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Parkinson's Disease in Type 1 Gaucher Disease
Comprehensive Phenotyping of Type 1 Gaucher Disease Patients for Prodromal Parkinson's Disease: A Behavioral and Biomarker Study
Who can join
Ages 40 and older · All sexes · Healthy volunteers welcome
Full eligibility 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
About the study
Parkinson's disease (PD) is an age-related movement disorder with a complex pathophysiology. Among the risk factors for PD, variants in beta-glucocerebrosidase (encoded by the gene GBA1) represent one of the most significant heritable risk factors for lifetime PD risk. Biallelic variants in GBA1 cause Gaucher disease (GD), a multisystem disorder, and individuals with late/adult-onset GD1 have a \~1-in-9 lifetime risk for PD. This study aims to develop a cross-sectional cohort of clinical and laboratory phenotyped adult GD1 patients and controls for investigation of clinical/laboratory risk factors for current and future Parkinson risk. Neurological evaluations will be video and audio recorded to allow the investigators to quantify neurological function using automated tools. Data and specimens generated in this study will be incorporated into a de-identified biobank that will be used for further research into GD and PD.
Sponsor: Icahn School of Medicine at Mount Sinai · Participants: 100 · Started: Sep 21, 2026
Contact the study team
- Drew Sinha, MD PhD · Phone: 646-761-7891
- Rewaa Elgazzar, B.S. · Phone: 646-761-7891
Official record on ClinicalTrials.gov — NCT07886879
Locations in the U.S.
| New York | Icahn School of Medicine at Mount Sinai, New York |
Conditions
From ClinicalTrials.gov, data retrieved Nov 15, 2026. Each study sets its own eligibility; the study team decides who can join.