NCT07758816Recruiting

Advancing Integrated Therapies for Gaucher Disease

Yale University

Start Date

5/6/2026

Completion Date

9/1/2030

Summary

The purpose of this study is to better understand the natural history, clinical outcomes, and biological features of Gaucher disease in patients receiving standard medical care

Detailed Description

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

Eligibility Criteria

Age Range: No minimum to 75 years

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

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Conditions

Gaucher Disease

Locations

Yale New Haven Health System

New Haven, Connecticut 06520

United States