Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers

Study Overview
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Brief Summary
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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).

Detailed Description
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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.

Official Title
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A Study to Determine the Range of Tissue Frataxin Concentrations and Other Potential Biomarkers for Friedreich's Ataxia in Normal Healthy Volunteers

Conditions
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Friedreich Ataxia, Healthy Volunteers

Intervention / Treatment
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* Diagnostic Test: Buccal Swabs, Blood Draws and Skin Punch Biopsy


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Subject is a healthy male or female,18-50 years of age Subject has a body mass index (BMI) ≥18.0 and ≤32.0 as of the screening visit. Subject is racially Caucasian, Asian, Native Hawaiian, or Native American. Exclusion Criteria: Subject used erythropoietin, etravirine, or gamma interferon within 3 months prior to the Day 1 (assessment) visit. Subject has a chronic condition that requires ongoing prescription drug treatment. Subject use of any statin medications within 3 months before the Day 1 (assessment) visit. Subject use of any lipid-lowering agents, other than statins, within 6 weeks before the Day 1 (assessments) visit. Subject is racially black or African American. Pregnant or breast-feeding female subjects. Subject has a known history of drug or alcohol abuse or current suspected drug or alcohol abuse. Subject is positive for human immunodeficiency virus (HIV), hepatitis C virus (HCV), hepatitis B surface antigen (HBsAg), or hepatitis A virus (HAV). Subject has any condition, disease, or situation, that in the opinion of the principal investigator (PI), could confound the results of the study or put the subject at undue risk, making participation inadvisable.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 50 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| 18 to 30 years of age group<br>Consisting of at least 13 males and 13 females | Diagnostic Test: Buccal Swabs, Blood Draws and Skin Punch Biopsy<br>* Buccal Swabs - FXN and specific RNA markers; Blood Draws - Lipid panel, Protein Marker Analysis and Gene RNA Analysis; Skin Punch Biopsy - Protein Markers<br>|
| 31 to 50 years of age group<br>Consisting of at least 13 males and 13 females | Diagnostic Test: Buccal Swabs, Blood Draws and Skin Punch Biopsy<br>* Buccal Swabs - FXN and specific RNA markers; Blood Draws - Lipid panel, Protein Marker Analysis and Gene RNA Analysis; Skin Punch Biopsy - Protein Markers<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | 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 | 

Secondary Outcome Measures

| Outcome Measure | 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 |