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Parkinson's Disease in Type 1 Gaucher Disease

Icahn School of Medicine at Mount Sinai · with Michael J. Fox Foundation for Parkinson's Research, Tel-Aviv Sourasky Medical Center · NCT07886879

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 40+ · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
100
US sites recruiting
1
Study start
October 2026
Record last updated
October 21, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Conditions: Parkinson Disease (PD); Type 1 Gaucher Disease

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full 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

Recruiting US locations

  • Icahn School of Medicine at Mount Sinai

    New York, NY 10029

    Site contact: Drew Sinha, MD PhD · 513-260-5511 · drew.sinha@mssm.edu

Study contacts (from the official record)

  • Drew Sinha, MD PhD · 513-260-5511 · drew.sinha@mssm.edu
  • Rewaa Elgazzar, B.S. · 646-0761-7891 · rewaa.elgazzar@mssm.edu
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Parkinson's Disease in Type 1 Gaucher Disease (NCT07886879) | Bored Studies