Developing a methodological framework for trials in presymptomatic neurodegenerative disease - the Presymptomatic Neurodegeneration Initiative (PreNI)
Lead Research Organisation:
University College London
Department Name: Institute of Neurology
Abstract
Multicentre presymptomatic cohort studies are underway in a number of different
neurodegenerative diseases and will be central to trials of disease modifying therapies
as they provide the opportunity for early intervention. Although each disorder has its own
unique issues in relation to such trials, there are shared themes across the different
diseases that would benefit from greater discussion and interaction between experts in
the field. This working group will bring together experts in presymptomatic studies of
genetic Alzheimer's disease, frontotemporal dementia, Huntington's disease,
Parkinson's disease, prion disease, motor neuron disease and the spinocerebellar
ataxias. The groups will identify the key shared themes including trial design, the use of
surrogate endpoints, regulatory perspectives, academic-industry partnerships,
recruitment and registers, ethical considerations, and support for participants in trials.
Through a series of face-to-face workshops and webex meetings the group will move
from sharing individual disease-based perspectives to producing cross-disease
guidelines for trials in presymptomatic neurodegenerative disease.
neurodegenerative diseases and will be central to trials of disease modifying therapies
as they provide the opportunity for early intervention. Although each disorder has its own
unique issues in relation to such trials, there are shared themes across the different
diseases that would benefit from greater discussion and interaction between experts in
the field. This working group will bring together experts in presymptomatic studies of
genetic Alzheimer's disease, frontotemporal dementia, Huntington's disease,
Parkinson's disease, prion disease, motor neuron disease and the spinocerebellar
ataxias. The groups will identify the key shared themes including trial design, the use of
surrogate endpoints, regulatory perspectives, academic-industry partnerships,
recruitment and registers, ethical considerations, and support for participants in trials.
Through a series of face-to-face workshops and webex meetings the group will move
from sharing individual disease-based perspectives to producing cross-disease
guidelines for trials in presymptomatic neurodegenerative disease.
Organisations
- University College London (Lead Research Organisation)
- University of Coimbra (Collaboration)
- Karolinska Institute (Collaboration)
- August Pi i Sunyer Biomedical Research Institute (Collaboration)
- University of Laval (Collaboration)
- University of Limoges (Collaboration)
- University of Brescia (Collaboration)
- Brescia Fatebenefratelli (Collaboration)
- Carlo Besta Neurological Institute (Collaboration)
- Ludwig Maximilian University of Munich (LMU Munich) (Collaboration)
- University of Florence (Collaboration)
- University Hospital Donostia (Collaboration)
- University of Milan (Collaboration)
- University of Manchester (Collaboration)
- University of Ulm (Collaboration)
- University of Lisbon (Collaboration)
- McGill University (Collaboration)
- Erasmus MC (Collaboration)
- UNIVERSITY OF CAMBRIDGE (Collaboration)
- UNIVERSITY OF OXFORD (Collaboration)
- Western University (Collaboration)
- UZ Leuven, Belgium (Collaboration)
- Pitié-Salpêtrière Hospital (Collaboration)
- University of Lille (Collaboration)
- University of Toronto (Collaboration)
- University Hospital Tuebingen (Collaboration)
- University of Rouen (Collaboration)
People |
ORCID iD |
| Jonathan Daniel Rohrer (Principal Investigator) |
Publications
Ferrari R
(2017)
Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
in Journal of neurology, neurosurgery, and psychiatry
Koriath CA
(2017)
The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.
in Alzheimer's & dementia (Amsterdam, Netherlands)
Marshall CR
(2016)
C9orf72 mutations and the puzzle of cerebro-cerebellar network degeneration.
in Brain : a journal of neurology
Meeter L
(2016)
Neurofilament light chain: a biomarker for genetic frontotemporal dementia
in Annals of Clinical and Translational Neurology
Rohrer JD
(2016)
Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia.
in Neurology
Warren JD
(2016)
Binary reversals in primary progressive aphasia.
in Cortex; a journal devoted to the study of the nervous system and behavior
Woollacott IO
(2016)
The clinical spectrum of sporadic and familial forms of frontotemporal dementia.
in Journal of neurochemistry
| 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 | 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 | 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 | 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 |