Advancing Integrated Therapies for Gaucher Disease

To define clinical trajectories, biomarkers, and mechanistic correlates of persistent or progressive disease in patients with Gaucher disease receiving standard-of-care therapy.

Type 1 Gaucher Disease (Non-Neuronopathic) (GD1)

Type 2 Gaucher Disease (Acute Neuronopathic) (GD2)

Type 3 Gaucher Disease (Chronic Neuronopathic) (GD3)

Specific Aim 1 To characterize pulmonary disease and massive lymphadenopathy in patients with neuronopathic Gaucher disease (GD2-GD3) under standard-of-care therapy.

Specific Aim 2 To define determinants of refractory skeletal disease in Gaucher disease using longitudinal clinical observation integrated with patient-derived cellular models.

Specific Aim 3 To investigate Gaucher-Parkinson overlap as a model of lipid-mediated neurodegeneration using parallel clinical and mechanistic analyses

Inclusion criteria

Aim 1

• Confirmed diagnosis of GD2 or GD3 based on genotype and phenotype
• Evidence of pulmonary infiltrative disease and/or mediastinal or mesenteric lymphadenopathy
• Receiving or eligible for standard-of-care therapy
• Age ≥ 3 months
• Ability to provide informed consent (or parental consent with assent as appropriate)

Aim2

• ages 10-75
• persistent skeletal disease despite long-term therapy

Aim3

• Gaucher disease and clinical features of Parkinson disease
• Ability to provide informed consent

Exclusion criteria

Aim 1

• Inability to comply with observational follow-up
• Any condition that, in the investigator's judgment, precludes safe participation