Molecular and Functional Imaging in Monogenic PD.

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age25-80
SponsorUniversity of Exeter

About this trial

In this study, the investigators aim to find a biomarker of Parkinson's disease. This is done using imaging scans called Positron Emission tomography (PET), Single Photon Emission Computed Tomography (SPECT), and Magnetic Resonance Imaging (MRI). The findings will provide a deeper understanding of the brain changes in Parkinson's disease. More importantly, this study will help with the discovery and development of new medications aiming to delay progression of PD symptoms.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

All subjects must be judged by the investigator able to understand the nature, design, and procedures of the study and must be able to provide a signed and dated informed consent in accordance with Good Clinical Practice (GCP), International Conference on Harmonization (ICH), and local regulations.

All subjects must be willing and able to comply with scheduled visits, required study procedures and laboratory tests.

All subjects must be able to travel to the research sites for the study procedures.

For female subjects: They must be either of non-childbearing potential (either surgically sterile or post- menopausal - defined as 12 months of spontaneous amenorrhea), or, if of childbearing potential, subjects must demonstrate to be non-pregnant (as demonstrated by negative urine β-HCG test at screening), non-breastfeeding.

Disqualifiers

Subjects lacking capacity according to investigator judgement.

Subjects with a clinical diagnosis of dementia as determined by the investigator.

Current treatment with anticoagulants (e.g. warfarin, heparin) that might preclude safe completion of the lumbar puncture.

Condition that precludes the safe performance of routine lumbar puncture, such as prohibitive lumbar spinal disease, bleeding diathesis, or clinically significant coagulopathy or thrombocytopenia.

Trial population

A cohort of asymptomatic and symptomatic carriers of genetic mutations for familial forms of Parkinson's Disease, and previously collected data from healthy controls.

Trial design

Design model

Cohort

Time perspective

Cross-sectional

Treatments tested in this trial

  • Positron Emission Tomography (PET) scan using DASB tracer

    Other intervention

    DASB is a highly selective PET radioligand for serotonin transporter and is a reliable tool to investigate serotonin terminals and neurons. The included Magnetic Resonance Imaging (MRI) sequences serve to provide additional information plus complement PET data. To quantify dopaminergic pathology with \[123I\]FP-CIT SPECT,

Treatment groups

45 Participants
are divided into 4 treatment groups
Group A: SNCA (Alpha-synuclein gene)1 intervention
Group B: Parkin (Parkin gene)1 intervention
Group C: PINK1 (Phosphatase and Tensin Homolog (PTEN)-Induced Kinase 1 gene)1 intervention
Group D: GBA1 (Glucosylceramidase beta gene)0 interventions

Trial outcomes

Primary outcomes

1

DASB (a marker of Serotonin transporter) used to quantify in vivo pathology of serotonin

To quantify serotonergic pathology with \[11C\]3-amino-4-(2- imethylaminomethylphenylsulfanyl)-benzonitrile (DASB) Positron Emission Tomography (PET)

Time frame
3 weeks
2

SPECT to measure brain molecular pathology

To quantify serotonergic pathology with \[11C\]DASB PET and dopaminergic pathology with Single-photon Emission Computed Tomography (SPECT)

Time frame
3 weeks
3

Magnetic Resonance Imaging (MRI)

Magnetic Resonance Imaging (MRI) to view structural and microstructural changes and structural connectivity.

Time frame
3 weeks

Secondary outcomes

Other outcomes

1

Movement Disorder Society- Unified Parkinson's Disease Rating Scale (MDS-UPDRS) to determine if there is a correlation with neuropsychological and behavioural evaluation.

A rating tool used to gauge the course of Parkinson's disease in patients

Time frame
3 weeks
2

Montreal Cognitive Assessment (MOCA) to determine if there is a correlation with neuropsychological and behavioural evaluation

A cognitive screening test designed to assist in the detection of mild cognitive impairment. Scored out of 30.

Time frame
3 weeks
3

Cambridge Neuropsychological Test Automated Battery (CANTAB) to determine if there is a correlation with neuropsychological and behavioural evaluation

Administered to detect cognitive issues \& brain disorders efficiently.

Time frame
3 Weeks
4

Symbol Digit Modalities Test (SDMT) to determine if there is a correlation with neuropsychological and behavioural evaluation

To be used in screening for organic cerebral dysfunction sored out of 110

Time frame
3 Weeks

Sponsors and contacts

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