Gaucher Disease, Type 1NCT05253560
Prodromal Parkinsonian Features in GBA1 Mutation Carriers
An observational study of Gaucher Disease, Type 1 and Healthy, run by Shaare Zedek Medical Center at 1 site in Israel.
Trial 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… Read more about this study
- Who is it for?
- Ages 40 to 75 yearsHealthy volunteers can take part
- Conditions the study is for
- Gaucher Disease, Type 1, Healthy
- What is being tested?
- The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.
- How many people
- 600 participants
- Where
- 1 siteIsrael
- Study dates
- 16 May 2017to 31 Dec 2030
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 40 to 75 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Carriers of Gaucher disease mutation Gaucher patients Healthy controls
Who may be able to join
- Willing to participate
Who cannot join
- PD patients
- Dementia
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Israel1 site, 1 recruiting
- Recruiting
Michal Becker- Cohen
Jerusalem, Please Select..., 9103102
Ari Zimran, M.D., +97226555143, azimran@gmail.com
Michal Becker- Cohen, M.Sc., +97226555143, michalbec@gmail.com
About this study
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.
Read the detailed description
The carriers, the healthy people and the Gaucher patients will undergo a number of non-invasive tests, which test the pre-Parkinson signs.
The tests are based on various sense tests, blood tests, measuring of blood pressure, lying and standing, ultra-sound of the brain and a neurological test (test of the nervous system and various questionnaires).
- Conditions
- Gaucher Disease, Type 1, Healthy
- Being tested
- The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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
| Study group | Role | What they receive |
|---|---|---|
| Carriers of Gaucher disease | Family of patients with Gaucher disease, sequenced for the GBA1 gene. Receives: 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 Receives: 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 Receives: Diagnostic Test: The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 8 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Feb 2022
- Study start16 May 2017
- Primary completion16 Jan 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher Disease, Type 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 600 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Shaare Zedek Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ari Zimran, Shaare Zedek Medical Center
- Investigators
- Ari Zimran, MD, Principal investigator, Shaare Zedek Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05253560
- Sponsor's protocol ID
- SZMC-0168-17
- Status last verified
- Apr 2026
- First submitted
- 11 Nov 2021
- Last updated
- 29 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided