Gaucher’s Disease Serum

Gaucher’s Disease Serum for Lysosomal Storage Disorder Research

Our Gaucher’s Disease Serum is sourced from IRB-consented donors clinically diagnosed with Gaucher’s disease, processed and frozen within 24 hours of collection to preserve labile analytes. Serum is an acellular matrix, so these samples are intended for analyte-level work: enzyme and substrate measurement, established disease-burden markers, and targeted or discovery proteomics.

GBA1 Deficiency and Substrate Accumulation

Gaucher’s disease is an autosomal recessive lysosomal storage disorder caused by biallelic pathogenic variants in GBA1, the gene encoding the lysosomal enzyme acid beta-glucosidase (glucocerebrosidase). Reduced enzyme activity leads to accumulation of its substrate, glucosylceramide, within the lysosomes of macrophages. It is a monogenic enzyme-deficiency disease rather than an autoimmune one, and the serum analytes that matter follow directly from the enzymatic block.

• Substrate-laden macrophages, known as Gaucher cells, infiltrate the spleen, liver, bone marrow and other tissues, producing hepatosplenomegaly, thrombocytopenia, anaemia and skeletal disease.
• Glucosylsphingosine, commonly referred to as lyso-Gb1, is a deacylated substrate metabolite and one of the most specific and widely adopted circulating biomarkers of Gaucher’s disease burden.
• Chitotriosidase activity, a macrophage-derived enzyme, is a long-established surrogate marker of disease burden; interpretation requires awareness that a common CHIT1 null polymorphism leaves a subset of individuals chitotriosidase-deficient.
• CCL18/PARC serves as an alternative macrophage activation marker in chitotriosidase-deficient donors, and ferritin and angiotensin-converting enzyme are also commonly elevated.
• Clinical phenotype is conventionally divided into type 1 (non-neuronopathic), type 2 (acute neuronopathic) and type 3 (chronic neuronopathic), and phenotype-annotated serum supports subtype-resolved biomarker work.
• GBA1 variants are also among the strongest known genetic risk factors for Parkinson’s disease, which makes this donor population relevant to research programmes well beyond lysosomal storage disease itself.

Donor Stratification Available

• Clinical type: type 1 (non-neuronopathic) or type 3 (chronic neuronopathic) where documented
• Treatment status: enzyme replacement therapy, substrate reduction therapy, or treatment-naive
• Haematological involvement: thrombocytopenia or anaemia where documented
• Organomegaly: splenomegaly, hepatomegaly, or prior splenectomy
• Skeletal involvement, including bone pain, avascular necrosis or reduced bone density
• Genotype and molecular confirmation method where documented
• Matched healthy controls available

Product Features

• Research Use Only (RUO) human serum from clinically confirmed Gaucher’s disease donors
• Processed and frozen within 24 hours of collection
• Standard and custom aliquot volumes; volumes reported per lot
• Rigorous donor screening and lot-level quality checks
• IRB-approved protocols with documented informed consent

De-identified Donor Data

• Diagnosis confirmation, clinical type and method of confirmation where documented
• Age, sex assigned at birth, and ethnicity
• Donor-reported medical history, medications and comorbidities
• Haematological and biochemical laboratory values where documented
• Additional Gaucher’s disease-specific metadata available on request

Applications

• Glucosylsphingosine (lyso-Gb1) measurement and assay development
• Chitotriosidase activity assays and disease-burden marker studies
• CCL18/PARC and macrophage activation marker profiling
• Sphingolipid and substrate metabolite profiling by mass spectrometry
• Serum proteomics in lysosomal storage disease
• Pharmacodynamic endpoint development for enzyme replacement, substrate reduction and gene therapy programmes
• Comparator and control material for GBA1-related neurodegeneration research
• Rare disease diagnostic assay validation and reference material development

Other Gaucher’s Disease Specimen Types

• Gaucher’s Disease Plasma
• 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
• Standardised collection and processing SOPs
• Documentation support available for regulatory review

Ordering & Customization

Gaucher’s Disease Serum 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 serum inventory, visit our human serum page.