Gaucher’s Disease Plasma
Gaucher's Disease Plasma from donors with clinically confirmed Gaucher's disease, a monogenic lysosomal storage disorder caused by GBA1 variants and deficient glucocerebrosidase activity. Suitable for measuring glucosylsphingosine (lyso-Gb1), chitotriosidase, and CCL18, plus sphingolipid profiling and treatment-response endpoint work. Matched healthy controls available.
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
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.
Protocols & Documentation
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Download
Plasma Isolation
Protocol for plasma separation from anticoagulated whole blood, including processing, storage, and traceability requirements.
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Informed Consent Form (ICF)
Available upon request — confirms donor consent for research use and downstream commercialization.
Plasma
Frequently Asked Questions
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YES – All collections are conducted under IRB-approved protocols and electronic informed consent. Sanguine utilizes Advarra and WCG IRB for oversight.
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YES – all our products are research use only (RUO).
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You can find our full product catalog here.
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Storage depends on sample type but often cryopreserved samples stored in liquid nitrogen can be stored for years.
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Extensive customization is available. To discuss your project request a quote or email us at learnmore@sanguinebio.com.
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Sanguine offers flexible prospective collection services tailored to fit your research. For more information and to request a quote, please see: our prospective biospecimen collection services page.
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Timelines depend on condition, sample type, and I/E criteria but we often start collection within 2 weeks of signed agreement.
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YES – we have in-stock inventory. You can also email us at learnmore@sanguinebio.com as we continually get new samples in our inventory.
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Each sample from a different individual – Unique donor means each sample comes from a different person, ensuring biological diversity in your study.
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YES – Unique donors can be specified and guaranteed based on your requirements.
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For information about sample quality, please see: Quality and Compliance
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YES – “IRB-approved collection protocols” and IRB approval documentation available upon request. Sanguine utilizes two internationally-recognized IRBs (Advarra and WCG IRB) for review and approval.
Ask a Question
Need a custom Plasma cohort?
Our scientific team can scope prospective collections with donor-specific I/E criteria, typically starting within 2 weeks of agreement.