Determine Range of Tissue Frataxin Concentrations and Other Potential Biomarkers

NCT05028764 | Completed DMC

• 1 other identifier: CLIN-1601-002
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

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).

Conditions

Friedreich Ataxia; Healthy Volunteers

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Examine specific ribonucleic acids (RNAs), other proteins, and specialized lipids in buccal cells and blood

  1 day

Study Arms (2)

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

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

Interventions

Buccal Swabs, Blood Draws and Skin Punch Biopsy 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

18 to 30 years of age group; 31 to 50 years of age group

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Subjects will be recruited from the community.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Larimar Therapeutics, Inc.: lead
• Clinilabs, Inc.: collaborator

Study Sites (1)

Clinilabs Drug Development Corporation

Eatontown, New Jersey, 07724, United States

Location

Related Publications (1)

• 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.

  PMID: 20675166 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Buccal cells and blood

MeSH Terms

Conditions

Friedreich Ataxia

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Magdy Shenouda, M.D.

  Clinilabs, Inc.

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 25, 2021
• First Posted: August 31, 2021
• Study Start: August 4, 2021
• Primary Completion: February 4, 2022
• Study Completion: February 4, 2022
• Last Updated: February 24, 2022

Record last verified: 2022-02

Locations

US (1)