17 Apr Gruppo Famiglie Dravet
Stakeholders get involved and stand up to a big challenge
Dravet syndrome is a rare form of epilepsy associated with impairment of the neurological development, beginning in the first year of life. The disease progresses with a certain degree of heterogeneity concerning the cognitive and motor impairment and behavioural disorders, but a common issue for all patients is represented by frequent and often long lasting seizures. This has a great impact from a cognitive and motor point of view leading to severe disability; most adults with Dravet syndrome are not able to live autonomously.
The lack of effective therapies is the main challenge research has to face in order to pro-vide hope for the community of people and families struggling with Dravet syndrome.
The Italian “Gruppo Famiglie Dravet” was created in 2010 and gathers today more than seventy families.
The mission of the association is to foster a network of support and solidarity among families, to protect patients’ rights and support scientific research.
The first steps in favour of research were taken through the creation of a disease registry and of a biobank hosted within the Telethon Network of Genetic Biobanks; these actions were pivotal to facilitate access by the international scientific community to biological samples and clinical data which are essential to the study of the natural history of the disease.
Over the last few years, thanks to the assistance of Science Compass, Gruppo Famiglie Dravet issued a top-down funding initiative to support research activities at Gaslini hospital in Genova and a competitive call for projects.
Laying the ground for these operations was done through an accurate scenario analysis integrating the study of the relevant literature and the interaction with major funders in the field to map the global research landscape on the disease.
It is particularly important for diseases so rare as Dravet syndrome to avoid duplication of the efforts deployed; this is the only way every investment, though small, can have an impact.
The call for projects, which is currently going through the evaluation step, is characterised by some peculiar and innovative features relative to the Italian context:
- it is open to the international scientific community – it has been widely publicised thanks to a global network of contacts built with international patients associations and scientific community
- submitted proposals go through a rigorous peer review- based evaluation by a committee made up of independent international experts – the goal here is to minimise the risk of conflict of interest
- the final step of the selection process will be performed by parents – proposals obtaining a positive opinion by the scientific committee will then go through the review of a lay panel which will decide which project is most in line with the association’s goals and families’ needs.
Science Compass has devised a process for the submission and evaluation of proposals which is coherent with the aims of the call and has developed a prioritising and scoring system specifically customised to support a lay review panel in reaching an overall critical consensus on each project.