NCT05253560

Brief Summary

Objective of the trial. To define a sub-population which is at increased risk of developing Parkinson, beyond the fact of carrying Gaucher; in this sub-population the investigators shall conduct a comprehensive evaluation that includes a variety of non-invasive tests, whose purpose is to evaluate the state of the pre- Parkinson's disease signs, signs which can appear, even twenty years before the appearance of the disease, and also to compare them to a group of diagnosed Gaucher patients and a group of healthy people who are not carriers of Gaucher disease. A group of those carriers will be available for trial or for treatment, if there will be a medicine for the prevention of the development of Parkinson, obtainable.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
600

participants targeted

Target at P75+ for all trials

Timeline
57mo left

Started May 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress66%
May 2017Dec 2030

Study Start

First participant enrolled

May 16, 2017

Completed
4.5 years until next milestone

First Submitted

Initial submission to the registry

November 11, 2021

Completed
4 months until next milestone

First Posted

Study publicly available on registry

February 24, 2022

Completed
7.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 16, 2030

Expected
12 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2030

Last Updated

April 29, 2026

Status Verified

April 1, 2026

Enrollment Period

12.7 years

First QC Date

November 11, 2021

Last Update Submit

April 23, 2026

Conditions

Gaucher Disease, Type 1Healthy

Outcome Measures

Primary Outcomes (1)

  • Building a model to identify carriers of Gaucher disease prone to Parkinson's disease, using tests to assess different domains of PD, including anatomy, cognitive and mental, sleep disorder, and motor.

    Carriers of a variant in the GBA1 gene (GBA carriers) are at the highest risk of developing Parkinson disease (PD). A screening study for prodromal PD features in a cohort of obligatory GBA carriers between 40-75 years was initiated to identify candidates for a PD prevention trial. We added healthy controls and GD patients in order to determine the incidence of prodromal PD and for analyzing the differences between the two groups helping to build a model for identifying at risk PD at the prodromal stage. Participants preform 15 pre-defined non-invasive tests for prodromal PD and assessment of risk factors. Risk factors for PD included age, sex, type of GBA1 variant, coffee and tea caffeine consumption, smoking habits, exposure to solvents and pesticides, and family history of PD (1st and/or 2nd degree relatives with PD).

    8 Years

Other Outcomes (14)

  • Transcranial sonography (TCS)

    8 years

  • Color discrimination test

    8 years

  • Hyposmia by the Bit-A UPSIT smell test

    8 years

  • +11 more other outcomes

Study Arms (3)

Carriers of Gaucher disease

Family of patients with Gaucher disease, sequenced for the GBA1 gene.

Diagnostic Test: The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.

Gaucher patients

Patients from the Gaucher clinic in Shaare Zedek Medical Center, Jerusalem, Israel

Diagnostic Test: The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.

Healthy controls

Family members of Gaucher patients who are not carriers of Gaucher disease

Diagnostic Test: The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.

Interventions

The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.DIAGNOSTIC_TEST

Tests to help identify prodromal PD in a cohort of carriers of Gaucher disease

Carriers of Gaucher diseaseGaucher patientsHealthy controls

Eligibility Criteria

Age40 Years - 75 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Carriers of Gaucher disease mutation Gaucher patients Healthy controls

You may qualify if:

  • Willing to participate

You may not qualify if:

  • PD patients
  • Dementia

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Michal Becker- Cohen

Jerusalem, Please Select..., 9103102, Israel

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample for DNA sequencing and biomarker analysis

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Study Officials

  • Ari Zimran, MD

    Shaare Zedek Medical Center

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Ari Zimran, MD

CONTACT

+972-509149149azimran@gmail.com

Michal Becker- Cohen, M.Sc.

CONTACT

+972-504606310michalbec@gmail.com

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Prof.

Study Record Dates

First Submitted

November 11, 2021

First Posted

February 24, 2022

Study Start

May 16, 2017

Primary Completion (Estimated)

January 16, 2030

Study Completion (Estimated)

December 31, 2030

Last Updated

April 29, 2026

Record last verified: 2026-04

Locations

IL(1)