Gaucher Disease: Following Patients on Standard Care to See How It Progresses
Official title: Advancing Integrated Therapies for Gaucher Disease: Neuronopathic Innovation and Combination Strategies for Refractory Skeletal Disease
Run by Yale University · NCT07758816 · Data updated 2026-11-12
This study will observe people with Gaucher disease who are receiving standard care to see how their condition changes over time and to explore the biology behind persistent or worsening disease.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 3 Months to 75 Years |
| Sex | All |
| Enrollment | 30 (estimated) |
| Sponsor | Yale University Academic / other |
| Locations | 1 site (New Haven, Connecticut) |
| Status | Recruiting |
| Started | May 6, 2026 |
| Main results expected | September 2030 |
| Study ends | September 2030 |
| Registry record updated | August 11, 2026 |
| Trial ID | NCT07758816 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal participants are individuals with GD2 or GD3 (neuronopathic Gaucher disease) receiving or eligible for standard therapy, aged at least 3 months for Aim 1 and up to 75 years for Aim 2, with persistent skeletal disease for Aim 2, and those with Parkinsonian features for Aim 3.
✕Probably not a fit
Patients whose disease progresses independently of current therapies or who do not meet the specific eligibility for each aim may not experience direct benefits.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to describe the natural history, clinical outcomes, and biomarker features of Gaucher disease in patients under standard-of-care treatment. It will track disease trajectories, collect clinical data, and use patient-derived cellular models to understand mechanisms behind skeletal and organ involvement. The study includes three aims: examining lung disease and enlarged lymph nodes in GD2/GD3, identifying factors linked to refractory skeletal disease, and exploring overlap between Gaucher disease and Parkinson-like neurodegeneration. Data will come from longitudinal observations and parallel laboratory analyses at Yale Medicine and collaborating sites.
Why it matters
Potential benefit: If successful, the study could improve understanding of how Gaucher disease progresses on standard therapy and guide future approaches to predict and manage complications.
How similar studies have gone: Prior research has shown that observational studies can identify disease trajectories and potential biomarkers in Gaucher disease, but this specific integrated approach with patient-derived cellular models is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion 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
Where it's running
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Yale New Haven Health System
New Haven, Connecticut, United States Recruiting
Study contacts
- Principal investigator: Pramod K Mistry, MD, PhD — Yale University
- Study coordinator: Pramod Yang, BS, CCRG
- Email: Ruhua.Yang@yale.edu
- Phone: 203-785-3412
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.