NCT04255680

A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 20 (actual)
• Sponsor: Larimar Therapeutics, Inc. · Industry
• Sex: All
• Age: 12 Years – 65 Years
• Healthy volunteers: —

Summary

To test the variability of specific ribonucleic acid (RNA) and proteins as well as frataxin levels in samples of blood and buccal cells taken directly from patients with Friedreich's ataxia (FRDA) in order to confirm potential new biomarkers of disease in patients with FRDA.

Detailed description

Primary Objective: The primary objective of this study is to identify whether frataxin levels and specific RNAs and proteins in blood and buccal cells differ between patients with FRDA and controls. Secondary Objective: The secondary objectives of this study are: * To understand the variability of frataxin and specific RNAs and proteins identified in buccal cells. * To correlate levels of frataxin and specific RNAs and proteins with features of FRDA. * To correlate levels of frataxin and specific RNAs and proteins with triglycerides, high density lipoprotein (HDL), low density lipoprotein (LDL) levels, and other lipids.

Conditions

• Friedreich Ataxia

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Buccal Swabs and Blood Draws	Buccal Swabs - Frataxin \& specific RNA markers Blood Draws - Lipid panel, Uric Acid, Protein Marker Analysis and PAX Gene RNA Analysis

Timeline

• Start date: 2020-01-14
• Primary completion: 2020-06-30
• Completion: 2020-06-30
• First posted: 2020-02-05
• Last updated: 2020-08-18

Locations

1 site across 1 country: United States