A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

Friedreich Ataxia Clinical Trial

Official title:

A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04255680
• Other study ID #: CLIN-1601-001
• Status: Completed
• Start date: January 14, 2020
• Est. completion date: June 30, 2020

Study information

• Verified date: August 2020
• Source: Larimar Therapeutics, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 20
• Est. completion date: June 30, 2020
• Est. primary completion date: June 30, 2020
• Gender: All
• Age group: 12 Years to 65 Years

Eligibility

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.

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia
• Friedreich Ataxia

Intervention

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

Locations

Country	Name	City	State
United States	The Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (2)

Lead Sponsor	Collaborator
Larimar Therapeutics, Inc.	Children's Hospital of Philadelphia

Country where clinical trial is conducted

United States, 

References & Publications (2)

Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Saccá F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526. — View Citation

Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet. 2009 Jul 1;18(13):2452-61. doi: 10.1093/hmg/ddp183. Epub 2009 Apr 17. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Difference in frataxin levels, specific RNAs and proteins	Difference in frataxin levels, specific RNAs and proteins between FRDA patients and control patients.	1 day
Secondary	Variability in frataxin levels, specific RNAs and proteins	Variability in frataxin levels, specific RNAs and proteins between FRDA patients and control patients.	1 day
Secondary	Correlation of frataxin levels, specific RNAs and proteins in FRDA patients	Correlation of frataxin levels, specific RNAs and proteins with features of FRDA in patients with FRDA.	1 day
Secondary	Correlation of frataxin levels, specific RNAs and proteins	Correlation of frataxin levels, specific RNAs and proteins with triglycerides, HDL, LDL and other lipid levels between FRDA patients and control patients.	1 day