1405933 / The Parkinson’s Pain Study
Over half of patients with Parkinson’s disease suffer from chronic pain. Despite this, there has not been much research on pain in Parkinson’s disease. The primary aim of this study is to increase our understanding of pain in Parkinson’s disease, and identify biomarkers of pain. Biomarkers are small changes in the body that can help with diagnosis, tracking the disease and explaining the disease mechanism. In this case we hope that biomarkers will explain why some patients develop pain and help direct treatment.
Our study is called the Parkinson’s Pain study. This will run alongside two separate studies: the Proband study, and the Oxford Monument Discovery Study. Both the Proband study and the Oxford Discovery Study are already running and have been given favourable ethical approval. These are two of the world’s largest ever in-depth studies of people with Parkinson’s. Between them, they are aiming to recruit almost 4000 patients with Parkinson’s disease from many centres around the UK between 2012 and 2017. All patients in the these studies will have detailed assessments of their Parkinson’s disease symptoms, as well as having blood samples taken to identify biomarkers.
The Proband study and the Oxford Discovery study are not investigating pain in Parkinson’s disease and therefore will not be able to find biomarkers of pain in Parkinson’s disease. However these studies were always meant to encourage people to add other studies onto it. We want to add a brief (20 minute) assessment of pain onto one of the Proband study and the Oxford Monument Discovery Study visits. We will be able to combine the information from our study with the other detailed assessments in these studies to help us understand pain in Parkinson’s disease. (Study due to close 02/09/2019)
1408974 / Enroll-HD
Enroll-HD is a multi-centre, multi-national, prospective observational study of Huntington’s disease (HD) in a global population. It is an open-ended study which will include as many eligible participants as are willing, who will be asked to participate in as many annual study visits as possible. The goal of Enroll-HD is to build a large and rich database of clinical information and biospecimens. These will serve as a basis for future studies aimed at developing tools and biomarkers for progression and prognosis, identifying clinically relevant phenotypic characteristics and establishing clearly defined endpoints for interventional studies.
The Enroll-HD study aims to improve the understanding of the dynamic phenotypic spectrum of HD and the underlying disease mechanisms by
-collecting natural history data covering cognitive, behavioural and motor domains which will allow estimates of rates of progression in HD and insights into the neurobiology of HD:
-collecting data and biospecimens to identify genetic and environmental factors influencing and/or modifying HD characteristics and disease progression
-promoting studies that may provide clues to the underlying disease mechanisms of HD.
Enroll-HD aims to promote the development of evidence-based guidelines to inform clinical decision making and improve health outcomes for the participant/family unit by:
-assisting in the identification of beneficial interventions
-facilitating the dissemination and implementation of currently proposed best clinical practices
-providing a platform for the conduct of outcome research
-promoting exploratory data analysis projects that may identify processes to further improve the health care of affected individuals and their families.
The Enroll-HD study aims to provide a platform to support the design and conduct of clinical trials by:
-collecting longitudinal data to inform disease modelling studies
-facilitating the identification of potential trial participants. (Study due to close 01/08/2063)
1508135 / TONIC
Quality of Life (QoL) for people with disabling neurological conditions is affected by a range of factors, which have received considerable previous research attention. However clinicians’ knowledge could be enhanced by two areas of additional enquiry.
1) Wide consultation:
a) Interviewing a range of people with the conditions (First stroke, traumatic brain injury, multiple sclerosis, neuromyelitis optica, spinal conditions, motor neurone disease) about factors influencing QoL;
b) Multi-disciplinary Panel-patients & clinicians experienced in the conditions;
c) Draft Questionnaire assessed for relevance by people with the conditions.
Our earlier work suggested the importance of QoL factors like fatigue. We will utilise suitable previously-validated Condition-specific-QoL measures. It’s possible that unvalidated or little-tested QoL factors will be suggested. If so, we will develop a new measure and test using c);
d) Focus Groups patients’ and clinicians’ opinions on QoL factors and priority factors for analysis. Such analysis would have greater validity than that used previously as it would reflect a wide range of patient and clinician opinion.
2) Testing factors for QoL-influence:
e) Self-report Questionnaire data from large Cross-Section-of people with the conditions;
f) To assess QoL over time, questionnaire participants offered the choice to volunteer to complete the Questionnaire 6 mnths, 12 mnths, and 2 yrs later.
Data would be analysed using statistical techniques to determine the nature and strength of relations between different factors.
The researchers will develop and test models of factors affecting QoL and compare whether models vary between conditions.
The model structure reflects World Health Organisation impairment, activity, and participation areas.
The benefit of this approach is that we are testing factors which reflect concerns of people experienced in the conditions to develop a model which may assist interventions to improve QoL. (Study due to close 30/11/2019)
1606261 / Detecting Susceptibility Genes for Late-Onset Alzheimer’s disease
Focused on identifying rare genetic variants of moderate to strong effect observed in the coding regions of genes. We will perform a large, powerful study in which we compare 300,000 rare DNA variants from throughout the human genome, in 20,000 AD cases and 49,000 controls. Through sample collection and collaboration we will enrich our clinical samples to include 1000 individuals with early-onset AD. This group are more likely to have rare genetic changes of moderate to large effect on their development of disease. (Study due to close 01/02/2019)
1711520 / Investigating skin metabolites as a new way to diagnose Parkinson’s disease
Investigating skin metabolites as a new way to diagnose Parkinson’s disease
1802569 / Huntington’s Disease Young Adult Study
The purpose of this research study is to find the earliest time point at which HD related changes can be found in young gene-positive adults and the earliest time at which therapeutic intervention could be given to prevent HD related changes and decline. We will do this by carrying out a number of assessments, including those measuring cognitive-emotional function, and taking an MRI of the brain to see if there are any early disease related changes. As an optional part of the study we will also collect cerebrospinal fluid (CSF) to see if there are any changes in HD CSF markers and blood samples in order to make a collection of blood products matching the CSF collection. (Study due to close 01/04/2019)
1802570 / Oxford GENFI
Frontotemporal dementia (FTD) is a common cause of young onset dementia. Its effect on people of working age with young families represents a major health and economic burden on society. The only known risk factors for FTD at present are genetic with abnormalities (mutations) in three genes accounting for the majority of familial FTD. There are now promising avenues for treatment of these disorders but we still do not know when drugs should be started or how we should measure the response to treatment.
This study investigates people with or who are at genetic risk of FTD, including people who have developed symptoms and those who have a high risk of developing symptoms in the future because they are family members of someone who carries an FTD gene. Study participants will have psychology testing, brain imaging, blood tests and spinal fluid collection (by lumbar puncture) in order to investigate the patterns of change in these different tests over time. The results will help us to understand the disease from its very earliest stages. It is expected that 80 participants will be seen in Oxford, being assessed three times in total.
The key outcomes of the study are to (1) improve understanding of how brain systems break down in genetic FTD and how this break down relates to the underlying behavioural and cognitive deficits, (2) develop markers which help identify the disease at its earliest stage, and (3) develop markers that allow the progression of the disease to be tracked. The eventual aim will be to use these markers in future clinical trials of drugs in genetic FTD. The results of this project will also lead to improvement in the recognition and diagnosis of genetic FTD as well as provide improved information about prognosis for patients and members of their family. (Study due to close 30/11/2020)