Gaucher’s Disease Plasma

About Gaucher’s Disease Plasma

Gaucher’s Disease Plasma for Lysosomal Storage Disorder Research

Gaucher’s Disease Plasma is collected from IRB-consented donors clinically diagnosed with Gaucher’s disease and processed within one day of collection to preserve key analytes such as sphingolipids, proteins, and metabolites. Gaucher’s disease is a monogenic lysosomal storage disorder caused by deficient enzyme activity, not an autoimmune or inflammatory condition, and plasma is the established matrix for its well-validated circulating biomarkers.

Gaucher’s Disease Biology and Why Plasma

• Gaucher’s disease is caused by biallelic pathogenic variants in GBA1, which encodes the lysosomal enzyme acid beta-glucosidase (glucocerebrosidase). Deficient enzyme activity blocks degradation of glucosylceramide.
• Undegraded substrate accumulates predominantly in macrophages of the reticuloendothelial system, producing lipid-laden Gaucher cells that infiltrate bone marrow, spleen, and liver and drive hepatosplenomegaly, thrombocytopenia, anaemia, and skeletal disease.
• Substrate-laden macrophages release characteristic markers into the circulation, giving Gaucher’s disease an unusually well-validated plasma biomarker set: chitotriosidase activity, the chemokine CCL18/PARC, and the deacylated substrate glucosylsphingosine (lyso-Gb1), which is the most disease-specific of the three.
• Clinical classification distinguishes type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (chronic neuronopathic) disease, reflecting the presence and tempo of central nervous system involvement.
• Heterozygous GBA1 variants are among the strongest known genetic risk factors for Parkinson’s disease, making Gaucher cohorts relevant to neurodegeneration research as well as to lysosomal biology.
• Plasma is acellular and suited to enzyme activity assays, immunoassay, mass spectrometry-based sphingolipid quantification, and proteomics; enzyme activity measurement in leukocytes requires the paired cellular products.

Donor Stratification Available

• Disease type: type 1 non-neuronopathic versus type 2 or type 3 neuronopathic
• GBA1 genotype where genetic testing is documented
• Treatment status: therapy-naive versus enzyme replacement therapy or substrate reduction therapy treated
• Haematological involvement: thrombocytopenia and anaemia severity where documented
• Organ involvement: hepatosplenomegaly, prior splenectomy, and skeletal disease including avascular necrosis
• Age band, ethnicity, and family history
• Matched healthy controls available

Product Features

• Research Use Only (RUO)
• Plasma collected from clinically confirmed Gaucher’s disease donors
• Processed within one day of collection
• Choice of anticoagulant on request
• IRB-approved protocols and informed consent
• Custom aliquot volumes available upon request

De-identified Donor Data

• Verified Gaucher’s disease diagnosis
• Demographic data: age, sex assigned at birth, race/ethnicity
• Donor-reported medications, allergies, and comorbidities
• Disease type, GBA1 genotype, and treatment history where documented
• Additional Gaucher’s disease-specific metadata available on request

Applications

• Quantification of established Gaucher biomarkers: glucosylsphingosine (lyso-Gb1), chitotriosidase, and CCL18/PARC
• Mass spectrometry-based sphingolipid and glycosphingolipid profiling
• Biomarker discovery and validation for disease burden and treatment response
• Pharmacodynamic endpoint development for enzyme replacement and substrate reduction therapies
• Untargeted plasma proteomics and metabolomics of lysosomal dysfunction
• Macrophage-derived chemokine and inflammatory mediator profiling
• GBA1-linked neurodegeneration research, including Parkinson’s disease risk cohorts
• Diagnostic assay development, reference-range establishment, and platform bridging for newborn and adult screening programmes

Other Gaucher’s Disease Specimen Types

• Gaucher’s Disease Serum
• Gaucher’s Disease Whole Blood
• Gaucher’s Disease 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

Gaucher’s disease plasma 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 plasma page.