A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-01-14

Study Completion Date

2020-06-30

Brief Summary

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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.

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Detailed Description

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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

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Friedreich Ataxia

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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FRDA Subjects

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

Buccal Swabs and Blood Draws

Intervention Type DIAGNOSTIC_TEST

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

Controlled Subjects

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

Buccal Swabs and Blood Draws

Intervention Type DIAGNOSTIC_TEST

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

Interventions

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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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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.

Minimum Eligible Age

12 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No