Recruiting

Observational Study

Sponsor:

Icahn School of Medicine at Mount Sinai

Code:

NCT07886879

Conditions

Parkinson Disease (PD)

Type 1 Gaucher Disease

Eligibility Criteria

Sex: All

Age: 40+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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

Study ID

NCT07886879

Start date

Oct, 2026

Status verified date

Oct, 2026

Completion date

Mar, 2028

Anticipated

Primary completion date

Mar, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 40+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Arms

GD1 Patients

80 GD1 patients (with or without PD) from Mount Sinai health system and partnering Gaucher Disease treatment programs.

GBA1 Heterozygotes

10 GBA1 heterozygote individuals, preferably relatives of GD1 patients.

Neurologically Healthy Non-GBA1-Carriers

10 non-carriers for GBA1 without neurological disorder and no first degree family relative with PD.

Primary outcome measure

  • Movement Disorder Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Parts I, II, and IV [ Time Frame: Day 1 ]
  • REM Behavioral Disorder Screening Questionnaire (RBDSQ) [ Time Frame: Day 1 ]
  • Montreal Cognitive Assessment (MoCA) [ Time Frame: Day 1 ]
  • Scales for Outcomes in Parkinson's Disease - Autonomic Dysfunction (SCOPA-AUT) [ Time Frame: Day 1 ]
  • University of Pennsylvania Smell Identification Test (UPSIT) [ Time Frame: Day 1 ]
  • Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III [ Time Frame: Day 1 ]

Central Contacts and Locations

Central contacts

Drew Sinha, MD PhD

513-260-5511drew.sinha@mssm.edu

Rewaa Elgazzar, B.S.

646-0761-7891rewaa.elgazzar@mssm.edu

Locations

Icahn School of Medicine at Mount Sinai

Recruiting

New York, New York, United States, 10029

Contacts

Drew Sinha, MD PhD

513-260-5511drew.sinha@mssm.edu

Rewaa Elgazzar, B.S.

646-761-7891rewaa.elgazzar@mssm.edu

Principal Investigator:

Drew Sinha

More Information

Sponsor

Icahn School of Medicine at Mount Sinai

Last update posted

Oct 21, 2026

Last verified

Oct, 2026

Keywords

  • Parkinson's Disease
  • Gaucher Disease
  • Deep Phenotyping
  • GBA1

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-22. This information was provided to ClinicalTrials.gov by Icahn School of Medicine at Mount Sinai on 2026-10-21. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.