Advancing Integrated Therapies for Gaucher Disease
Purpose
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
Condition
- Gaucher Disease
Eligibility
- Eligible Ages
- Between 3 Months and 75 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
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
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Neuronopathic Gaucher Disease | Participants with GD2 or GD3 and documented pulmonary disease and/or massive lymphadenopathy. | |
| Refractory Skeletal Disease | Participants with GD1 or GD3, ages 10-75, with persistent skeletal disease despite long-term therapy. | |
| Gaucher-Parkinson Overlap | Adult participants only with Gaucher disease and clinical features of Parkinson disease. |
Recruiting Locations
New Haven, Connecticut 06520
More Details
- Status
- Recruiting
- Sponsor
- Yale University
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