Friedreich Ataxia, Healthy Volunteers
Conditions
Brief summary
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
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.
Interventions
DIAGNOSTIC_TESTBuccal 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
Sponsors
Clinilabs, Inc.
Larimar Therapeutics, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 50 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Examine tissue frataxin concentrations in buccal cells, blood and skin cells | 1 day | Range of tissue frataxin levels in buccal cells, blood and skin cells |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Examine specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood | 1 day | Range of specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood |
Countries
United States
Outcome results
None listed