Disease Brief

Gaucher Disease: Subtype Analytics & Therapeutic Equity

Gaucher disease is a lysosomal storage disorder arising from biallelic pathogenic variants in the GBA1 gene. This brief covers phenotype diversity, treatment uptake, and intersectional considerations for global programs.

Prevalence

1:57K

Global birth prevalence; up to 1:850 in Ashkenazi Jewish populations

Subtype Spread

Type I (93%)

Non-neuronopathic form dominates registry submissions

Treatment Reach

62 Countries

Offering enzyme replacement or substrate reduction therapy

Genomic & Phenotypic Overview

GBA1 mutations such as N370S, L444P, and 84GG form the core variant cluster. Founder mutations across North Africa and East Asia inform personalized diagnostic algorithms.

  • • Variant interpretation integrates ClinGen curation tiers.
  • • Exome sequencing prompts include neuronopathic red flags.
  • • Plasma chitotriosidase and lyso-Gb1 trending dashboards.
Laboratory research

Treatment Landscape

Enzyme Replacement Therapy

Imiglucerase, velaglucerase alfa, and taliglucerase alfa remain standards. Comparative analyses highlight infusion burden and supply resilience.

Substrate Reduction & Beyond

Eliglustat and miglustat adoption patterns mapped against CYP2D6 metabolizer status. Gene therapy candidates (AVR-RD-02) enter phase 2 trials.

Health Equity Focus

Accessibility challenges persist for patients in Latin America, Sub-Saharan Africa, and Southeast Asia. Telehematology programs and humanitarian supply chains address diagnostic and therapeutic gaps.

  • • National newborn screening pilots in Uruguay and Morocco.
  • • Community health worker training for symptom recognition.
  • • Financial assistance models via NGO-industry partnerships.