bourses de recherche Dravet Canada
Dravet Canada Research Award process
Dravet Canada is the Canadian Network for families, friends and caregivers of individuals with Dravet spectrum disorders. Applications for our research grants will be continuously received and periodically reviewed by our panel, with the official award announcements to be made quarterly as needed.
Dravet Spectrum Disorders are rare and catastrophic forms of epilepsy that begin in infancy. Children suffer from multiple types of seizures and many associated conditions including behavioural and developmental delays, movement and balance issues, delayed language, speech issues.
Current treatment options are extremely limited, resulting in diminished quality of life and a poor prognosis for these children. Needless to say, the burden on these families is significant.
The goal of our Network is to support individuals and families affected with this type of epilepsy and to promote research so that one day there may be an effective treatment to prevent the disabilities associated with this disorder or perhaps a cure.
2016 Research Call
$35,000 towards Dr. Danielle Andrade and her team studying “Long-term outcomes in Dravet Syndrome”.
2015 Dravet.ca Research Award
|Dr. Elizabeth Donner and her team from the Hospital for Sick Children with their project entitled“A Case-control Study of SUDEP in Dravet Spectrum Disorders Une étude cas-témoin de la SUDEP chez les personnes atteintes de troubles du spectre de Dravet”
We presented the cheque for $20,000 in August.
Good luck Dr. Donner and team, we wish you well in your research.
Objectives and methods:
Objective 1: Create a network of collaborators to identify DSD SUDEP cases and DSD living controls. Collaborations will be established with DSD advocacy groups and clinical experts working in DSD. Working with the North American SUDEP Registry, we will assemble collaborators from Canada, the US, Europe, Asia and Australia to optimize case ascertainment of SUDEP in Dravet. Several collaborations are already established. Each participating centre will obtain institutional research ethics board approval.
Objective 2: Determine the frequency of recognized and novel risk factors for SUDEP in DSD. A case-control cohort will be assembled. Case Study Population: Any unexpected death in a person with Dravet will be considered for enrolment.
Inclusion Criteria: 1) DSD defined as:10
a) Generalized or focal febrile seizures beginning in first year of life in an otherwise healthy infant. Secondary appearance of multiple seizure types including myoclonic, absence and/or complex partial, developing after the first year of life
b) Normal neuroimaging
c) Genetic testing not required
2) SUDEP defined as:
a) Death was sudden and unexpected
b) Death occurred during normal circumstances
Autopsy is not required. Autopsy-confirmed SUDEP will be termed Definite SUDEP; other cases will be termed Probable SUDEP or Possible SUDEP after adjudication. We do not exclude cases of status epilepticus – many SUDEP are not witnessed and the presence of seizures and/or status epilepticus cannot be reliably determined.
Control subject population Two living individuals with DSD will be matched for geographic region to each DSD SUDEP case.
Standardized data collection will be performed.
|Dr. David Hampson and his team from the University of Toronto with their project entitled “A Pilot Study of Gene Therapy in a Mouse Model of Dravet Syndrome “
We presented the cheque for $20,000 in August.
Good luck Dr. Hampson and team, we wish you well in your research
The overall goal of our research is to develop biological therapeutic agents for treating Autism Spectrum Disorders. Our approach is to assess the efficacy of viral vectors encoding wild-type (normal) proteins that are missing, reduced, or mutated in mouse models of various autistic syndromes. In the Dravet Syndrome project, we will use highly customized viral vectors to rescue abnormal CNS biochemistry and behavior in a mouse model of Dravet Syndrome. We hypothesize that viral vector-mediated gene therapy represents a viable approach to treating CNS genetic disorders such as Dravet. A huge advantage of gene therapy is that a single administration of the vector translates into long-term transgene expression (vector-mediated protein synthesis) in the CNS, thus potentially inducing comprehensive and lasting correction of the disorder. We will examine the application of viral vector therapy for correcting abnormal inhibitory neurotransmission in Dravet mice where the NaV1.1 sodium channel is mutated. The seizures, and possibly other symptoms of Dravet Syndrome, are thought to be largely induced by impaired neurotransmission in GABA-containing inhibitory neurons due to the defective NaV1.1 channels in these cells. Therefore, a specific objective is to boost the effectiveness of these neurons by selectively expressing wild-type NaV1.1 channels in GABA neurons. Success in selectively targeting vector expression to inhibitory neurons could have additional positive spin-offs by demonstrating proof-of-principle, and thereby potentially extending applicability of this strategy to other neurological/psychiatric disorders seeking to modify GABAergic neurotransmission in the brain.
2014 Dravet.ca Research Award
We will be presenting the cheque for $35,000 early in March.
Good luck Dr. del Campo and team, we wish you well in your research.
In the recent past, “medicinal marihuana” has received a great deal of attention as an alternative or an adjuvant to conventional treatments for epilepsy. However, Cannabis sativa has been used as a medicinal agent for various ailments from time immemorial. In Canada, health authorities have approved its use in a variety of conditions, including seizure disorders but physicians have been loathe to liberally prescribe medicinal marihuana for epilepsy due to a glaring lack of scientific evidence of efficacy, toxicity and long-term results.
Experimental evidence suggests an overall anticonvulsant effect of cannabinoids, especially cannabidiol which appears to have no psychoactive properties, therefore, not felt to be responsible for the “high” marihuana users experience. Genetic modification of Cannabis sativa has resulted in strains with high canabidiol and low tetrahydrocannabinol (which is the main psychoactive component) concentration, making them a suitable candidate for clinical testing.
Anecdotal reports of benefit, particularly in some patients with Dravet syndrome, have been highly publicized, provoking a grass-roots swell of interest in legitimizing this form of approach.
To date, no randomized trials of cannabinoids in epilepsy have been conducted. It is such a trial that most scientists will consider necessary to demonstrate therapeutic efficacy. It is the purpose of this project to initiate a study in a large population of patients with a variety of seizure disorders, including adult patients with Dravet syndrome, so an acceptable answer regarding efficacy, tolerability and long term results can be obtained.
It is hoped that this small pilot project will grow into a multi-centre trial so that adequate numbers of treated patients can be examined.