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Advancing Integrated Therapies for Gaucher Disease
RecruitingObservational study
Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease
Who can join
3 Months – 75 Years · All sexes
Full eligibility criteria
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
About the study
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
Sponsor: Yale University · Participants: 30 · Started: May 6, 2026
Contact the study team
- Pramod Yang, BS, CCRG · Phone: 203-785-3412
- Pramod K. Mistry, MD, PhD · Phone: 2036057878
Official record on ClinicalTrials.gov — NCT07758816
Locations in the U.S.
| Connecticut | Yale New Haven Health System, New Haven |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.