Prodromal Parkinsonian Features in GBA1 Mutation Carriers

Shaare Zedek Medical Center

Status: Enrolling

Conditions: Healthy; Gaucher Disease, Type 1

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

Study type: Observational

Funder types: Other

Identifiers

NCT05253560

SZMC-0168-17

Details and patient eligibility

About

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.

Full 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).

Enrollment: 600 estimated patients

Sex: All

Ages: 40 to 75 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Willing to participate

Exclusion criteria

• PD patients
• Dementia

Trial design

600 participants in 3 patient groups

Carriers of Gaucher disease

Description:

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

Treatment:

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

Gaucher patients

Description:

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

Treatment:

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

Healthy controls

Description:

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

Treatment:

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