Parkinson’s Risk in Gaucher Disease Type 1
Official title: Comprehensive Phenotyping of Type 1 Gaucher Disease Patients for Prodromal Parkinson's Disease: A Behavioral and Biomarker Study
Run by Icahn School of Medicine at Mount Sinai · NCT07886879 · Data updated 2026-11-12
This study tests how Parkinson’s risk relates to GBA1-related Gaucher disease in adults over 40, by collecting detailed clinical data and samples for future research.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 40 Years and up |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Icahn School of Medicine at Mount Sinai Academic / other |
| Locations | 1 site (New York, New York) |
| Status | Recruiting |
| Started | September 21, 2026 |
| Main results expected | March 2028 |
| Study ends | March 2028 |
| Registry record updated | November 5, 2026 |
| Trial ID | NCT07886879 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal participants are adults over 40 with Gaucher disease type 1, GBA1 carriers with or without Parkinson’s symptoms, or non-carrier controls without neurological disorders and without a first-degree relative with Parkinson’s disease.
✕Probably not a fit
Individuals without GBA1-related risk factors or without Parkinson’s symptoms may not experience direct personal benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This cross-sectional study recruits adults over 40 with Gaucher disease type 1, GBA1 carriers, and controls to explore clinical and laboratory factors linked to current or future Parkinson’s risk. Neurological exams will be videotaped and audio-recorded to enable automated analysis of motor and speech features. Data and biospecimens will be de-identified and stored in a biobank for ongoing research into Gaucher disease and Parkinson’s disease. The project is led by Icahn School of Medicine at Mount Sinai with collaboration from the Michael J. Fox Foundation and Tel-Aviv Sourasky Medical Center. No interventional treatment is described; the focus is observational characterization and resource creation for future studies.
Why it matters
Potential benefit: If successful, the study could improve understanding of who is at higher risk for Parkinson’s among Gaucher disease and GBA1 variant carriers, potentially guiding monitoring or early intervention strategies.
How similar studies have gone: Previous research has shown links between GBA1 variants and Parkinson’s risk; this study adds comprehensive phenotyping and biobank data to advance that work.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Subjects with a documentation of GBA1 phenotype * Subjects older than 40 years old * Either GD1 participants with or without PD * GBA1 heterozygotes with or without PD * Non-carrier controls without neurological disorder and no first-degree family relative with PD Exclusion Criteria: • Subjects with diminished mental capacity and unable to consent for themselves
Where it's running
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Icahn School of Medicine at Mount Sinai
New York, New York, United States Recruiting
Study contacts
- Principal investigator: Drew Sinha, MD PhD — Icahn School of Medicine at Mount Sinai
- Study coordinator: Drew Sinha, MD PhD
- Email: drew.sinha@mssm.edu
- Phone: 646-761-7891
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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.