Prodromal Parkinsonian Features in GBA1 Mutation Carriers
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease..
- Who it may be relevant to
- Registry conditions: Gaucher Disease, Type 1, Healthy. Basic parameters: 40 years — 75 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Israel
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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
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).
Interventions
- Diagnostic test The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.
Tests to help identify prodromal PD in a cohort of carriers of Gaucher disease
Primary outcome measures
- 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. [Time frame: 8 Years]
Eligibility criteria
Inclusion criteria
- Willing to participate
Exclusion criteria
- PD patients
- Dementia
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Israel · 1 center
- Michal Becker- Cohen — Jerusalem
Identifiers
NCT: NCT05253560 · SZMC-0168-17