within 90 days of the specimen collection day. Use of any statin medications within 90 days of the specimen collection day. Use of any lipid-lowering agents within 6 weeks of the specimen collection day. 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. Pregnant women.

Ages Eligible for Study
-----------------
Minimum Age: 12 Years
Maximum Age: 65 Years

Sexes Eligible for Study
-----------------
All

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| FRDA Subjects<br>Male and female subjects with FRDA confirmed by genetic testing (aim for a 50:50 distribution of males to females) | Diagnostic Test: Buccal Swabs and Blood Draws<br>* Buccal Swabs - Frataxin & specific RNA markers Blood Draws - Lipid panel, Uric Acid, Protein Marker Analysis and PAX Gene RNA Analysis<br>|
| Controlled Subjects<br>Male and female control subjects (matched by age [+/- 2 years] and sex) | Diagnostic Test: Buccal Swabs and Blood Draws<br>* Buccal Swabs - Frataxin & specific RNA markers Blood Draws - Lipid panel, Uric Acid, Protein Marker Analysis and PAX Gene RNA Analysis<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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 | 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 |