A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

Larimar Therapeutics

Status: Completed

Conditions: Friedreich Ataxia

Treatments: Diagnostic Test: Buccal Swabs and Blood Draws

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT04255680

CLIN-1601-001

Details and patient eligibility

About

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.

Full 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.

Enrollment: 20 patients

Sex: All

Ages: 12 to 65 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Male and female patients with FRDA confirmed by genetic testing (FRDA subjects only).
2. Children and adults between the ages of 12 and 65 (inclusive); age for controls will be +/- 2 years relative to FRDA subjects.
3. Subject (and/or parent/legal guardian) has voluntarily signed consent form.
4. Willingness and ability to comply with all study procedures.
5. Functional Disability Stage (FDS) of 3, 4, or 5 (FRDA subjects only).

Exclusion criteria

1. Treatment with an investigational product within 30 days of study.
2. Use of gamma interferon or receiving any dose of gamma interferon within 90 days of the specimen collection day.
3. Use of any statin medications within 90 days of the specimen collection day.
4. Use of any lipid-lowering agents within 6 weeks of the specimen collection day.
5. Use of daily biotin supplementation that exceeds 30 mcg/day, either as part of a multivitamin or as a standalone supplement, within 7 days of the study visit.
6. Pregnant women.

Trial design

20 participants in 2 patient groups

FRDA Subjects

Description:

Male and female subjects with FRDA confirmed by genetic testing (aim for a 50:50 distribution of males to females)

Treatment:

Diagnostic Test: Buccal Swabs and Blood Draws

Controlled Subjects

Description:

Male and female control subjects (matched by age \[+/- 2 years\] and sex)

Treatment:

Diagnostic Test: Buccal Swabs and Blood Draws