Prodromal Parkinsonian Features in GBA1 Mutation Carriers
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age40-75
SponsorShaare Zedek Medical Center
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Willing to participate
Disqualifiers
PD patients
Dementia
Trial population
Carriers of Gaucher disease mutation Gaucher patients Healthy controls
Trial design
Design model
Cohort
Time perspective
Cross-sectional
Treatments tested in this trial
The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.
Diagnostic testTests to help identify prodromal PD in a cohort of carriers of Gaucher disease
Treatment groups
600 Participants
are divided into 3 treatment groupsGroup A: Carriers of Gaucher disease1 intervention
Group B: Gaucher patients1 intervention
Group C: Healthy controls1 intervention
Trial outcomes
Primary outcomes
1
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).
Time frame
8 YearsOther outcomes
1
Transcranial sonography (TCS)
Transcranial sonography (TCS) is a useful noninvasive diagnostic tool to detect hyperechogenicity (SN+) of the substantia nigra area in the brain. The hyperechogenicity happens due to increased amounts of iron, reflecting a functional impairment.
Time frame
8 years2
Color discrimination test
Color discrimination was analyzed using The Farnsworth-Munsell 100 hue test. The test includes four boxes with a fixed number of color shade caps with slight shade differences needed to be ordered correctly. The result of each box was entered into a computerized system and automated the total error score (TES)
Time frame
8 years3
Hyposmia by the Bit-A UPSIT smell test
The shorter version of the UPSIT smell test (The University of Pennsylvania Smell Identification Test) was used to evaluate hyposmia using twelve cards, each with a different smell.
Time frame
8 years4
Orthostatic hypotension (OH)
defined as a fall of at least 20 mmHg systolic or at least ten mmHg diastolic blood pressure by 3 min of active standing or head-up tilt
Time frame
8 yearsSponsors and contacts
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Source ClinicalTrials.gov