Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers

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

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).

Study Overview

• Status: Completed
• Conditions: Healthy Volunteers; Friedreich Ataxia
• Intervention / Treatment: Diagnostic test: Buccal Swabs, Blood Draws and Skin Punch Biopsy

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.

• Study Type: Observational
• Enrollment (Actual): 60

Contacts and Locations

Study Locations

• United States
  • New Jersey
    • Eatontown, New Jersey, United States, 07724
      • Clinilabs Drug Development Corporation

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 50 years (Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Subjects will be recruited from the community.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
18 to 30 years of age group; Consisting of at least 13 males and 13 females	Diagnostic test: 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
31 to 50 years of age group; Consisting of at least 13 males and 13 females	Diagnostic test: 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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Larimar Therapeutics, Inc.
• Collaborators: Clinilabs, Inc.
• Investigators: Principal Investigator: Magdy Shenouda, M.D., Clinilabs, Inc.

Publications and helpful links

General Publications

• Deutsch EC, Santani AB, Perlman SL, Farmer JM, Stolle CA, Marusich MF, Lynch DR. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab. 2010 Oct-Nov;101(2-3):238-45. doi: 10.1016/j.ymgme.2010.07.001. Epub 2010 Jul 8.

Study record dates

Study Major Dates

• Study Start (Actual): August 4, 2021
• Primary Completion (Actual): February 4, 2022
• Study Completion (Actual): February 4, 2022

Study Registration Dates

• First Submitted: August 25, 2021
• First Submitted That Met QC Criteria: August 25, 2021
• First Posted (Actual): August 31, 2021

Study Record Updates

• Last Update Posted (Actual): February 24, 2022
• Last Update Submitted That Met QC Criteria: February 22, 2022
• Last Verified: February 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neurodegenerative Diseases; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Mitochondrial Diseases; Cerebellar Diseases; Spinocerebellar Degenerations; Ataxia; Friedreich Ataxia
• Other Study ID Numbers: CLIN-1601-002

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No