Clinical trial NCT05028764: Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers
Official title: A Study to Determine the Range of Tissue Frataxin Concentrations and Other Potential Biomarkers for Friedreich's Ataxia in Normal Healthy Volunteers
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Friedreich Ataxia
Healthy Volunteers
Lead sponsor: Larimar Therapeutics, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Clinilabs, Inc.
First posted: 2021-08-31
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Maximum age (years): 50
Standard ages: ADULT
Accepts healthy volunteers: yes
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Subjects will be recruited from the community.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Examine tissue frataxin concentrations in buccal cells, blood and skin cells
timeFrame: 1 day
Secondary outcomes:
measure: Examine specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood
timeFrame: 1 day
Other outcomes:
Locations:
city: Eatontown
country: United States
facility: Clinilabs Drug Development Corporation
state: New Jersey
Study officials:
affiliation: Clinilabs, Inc.
name: Magdy Shenouda, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.