Observing Gaucher Disease Patients Receiving Standard Care
Studies how Gaucher disease develops in people receiving usual medical care.
Plain-language title generated from the registry record
Registry title: Advancing Integrated Therapies for Gaucher Disease
Key facts
- Where
- New Haven, United StatesSee the site
Where in United States
- Yale-New Haven Health SystemNew Haven, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Yale University
- Trial code
- NCT07758816
- Record updated
- 11 August 2026
- Original description
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 careRead full original descriptionShow less
Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease
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
Inclusion: 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: Any condition that, in the investigator's judgment, precludes safe participation; Aim 1; Inability to comply with observational follow-up.