Developing an evidence base for trials in genetic frontotemporal dementia - measures of disease onset and progression
Lead Research Organisation:
University College London
Department Name: Institute of Neurology
Abstract
Frontotemporal dementia (FTD) is a common cause of young onset dementia. The only known risk factors for FTD at present are genetic with three genes accounting for the majority of familial FTD, called progranulin, tau and chromosome 9 open reading frame 72. 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 plans to investigate people who have genetic FTD, including both people who have developed symptoms and also people who have a risk of developing symptoms in the future because they carry the abnormal genetic mutation. This allows a window into the earliest changes in the disease process. 30 study subjects from families with genetic FTD will have psychology testing, brain imaging, blood tests and spinal fluid collection annually at three time-points in order to investigate the patterns of change in these different tests at different stages of the disorder. Brain imaging will include not only magnetic resonance imaging but also the novel technique of tau positron emission tomography which may be able to identify the presence of tau pathology in the brains of people with tau mutations for the first time during life. The study subjects will be part of a larger multicentre study called the Genetic Frontotemporal dementia Initiative (GENFI) and data will be available for analysis from over 300 subjects who take part in that initiative. The key outcomes of the study will be to develop markers which help identify the disease at its earliest stage as well as markers that allow the progression of the disease to be tracked. These markers can then be used in future clinical trials of drugs in genetic FTD.
Technical Summary
Frontotemporal dementia (FTD) is a common cause of young onset dementia, approximately equal in frequency to Alzheimer's disease in people below the age of 65. Its effect particularly on people of working age with young families represents a major health and economic burden on society. The only known risk factors for FTD are genetic, and around a third of FTD is familial. The aim of the study is to understand the ordering and temporal evolution of imaging and fluid biomarker change in genetic FTD and their clinical associations, forming an evidence base for future clinical trials. In particular, through comprehensive longitudinal phenotyping, the key objectives are to: characterise the earliest neuropsychological and behavioural changes; identify the earliest anatomical changes that occur and how these change over time; evaluate how measures of structural and functional connectivity change over time; examine the role of tau PET imaging as a marker of tau pathology; and correlate changes in CSF and serum markers with changes in neuroimaging. The experimental plan uses cross-sectional and longitudinal measures of behaviour, cognition, neuroimaging and both CSF and serum markers to elucidate the patterns of biomarker change in genetic FTD with the overarching hypothesis being that biomarkers can aid in the identification of disease and tracking of disease progression. The study aims to be the foundation for clinical trials in genetic FTD with the key outcomes being identification of markers of disease onset including those including those indicative of optimal time to start disease-modifying therapy and markers of disease progression that can be used as outcome measures in clinical trials, as well as estimations of the sample sizes necessary for those trials.
Planned Impact
The outcomes of this study will lead to improvement in the recognition and diagnosis of genetic FTD as well as provide improved prognostic information for patients and members of their family in the first instance. This will be important to clinicians and policymakers in that it will allow a better representation of the incidence of genetic FTD in the UK. This study in combination with GENFI will provide a platform for clinical trials in genetic FTD, likely to occur in the next five years: finding a disease-modifying therapy in this disorder will be hugely beneficial both for the patient and their families at risk of the disorder, as well as improving the nation's health and wealth by altering a disease process that affects people generally of working age. Based on the current understanding of the pathophysiology of the disease, it is probable that effective interventions for genetic FTD due to progranulin mutations will become available either by repurposing or from novel agents. Rapid evaluation will support the G8 declaration of a treatment for dementia by 2025. This would have significant UK political benefit building on the UK lead internationally in the G8 dementia summit.
The outcomes of this study in terms of biomarkers of disease onset and progression will feed into pharmaceutical industry-led studies, providing the knowledge required to identify the primary and secondary outcomes used in clinical trials and the timing of when the trials should take place.
The outcomes of this study in terms of biomarkers of disease onset and progression will feed into pharmaceutical industry-led studies, providing the knowledge required to identify the primary and secondary outcomes used in clinical trials and the timing of when the trials should take place.
Organisations
- University College London (Fellow, Lead Research Organisation)
- University of Milan (Collaboration)
- University of Coimbra (Collaboration)
- Karolinska Institute (Collaboration)
- University of California, San Francisco (Collaboration)
- August Pi i Sunyer Biomedical Research Institute (Collaboration)
- University of Laval (Collaboration)
- University of Limoges (Collaboration)
- Brescia Fatebenefratelli (Collaboration)
- University of Rouen (Collaboration)
- Ludwig Maximilian University of Munich (LMU Munich) (Collaboration)
- Carlo Besta Neurological Institute (Collaboration)
- University of Florence (Collaboration)
- University Hospital Donostia (Collaboration)
- University of Manchester (Collaboration)
- University of Lisbon (Collaboration)
- Erasmus MC (Collaboration)
- University of Brescia (Collaboration)
- UNIVERSITY OF CAMBRIDGE (Collaboration)
- McGill University (Collaboration)
- UNIVERSITY OF OXFORD (Collaboration)
- Western University (Collaboration)
- UZ Leuven, Belgium (Collaboration)
- Pitié-Salpêtrière Hospital (Collaboration)
- University of Lille (Collaboration)
- University of Ulm (Collaboration)
- University of Toronto (Collaboration)
- University Hospital Tuebingen (Collaboration)
People |
ORCID iD |
| Jonathan Daniel Rohrer (Principal Investigator / Fellow) |
Publications
Hardy CJD
(2018)
Retained capacity for perceptual learning of degraded speech in primary progressive aphasia and Alzheimer's disease.
in Alzheimer's research & therapy
Lashley T
(2015)
Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations.
in Neuropathology and applied neurobiology
Convery R
(2019)
Review: Clinical, genetic and neuroimaging features of frontotemporal dementia.
in Neuropathology and applied neurobiology
Zetterberg H
(2019)
Review: Fluid biomarkers for frontotemporal dementias.
in Neuropathology and applied neurobiology
Foiani MS
(2019)
Searching for novel cerebrospinal fluid biomarkers of tau pathology in frontotemporal dementia: an elusive quest.
in Journal of neurology, neurosurgery, and psychiatry
Bocchetta M
(2019)
Segmentation of medial temporal subregions reveals early right-sided involvement in semantic variant PPA.
in Alzheimer's research & therapy
Hardy CJD
(2018)
Sensitivity of Speech Output to Delayed Auditory Feedback in Primary Progressive Aphasias.
in Frontiers in neurology
Van Der Ende EL
(2019)
Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study.
in The Lancet. Neurology
Rohrer JD
(2016)
Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia.
in Neurology
Sani T
(2019)
Sleep symptoms in syndromes of frontotemporal dementia and Alzheimer's disease: A proof-of-principle behavioural study
in eNeurologicalSci
Barbier M
(2021)
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.
in Brain : a journal of neurology
Rollinson S
(2015)
Small deletion in C9orf72 hides a proportion of expansion carriers in FTLD.
in Neurobiology of aging
Russell LL
(2020)
Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort.
in Cortex; a journal devoted to the study of the nervous system and behavior
Tookey SA
(2021)
Specific support needs and experiences of carers of people with frontotemporal dementia: A systematic review.
in Dementia (London, England)
Volkmer A
(2020)
Speech and language therapy approaches to managing primary progressive aphasia.
in Practical neurology
Wilke C
(2022)
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study.
in Annals of neurology
Gazzina S
(2022)
Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia.
in Neurobiology of aging
Ahmed RM
(2021)
Tackling clinical heterogeneity across the amyotrophic lateral sclerosis-frontotemporal dementia spectrum using a transdiagnostic approach.
in Brain communications
Whiteside DJ
(2023)
Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia.
in Alzheimer's & dementia : the journal of the Alzheimer's Association
Staffaroni AM
(2022)
Temporal order of clinical and biomarker changes in familial frontotemporal dementia.
in Nature medicine
Clark CN
(2015)
Temporal Variant Frontotemporal Dementia is Associated with Globular Glial Tauopathy.
in Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology
Bocchetta M
(2022)
Thalamic and Cerebellar Regional Involvement across the ALS-FTD Spectrum and the Effect of C9orf72.
in Brain sciences
Bocchetta M
(2018)
Thalamic atrophy in frontotemporal dementia - Not just a C9orf72 problem.
in NeuroImage. Clinical
Bocchetta M
(2020)
Thalamic nuclei in frontotemporal dementia: Mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to C9orf72.
in Human brain mapping
Jiskoot LC
(2023)
The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study.
in Journal of the neurological sciences
Nelson A
(2022)
The CBI-R detects early behavioural impairment in genetic frontotemporal dementia.
in Annals of clinical and translational neurology
Woollacott IO
(2016)
The clinical spectrum of sporadic and familial forms of frontotemporal dementia.
in Journal of neurochemistry
Koriath CA
(2017)
The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.
in Alzheimer's & dementia (Amsterdam, Netherlands)
Rohrer JD
(2021)
The Frontotemporal Dementia Prevention Initiative: Linking Together Genetic Frontotemporal Dementia Cohort Studies.
in Advances in experimental medicine and biology
Marshall CR
(2019)
The functional neuroanatomy of emotion processing in frontotemporal dementias.
in Brain : a journal of neurology
Bocchetta M
(2016)
The habenula: an under-recognised area of importance in frontotemporal dementia?
in Journal of neurology, neurosurgery, and psychiatry
Premi E
(2019)
The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint.
in NeuroImage
Hardy CJ
(2016)
The Language Profile of Behavioral Variant Frontotemporal Dementia.
in Journal of Alzheimer's disease : JAD
Belder CRS
(2022)
The problematic syndrome of right temporal lobe atrophy: Unweaving the phenotypic rainbow.
in Frontiers in neurology
Franklin H
(2021)
The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort
in Alzheimer's Research & Therapy
Zetterberg H
(2023)
The role of neurofilament light in genetic frontotemporal lobar degeneration.
in Brain communications
Harding SR
(2017)
The TMEM106B risk allele is associated with lower cortical volumes in a clinically diagnosed frontotemporal dementia cohort.
in Journal of neurology, neurosurgery, and psychiatry
Desmarais P
(2019)
Therapeutic trial design for frontotemporal dementia and related disorders.
in Journal of neurology, neurosurgery, and psychiatry
Shafei R
(2020)
Two pathologically confirmed cases of novel mutations in the MAPT gene causing frontotemporal dementia.
in Neurobiology of aging
Young AL
(2018)
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference.
in Nature communications
Swift IJ
(2021)
Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature.
in Neurobiology of aging
Tavares T
(2019)
Ventricular volume expansion in presymptomatic genetic frontotemporal dementia
in Neurology
Sudre CH
(2019)
White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study.
in NeuroImage. Clinical
| Title | GENFI XNAT database |
| Description | Database of biomarker data from the GENFI 1 and GENFI 2 projects (presymptomatic and early symptomatic genetic FTD). |
| Type Of Material | Database/Collection of data |
| Year Produced | 2014 |
| Provided To Others? | Yes |
| Impact | 30 current analyses ongoing across multiple centres within GENFI. |
| Description | Frontotemporal dementia Prevention Initiative - FPI |
| Organisation | University of California, San Francisco |
| Department | Memory and Ageing Centre UCSF |
| Country | United States |
| Sector | Academic/University |
| PI Contribution | This is a collaboration of the GENFI study led by me with other international studies - ARTFL/LEFFTDS in the US and DINAD in Australia. I jointly lead the initiative |
| Collaborator Contribution | The PIs of the studies jointly run this collaboration - we have developed shared guidelines for academic-pharma partnerships for future clinical trials in FTD as well as a shared dataset. |
| Impact | The collaboration has developed guidelines for academic-pharma partnerships which will be used in upcoming trials. |
| Start Year | 2017 |
| Description | GENFI2 |
| Organisation | August Pi i Sunyer Biomedical Research Institute |
| Department | Hospital Clinic of Barcelona |
| Country | Spain |
| Sector | Hospitals |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | Brescia Fatebenefratelli |
| Country | Italy |
| Sector | Hospitals |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | Carlo Besta Neurological Institute |
| Country | Italy |
| Sector | Public |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | Erasmus MC |
| Country | Netherlands |
| Sector | Hospitals |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | Karolinska Institute |
| Country | Sweden |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | Ludwig Maximilian University of Munich (LMU Munich) |
| Department | University Clinic of Munich |
| Country | Germany |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | McGill University |
| Country | Canada |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | Pitié-Salpêtrière Hospital |
| Country | France |
| Sector | Hospitals |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | UZ Leuven, Belgium |
| Country | Belgium |
| Sector | Hospitals |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University Hospital Donostia |
| Country | Spain |
| Sector | Hospitals |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University Hospital Tuebingen |
| Country | Germany |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Brescia |
| Country | Italy |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Cambridge |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Coimbra |
| Country | Portugal |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Florence |
| Country | Italy |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Laval |
| Country | Canada |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Lille |
| Country | France |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Limoges |
| Country | France |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Lisbon |
| Country | Portugal |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Manchester |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Milan |
| Country | Italy |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Oxford |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Rouen |
| Country | France |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Toronto |
| Country | Canada |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | University of Ulm |
| Country | Germany |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | GENFI2 |
| Organisation | Western University |
| Country | Canada |
| Sector | Academic/University |
| PI Contribution | I have led this multicentre international biomarkers study of genetic frontotemporal dementia, which has been co-ordinated from UCL. |
| Collaborator Contribution | Partners are recruiting sites within the study. |
| Impact | Publications - Lancet Neurology 2015; Annals of Clinical and Translational Neurology 2016; Presentations - International Conference on FTD 2014; International Conference on FTD 2016 |
| Start Year | 2015 |
| Description | Annual FTD support group seminar 2016 |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | Seminar chaired by Jonathan Rohrer (supervisor) with talk by Elizabeth Gordon (PhD studentship) about her PhD work. |
| Year(s) Of Engagement Activity | 2016 |
| Description | British Science Festival |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | Talk on young onset dementia and presymptomatic neurodegenerative disease highlighting the work of the GENFI project as part of the national British Science Festival - around 70 people attended with both a panel discussion and personal questions afterwards. |
| Year(s) Of Engagement Activity | 2015 |
| URL | https://thelittleboxoffice.com/bsa/event/view/26635 |
| Description | Contribution to online learning module about dementia (MOOC) |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Public/other audiences |
| Results and Impact | Videoed talk and written information provided for an online learning tool about dementia - highlighting my research and work on GENFI project. Over 10,000 people currently signed up for course (official start March 2016). |
| Year(s) Of Engagement Activity | 2016 |
| URL | https://www.futurelearn.com/courses/faces-of-dementia |
| Description | FTD support group meeting |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | ~70 people attended, mainly carers but also professionals, to hear about the latest research, with a question and answer session afterwards including discussion of patient involvement in future study design. |
| Year(s) Of Engagement Activity | 2018 |
| Description | FTD talk website |
| Form Of Engagement Activity | Engagement focused website, blog or social media channel |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Public/other audiences |
| Results and Impact | I have set up and run a public engagement website dedicated to frontotemporal dementia (FTD talk) - it aims to provide information to the public about FTD, and particularly lay updates about research. There is an active blog about my research. |
| Year(s) Of Engagement Activity | 2014,2015,2016,2017,2018,2019,2020,2021 |
| URL | http://www.ftdtalk.org |
| Description | Familial FTD support group |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | Talk to around 100 people as part of the familial FTD support group annual day - discussion about GENFI and current research; questions and discussion about research from family members and those at risk of developing genetic FTD. |
| Year(s) Of Engagement Activity | 2015 |
| URL | https://www.ucl.ac.uk/drc/support-groups/fFTD-support-group |
| Description | Meet the researcher Youtube video |
| Form Of Engagement Activity | Engagement focused website, blog or social media channel |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Public/other audiences |
| Results and Impact | Video made to inform people about research at UCL - interview about work on FTD. |
| Year(s) Of Engagement Activity | 2014,2015,2016,2017 |
| URL | https://www.youtube.com/watch?v=8oMe4bgSHoY&feature=youtu.be |
| Description | Pint of Science 2022 |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | Talk on our FTD research work as part of the Pint of Science annual meeting in 2022 - to ~140 members of public. |
| Year(s) Of Engagement Activity | 2022 |
| Description | Pint of Science Festival |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | Around 100 people attended an event as part of the national Pint of Science Festival - discussion regarding young onset dementias and the work we are doing to find biomarkers and an evidence base for clinical trials - lots of questions and discussion afterwards and personal feedback from audience regarding how much they learned about the area. |
| Year(s) Of Engagement Activity | 2015 |
| Description | Talk at FTD support group annual seminar 2017 |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | Increased awareness of FTD research and the work we are doing to FTD support group consisting mainly of carers. |
| Year(s) Of Engagement Activity | 2017 |
| Description | Talk to event for UK magistrates |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Other audiences |
| Results and Impact | Talk on frontotemporal dementia to a UK magistrates event to inform them about forensic nature of symptomatology of FTD and how our research is exploring this further - long discussion afterwards about how this might inform the work of magistrates, particularly in considering dementia as a underlying problem with people who have been involved in crimes and therefore may change their practice. |
| Year(s) Of Engagement Activity | 2015 |
| Description | The Science Museum - Science Lates - Dementia |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Public/other audiences |
| Results and Impact | Organised and presented at a section of the Science Museum 'Science Lates' evening in April 2016. My section had 5 stands (manned by 10 of my team) each focused on different parts of clinical and imaging dementia research that represented our current research work, particularly focusing on young onset and genetic dementias. >4000 people attended the event. Many people said that their views and understanding about dementia changed as a result of visiting our section. |
| Year(s) Of Engagement Activity | 2016 |