Friedreich’s Ataxia Serum

Friedreich’s Ataxia Serum for Genetic Neurodegenerative Disease Research

Our Friedreich’s Ataxia Serum is sourced from IRB-consented donors clinically diagnosed with Friedreich’s ataxia and processed and frozen within 24 hours of collection to ensure consistency and high quality. Friedreich’s ataxia is an autosomal recessive monogenic disorder of mitochondrial iron handling, not an autoimmune condition, and serum supports measurement of the circulating neuroaxonal, cardiac, and oxidative stress markers that track its systemic consequences.

Friedreich’s Ataxia Genetics and Why Serum

• Friedreich’s ataxia is caused in the great majority of cases by biallelic GAA trinucleotide repeat expansions in intron 1 of FXN, which silence transcription through heterochromatin formation and produce partial frataxin deficiency rather than complete loss.
• Frataxin is a mitochondrial protein required for iron-sulfur cluster biogenesis. Its deficiency impairs the activity of iron-sulfur cluster-dependent enzymes in the respiratory chain and Krebs cycle, causing bioenergetic failure, mitochondrial iron accumulation, and heightened oxidative stress.
• Tissues with high metabolic demand are preferentially affected: dorsal root ganglia and spinocerebellar and corticospinal tracts produce progressive gait and limb ataxia, dysarthria, and loss of proprioception, while cardiac involvement typically takes the form of hypertrophic cardiomyopathy.
• Diabetes mellitus and impaired glucose tolerance occur in a meaningful proportion of patients, reflecting pancreatic beta-cell vulnerability to the same mitochondrial defect.
• Longer GAA repeat length correlates broadly with lower residual frataxin, earlier onset, and greater likelihood of cardiomyopathy and diabetes, making repeat size a useful stratification variable.
• Serum is acellular and is the appropriate matrix for neurofilament light chain as a neuroaxonal damage marker, cardiac markers such as high-sensitivity troponin and NT-proBNP, and oxidative stress and inflammatory mediators. Frataxin protein quantification requires the paired cellular products.

Donor Stratification Available

• GAA repeat length on each allele where genetic testing is documented, and compound heterozygous point mutation cases
• Age at symptom onset, including typical-onset versus late-onset presentations
• Disease duration and functional stage, including ambulatory versus non-ambulatory status
• Presence and severity of hypertrophic cardiomyopathy where documented
• Glycaemic status: normal, impaired glucose tolerance, or diabetes
• Treatment status, including Nrf2 pathway-directed therapy and other disease-modifying agents
• Matched healthy controls available

Product Features

• Collected from clinically confirmed Friedreich’s ataxia donors
• Processed and frozen within 24 hours of collection
• Research Use Only (RUO)
• IRB-approved protocols with documented consent
• Standard and custom aliquot volumes available

De-identified Donor Data

• Diagnosis confirmation, including genetic confirmation where available
• Age, sex assigned at birth, and ethnicity
• Donor-reported medical history and comorbidities
• Age at onset, disease duration, and cardiac and glycaemic status where documented
• Additional Friedreich’s ataxia-specific metadata available on request

Applications

• Neurofilament light chain measurement as a marker of neuroaxonal injury
• Cardiac biomarker profiling, including high-sensitivity troponin and natriuretic peptides
• Oxidative stress and lipid peroxidation marker analysis
• Untargeted serum proteomics and metabolomics of mitochondrial dysfunction
• Iron metabolism marker measurement, including ferritin, transferrin, and hepcidin
• Pharmacodynamic endpoint development for frataxin-restoring, gene therapy, and antioxidant programmes
• Progression-marker discovery for use in rare-disease natural history and trial design
• Diagnostic assay development, reference-range establishment, and platform bridging

Other Friedreich’s Ataxia Specimen Types

• Friedreich’s Ataxia Plasma
• 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
• Documentation support available for regulatory review

Ordering & Customization

Friedreich’s ataxia serum is available in standard and custom volumes. For pricing, international orders, or documentation requirements, please email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. To compare donor availability across conditions, visit our human serum page.