Stargardt Disease Plasma

Stargardt Disease Plasma for Inherited Retinal Dystrophy Research

Stargardt Disease Plasma is collected from IRB-consented donors with a clinically confirmed diagnosis of Stargardt disease 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 — retinoid and vitamin A pathway metabolites, lipid profiling, and discovery proteomics — and as well-characterised matched matrix for programmes that need disease-population material.

ABCA4 Deficiency and Bisretinoid Accumulation

Stargardt disease is a monogenic inherited retinal dystrophy caused by biallelic pathogenic variants in ABCA4. It is not an autoimmune disease and it is not complement-driven; framing borrowed from age-related macular degeneration does not apply here, and the mechanism is a specific transporter defect in the visual cycle.

• ABCA4 encodes an ATP-binding cassette transporter in photoreceptor outer segment disc membranes that clears N-retinylidene-phosphatidylethanolamine, an intermediate generated during the visual cycle.
• When that clearance fails, retinoid intermediates condense into bisretinoids, including A2E, which accumulate as lipofuscin in the retinal pigment epithelium.
• Lipofuscin accumulation is toxic to the RPE, and progressive RPE atrophy leads to secondary photoreceptor loss and central vision decline, typically with childhood or young adult onset.
• Because the defect sits in the retinoid cycle, plasma retinol, retinol-binding protein and related vitamin A pathway analytes are the mechanistically motivated measurements in this matrix; systemic lipid profiling is also relevant given the bisretinoid chemistry involved.
• Circulating biomarkers in Stargardt disease are genuinely limited — the pathology is confined to the retina and is assessed principally by imaging and functional testing. Plasma should be understood as a supporting matrix rather than a primary diagnostic one.
• Variant confirmation and carrier work are ordinarily performed on genomic DNA from a nucleated-cell source; circulating cell-free DNA can be recovered from plasma where that approach suits the protocol, but the nucleated-cell specimens are the more usual choice.

Donor Stratification Available

• Age at onset: childhood, adolescent, or adult-onset presentation
• ABCA4 genotype and molecular confirmation status where documented
• Visual acuity and disease stage where documented
• Extent of atrophy or flecked retina appearance on imaging where documented
• Participation in or eligibility for interventional programmes where documented
• Family history and affected sibling status where documented
• Matched healthy controls available

Product Features

• Research Use Only (RUO) human plasma from clinically confirmed Stargardt disease 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, including parental or guardian consent for paediatric donors where applicable

De-identified Donor Data

• Verified Stargardt disease diagnosis and method of confirmation
• Demographic data: age, sex assigned at birth, race/ethnicity
• Age at onset, disease duration and visual function data where documented
• Donor-reported medications, allergies and comorbidities
• Additional Stargardt disease-specific metadata available on request

Applications

• Retinoid and vitamin A pathway metabolite measurement, including retinol and retinol-binding protein
• Plasma lipidomics and metabolomics in inherited retinal dystrophy
• Discovery and targeted plasma proteomics
• Disease-population control and comparator matrix for gene therapy and gene-editing programmes targeting ABCA4
• Baseline and longitudinal sample banking for interventional studies
• Circulating cell-free DNA recovery for variant confirmation where protocol-appropriate
• Exploratory biomarker discovery in monogenic retinal degeneration
• Comparison against other inherited retinal dystrophy and macular degeneration cohorts

Other Stargardt Disease Specimen Types

• Stargardt Disease Serum
• Stargardt Disease Whole Blood
• Stargardt Disease 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

Stargardt Disease 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.