Clinical trial NCT04255680: A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
Official title: A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Friedreich Ataxia
Lead sponsor: Larimar Therapeutics, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Children's Hospital of Philadelphia
First posted: 2020-02-05
Enrollment: 20
Sex: ALL
Minimum age (years): 12
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: FRDA patients will be recruited using the Principal Investigator's (PI's) clinical practice.

Control patients will be obtained through family members or friends of affected individuals, as well as non-FRDA patients in the PI's practice.

Brief 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Difference in frataxin levels, specific RNAs and proteins
timeFrame: 1 day
Secondary outcomes:
measure: Variability in frataxin levels, specific RNAs and proteins
timeFrame: 1 day
measure: Correlation of frataxin levels, specific RNAs and proteins in FRDA patients
timeFrame: 1 day
measure: Correlation of frataxin levels, specific RNAs and proteins
timeFrame: 1 day
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: The Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Children's Hospital of Philadelphia
name: David Lynch, M.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Sacca 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.
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.