Prodromal Parkinsonian Features in GBA1 Mutation Carriers

Study Overview
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Brief Summary
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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.

Detailed Description
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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).

Official Title
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Prodromal Parkinsonian Features in GBA1 Mutation Carriers

Conditions
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Gaucher Disease, Type 1, Healthy

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


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Willing to participate Exclusion Criteria: PD patients Dementia

Ages Eligible for Study
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Minimum Age: 40 Years
Maximum Age: 75 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Carriers of Gaucher disease<br>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.<br>* Tests to help identify prodromal PD in a cohort of carriers of Gaucher disease<br>|
| Gaucher patients<br>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.<br>* Tests to help identify prodromal PD in a cohort of carriers of Gaucher disease<br>|
| Healthy controls<br>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.<br>* Tests to help identify prodromal PD in a cohort of carriers of Gaucher disease<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 |