Friedreich’s Ataxia Plasma

Friedreich’s Ataxia Plasma for Monogenic Neurodegenerative Disease Research

Friedreich’s Ataxia Plasma is collected from IRB-consented donors with a clinically confirmed diagnosis of Friedreich’s ataxia and processed within one day of collection to preserve proteins and metabolites. Plasma is an acellular matrix, so these samples are intended for analyte-level work: metabolite and lipid profiling, oxidative damage markers, and targeted or discovery proteomics.

Frataxin Deficiency and Mitochondrial Dysfunction

Friedreich’s ataxia is an autosomal recessive monogenic disorder caused by pathogenic variants in FXN, most commonly a homozygous GAA trinucleotide repeat expansion in intron 1. The expansion silences transcription and leaves cells deficient in frataxin, a mitochondrial protein required for iron-sulfur cluster biogenesis. This is a genetic mitochondrial disease, not an autoimmune or primarily inflammatory one, and the biology worth measuring in plasma follows from the protein defect.

• Frataxin deficiency impairs iron-sulfur cluster assembly, compromising respiratory chain complexes and aconitase activity and leading to mitochondrial iron mishandling.
• The downstream consequence is chronic oxidative stress and bioenergetic failure in the tissues most affected: dorsal root ganglia, spinocerebellar and corticospinal tracts, cardiac muscle and pancreatic islets.
• Plasma supports measurement of oxidative damage markers, redox-related metabolites and lipid species, plus iron-handling and metabolic analytes relevant to the underlying defect.
• Cardiomyopathy is a major cause of morbidity, so cardiac injury and cardiac stress analytes are directly relevant in this population.
• Neurofilament light chain is a reported candidate plasma marker of neuroaxonal damage in Friedreich’s ataxia cohorts and is measurable in this matrix.
• Frataxin quantification and GAA repeat sizing require a nucleated-cell source; plasma is complementary to, not a substitute for, those assays and is best used for circulating analyte and pathway readouts.

Donor Stratification Available

• Age at onset: typical childhood/adolescent onset vs late-onset presentation
• Cardiac involvement: hypertrophic cardiomyopathy or conduction abnormality where documented
• Diabetes or impaired glucose tolerance as a comorbidity
• Ambulatory status and disease stage where documented
• Scoliosis and other skeletal involvement
• Treatment status, including disease-directed therapy or treatment-naive
• Genotype confirmation and molecular diagnosis method where documented
• Matched healthy controls available

Product Features

• Research Use Only (RUO) human plasma from clinically confirmed Friedreich’s ataxia donors
• Processed within one day of collection to preserve labile analytes
• Anticoagulant and collection tube specified to your protocol where feasible
• Custom aliquot volumes available on request; volumes reported per lot
• IRB-approved protocols and documented informed consent

De-identified Donor Data

• Verified Friedreich’s ataxia diagnosis and method of confirmation
• Demographics: age, sex assigned at birth, race/ethnicity
• Age at onset, disease duration and functional status where documented
• Donor-reported medications, allergies and comorbidities
• Additional Friedreich’s ataxia-specific metadata available on request

Applications

• Oxidative stress and redox biomarker discovery and validation
• Plasma metabolomics and lipidomics in mitochondrial disease
• Iron-handling and metabolic analyte measurement
• Neuroaxonal damage marker studies, including neurofilament light
• Cardiac involvement biomarker research in a monogenic cardiomyopathy population
• Pharmacodynamic and treatment-response endpoint development for frataxin-directed and gene therapy programmes
• Discovery and targeted plasma proteomics
• Disease-specific control and comparator matrix for rare disease assay development

Other Friedreich’s Ataxia Specimen Types

• Friedreich’s Ataxia Serum
• Friedreich’s Ataxia Whole Blood
• Friedreich’s Ataxia PBMC

Compliance and Quality Assurance

• IRB-approved and HIPAA-compliant protocols
• Electronic informed consent with 21 CFR Part 11-compliant e-signatures
• Standardised collection and processing SOPs
• Documentation support available for regulatory review

Ordering & Customization

Friedreich’s Ataxia Plasma is available in standard and custom volumes. For pricing, current availability, international orders or documentation requirements, email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. To browse other disease-state options and live stock status across our plasma inventory, visit our human plasma page.