Genotypic Influences on Network Progression in Parkinson's Disease

Northwell Health

Status

Active, not recruiting

Conditions

Parkinson's Disease

Treatments

Radiation: FDG PET scan

Genetic: DNA/GeneticTesting

Other: MRI scan

Other: Clinical and neuropsychological assessments

Study type

Observational

Funder types

Other

Identifiers

NCT04228172

MJFF grant 16325

Details and patient eligibility

About

In this longitudinal study, the investigators will follow Parkinson's disease (PD) patients with and without glucocerebrosidase (GBA) mutations. The investigators hypothesize that the rate of increase in brain network activity over time (network progression rate) is faster in patients with GBA gene mutations.

Full description

Parkinson's disease (PD) patients with mutations in the glucocerebrosidase gene (GBA) tend to have a more aggressive disease course. GBA may therefore provide a target for disease modifying therapies in mutation carriers. Using positron emission tomography (PET) and magnetic resonance imaging (MRI) brain imaging to measure network progression rates in mutation carriers will allow for the assessment of the potential disease modifying effects of new anti-GBA therapies.

The investigators will also determine whether magnetic resonance imaging (MRI) network methods, which are less invasive and more broadly available than positron emission tomography (PET), produce comparable network progression measurements in individual patients. These determinations will be critical for the design of clinical trials of new disease-modifying drugs.

Enrollment

32 estimated patients

Sex

All

Ages

40 to 75 years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Diagnosis of PD made according to United Kingdom (UK) Parkinson's Disease Society Brain Bank Criteria
Ability to provide written informed consent
Age 40-75
Stable dose of antiparkinsonian medication for >1 month prior to study entry

Exclusion criteria

Subjects with pathogenic mutations in LRRK2 related PD mutations (subjects with variants of uncertain significance (VUS) are eligible
History of known causative factors such as encephalitis or neuroleptic treatment
Patients with dementia (defined as Mini-Mental Status Exam score <24 or a Telephone Interview for Cognitive Status score <26)
Atypical parkinsonian features including oculomotor abnormalities, incontinence, ataxia, sensory loss, or pyramidal signs
Known structural brain lesions
Patients with history of stroke, head injury, high intracranial pressure or severe headaches
Psychiatric disorder, including a history of major depression in the past 36 months
Pregnant or breastfeeding women (female subjects of child-bearing potential will be screened for pregnancy before imaging).