A Study Into the Underlying Biochemical Pathways Involved in Parkinson's Disease, Such as Mitochondrial (Cellular "Powerhouse") Dysfunction

NCT03421899 | Completed

• 1 other identifier: 17/0126
• Study Type: observational
• Target: 160
• Locations: 1 country
• Sites: 1

Brief Summary

Parkinson's disease (PD) is a progressive neurological disorder that is increasingly common with age, with the incidence rising from approximately 4 people per 10,000 in their forties to 2 in 100 over the age of eighty. Our understanding of the causes of PD has rapidly developed in the past two decades, but this has not yet translated into any clinically established neuroprotective treatment that slows disease progression. There is a growing consensus that the failure of previous efforts is mainly due to the causative diversity of PD i.e. that PD may have many different causes. For example, it is known that variants in mitochondrial (cellular power house) genes can cause specific forms of PD and this may be relevant to other forms of PD. The aim of this study is to attempt to group PD patients based on markers of biochemical dysfunction (e.g. into groups of patients that do and those who do not have evidence of mitochondrial dysfunction) to aid in the development of new candidate neuro-protective compounds. The investigators hope by grouping people with Parkinson's into those with and without impaired mitochondrial function the investigators will be better able to develop more targeted treatments aimed at protecting further loss of brain cells that occurs in Parkinson's disease. To achieve this the investigators will study people, in two study sites in London, with both genetic forms of PD and those with idiopathic PD (i.e. those where there is not a known genetic variant causing PD), as well as a healthy control group. All groups will undergo standardised clinical assessment to collect information on several aspects of their condition (e.g. disease severity, memory problems and sleep problems). Participants will be asked to provide blood, urine and optionally cerebrospinal fluid \& skin samples from which various biochemical assays and genetic analysis will be performed in attempt to group participants based on the results of these tests. The study is funded for 3 years with participants being asked to attend for up to 3 study visits each over this time period.

Conditions

Parkinson Disease; Parkinsonism

Keywords

Mitochondria; Mitochondrial dysfunction; Parkin; PINK1

Outcome Measures

Primary Outcomes (1)

• Definition of a reproducible biochemical method of grouping people with Parkinson's based on defined biochemical dysfunction

  The study will primarily aim to stratify patients by the degree of mitochondrial dysfunction detected by a battery of functional assays.

  3 years

Study Arms (3)

Genetic Parkinson's group

Those participants with Parkinson's disease and a genetic mutation known to cause or increase risk of Parkinson's disease (e.g. Parkin, PINK1, GBA or LRRK2)

Idiopathic Parkinson's group

Those participants with Parkinson's disease but without a known genetic mutation known to cause or increase risk of Parkinson's disease

Healthy control group

Those participants unaffected by Parkinson's disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The study population will comprise of people with PD (those with and without know genetic mutations associated with PD) as well as an age matched control population.

You may qualify if:

• Diagnosed with PD, or a related condition (e.g. Parkinson's plus, dystonia, tremor) or healthy control participant
• Age 18 years or over

You may not qualify if:

• \. Lack of capacity to consent to participate in the project

Sponsors & Collaborators

• University College, London: lead
• European Commission: collaborator
• University of Luxembourg: collaborator
• University of Luebeck: collaborator
• Leiden University Medical Center: collaborator

Study Sites (1)

UCL Institute of Neurology, Department of Clinical Neurosciences, Upper 3rd Floor, Royal Free Hospital, Rowland Hill Street

London, NW3 2PF, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood (DNA and RNA), plasma, serum, urine, cerebrospinal fluid (CSF), skin (as fibroblast cell lines) and fat (as adipose stem cell lines)

MeSH Terms

Conditions

Parkinson Disease; Parkinsonian Disorders; Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Tony Schapira

  UCL Institute of Neurology

  PRINCIPAL INVESTIGATOR

• Huw Morris

  UCL Institute of Neurology

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 23, 2017
• First Posted: February 5, 2018
• Study Start: August 18, 2017
• Primary Completion: April 1, 2020
• Study Completion: April 1, 2020
• Last Updated: May 23, 2023

Record last verified: 2023-05

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)