A Study to Assess Variation in Potential Biomarkers in Friedreich Ataxia

NCT04255680 | Completed

• 1 other identifier: CLIN-1601-001
• Study Type: observational
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

Friedreich Ataxia

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (3)

• Variability in frataxin levels, specific RNAs and proteins

  1 day

• Correlation of frataxin levels, specific RNAs and proteins in FRDA patients

  1 day

• Correlation of frataxin levels, specific RNAs and proteins

  1 day

Study Arms (2)

FRDA Subjects

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

Diagnostic Test: Buccal Swabs and Blood Draws

Controlled Subjects

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

Diagnostic Test: Buccal Swabs and Blood Draws

Interventions

Buccal Swabs and Blood Draws DIAGNOSTIC_TEST

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

Controlled Subjects; FRDA Subjects

Eligibility Criteria

• Age: 12 Years - 65 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• Treatment with an investigational product within 30 days of study.
• Use of gamma interferon or receiving any dose of gamma interferon within 90 days of the specimen collection day.
• Use of any statin medications within 90 days of the specimen collection day.
• Use of any lipid-lowering agents within 6 weeks of the specimen collection day.
• 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.
• Pregnant women.

Sponsors & Collaborators

• Larimar Therapeutics, Inc.: lead
• Children's Hospital of Philadelphia: collaborator

Study Sites (1)

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Related Publications (2)

• 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.

  PMID: 22162061 BACKGROUND

• 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.

  PMID: 19376812 BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma, Buccal Cell and PAX Gene Blood Samples for RNA

MeSH Terms

Conditions

Friedreich Ataxia

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• David Lynch, M.D.

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 3, 2020
• First Posted: February 5, 2020
• Study Start: January 14, 2020
• Primary Completion: June 30, 2020
• Study Completion: June 30, 2020
• Last Updated: August 18, 2020

Record last verified: 2020-08

Locations

US (1)