A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
NCT04255680 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20
Last updated 2020-08-18
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.
Conditions
- Friedreich Ataxia
Interventions
- 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
Sponsors & Collaborators
-
Children's Hospital of Philadelphia
collaborator OTHER -
Larimar Therapeutics, Inc.
lead INDUSTRY
Principal Investigators
-
David Lynch, M.D. · Children's Hospital of Philadelphia
Eligibility
- Min Age
- 12 Years
- Max Age
- 65 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2020-01-14
- Primary Completion
- 2020-06-30
- Completion
- 2020-06-30
Countries
- United States
Study Locations
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