Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease
Status: Recruiting
Location: See location...
Study Type: Observational
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
Eligibility
Participation Requirements
Sex: All
Minimum Age: 3 months
Maximum Age: 75
Healthy Volunteers: f
View:
⁃ 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
Locations
United States
Connecticut
Yale New Haven Health System
RECRUITING
New Haven
Contact Information
Primary
Pramod Yang, BS, CCRG
Ruhua.Yang@yale.edu
203-785-3412
Backup
Pramod K. Mistry, MD, PhD
pramod.mistry@yale.edu
2036057878
Time Frame
Start Date: 2026-05-06
Estimated Completion Date: 2030-09
Participants
Target number of participants: 30
Treatments
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.
Related Therapeutic Areas
Sponsors
Leads: Yale University
Collaborators: Sanofi-Yale External Research Collaboration