Clinical trial NCT05253560: Prodromal Parkinsonian Features in GBA1 Mutation Carriers
Official title: Prodromal Parkinsonian Features in GBA1 Mutation Carriers
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Gaucher Disease, Type 1
Healthy
Lead sponsor: Shaare Zedek Medical Center
Sponsor class: OTHER
First posted: 2022-02-24
Enrollment: 600
Sex: ALL
Minimum age (years): 40
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Carriers of Gaucher disease mutation Gaucher patients Healthy controls

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.

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).

Eligibility criteria: Inclusion Criteria:

* Willing to participate

Exclusion Criteria:

* PD patients
* Dementia

Primary outcomes:
measure: 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.
timeFrame: 8 Years
Secondary outcomes:
Other outcomes:
measure: Transcranial sonography (TCS)
timeFrame: 8 years
measure: Color discrimination test
timeFrame: 8 years
measure: Hyposmia by the Bit-A UPSIT smell test
timeFrame: 8 years
measure: Orthostatic hypotension (OH)
timeFrame: 8 years
measure: Montreal Cognitive Assessment (MoCA)
timeFrame: 8 years
measure: NeuroTrax computerized battery.
timeFrame: 8 years
measure: Beck Depression Inventory
timeFrame: 8 years
measure: Frontal lobe assessment battery (FAB).
timeFrame: 8 years
measure: rapid eye movement (REM)
timeFrame: 8 years
measure: Epworth sleepiness scale (ESS)
timeFrame: 8 years
measure: Perdue pegboard.
timeFrame: 8 years
measure: UPDRS part III.
timeFrame: 8 years
measure: The Timed Up and Go (iTUG).
timeFrame: 8 years
measure: Questionnaire regarding risk factors
timeFrame: 8 years
Locations:
city: Jerusalem
country: Israel
facility: Michal Becker- Cohen
state: Please Select...
Study officials:
affiliation: Shaare Zedek Medical Center
name: Ari Zimran, MD
role: PRINCIPAL_INVESTIGATOR
References: