Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-08-04

Study Completion Date

2022-02-04

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).

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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.

Conditions

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Friedreich Ataxia Healthy Volunteers

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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18 to 30 years of age group

Consisting of at least 13 males and 13 females

Buccal Swabs, Blood Draws and Skin Punch Biopsy

Intervention Type 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

31 to 50 years of age group

Consisting of at least 13 males and 13 females

Buccal Swabs, Blood Draws and Skin Punch Biopsy

Intervention Type 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

Interventions

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Buccal Swabs, Blood Draws and Skin Punch Biopsy

Buccal Swabs - FXN and specific RNA markers; Blood Draws - Lipid panel, Protein Marker Analysis and Gene RNA Analysis; Skin Punch Biopsy - Protein Markers

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

1. Subject is a healthy male or female,18-50 years of age
2. Subject has a body mass index (BMI) ≥18.0 and ≤32.0 as of the screening visit.
3. Subject is racially Caucasian, Asian, Native Hawaiian, or Native American.

Exclusion Criteria

1. Subject used erythropoietin, etravirine, or gamma interferon within 3 months prior to the Day 1 (assessment) visit.
2. Subject has a chronic condition that requires ongoing prescription drug treatment.
3. Subject use of any statin medications within 3 months before the Day 1 (assessment) visit.
4. Subject use of any lipid-lowering agents, other than statins, within 6 weeks before the Day 1 (assessments) visit.
5. Subject is racially black or African American.
6. Pregnant or breast-feeding female subjects.
7. Subject has a known history of drug or alcohol abuse or current suspected drug or alcohol abuse.
8. Subject is positive for human immunodeficiency virus (HIV), hepatitis C virus (HCV), hepatitis B surface antigen (HBsAg), or hepatitis A virus (HAV).
9. 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.

Minimum Eligible Age

18 Years

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes