Cure AHC funded published research
DATE AWARDED
AMOUNT
RECIPIENT
PURPOSE
RESULTS
March 2013
$1,000
Duke University
AHC Multidisciplinary Clinic
Launched Clinic, ABC & CBS Affiliates covered the story. As of 8/2017, the clinic has now seen nearly 100 AHC children and adults from around the world or be directly overseeing their care in collaboration with local care teams.
May 2013
$5,000
AIESA (Italian AHC Association
2nd ATP1A3 Symposium in Rome
Published Research Article https://www.ncbi.nlm.nih.gov/pubmed/24739246
April 2014
$20,000
Mohamad Mikati (Duke)
Mouse Model AHC
Published Research Article http://onlinelibrary.wiley.com/doi/10.1111/epi.12878/full (confirming that the mouse model very closely mirrors symptomology seen in humans, thus validating the model for drug screening)
June 2014
$10,000
David Goldstein/ Erin Heinzen (Duke)
MEA Screening for Candidate Drugs in ATP1A3 Mutations D801N & E815K
Several candidate compounds identified - referred to mouse model team for testing.
June 2014
$7,000
AHC Association of Netherlands
3rd Symposium on ATP1A3
Recruited new researchers. Official launch of the International AHC Research Consortium (IAHCRC)
October 2014
$8,000
AHC Association of Iceland
AHC Documentary "Human Timebombs"
Documentary completed http://humantimebombs.com/
January 2015
$45,000
Mohamad Mikati (Duke)
Pathophysiology of
the AHC Knock-in
Mouse Model
Results from study lead to $225,000 ($75K/year for 3 years) award from Duke Institute for Brain Sciences and poster session http://n.neurology.org/content/86/16_Supplement/S52.006 (E815K Mouse model also viable match to human AHC of same mutation origin)
July 2015
$50,000
N/A
Family Gathering and hosted 4th ATP1A3 Symposium in Bethesda, MD
20 families attended, streamed via GoToMeeting to another 25, got attention of FDA and NIH officials, added new researchers, new collaborative ideas generated
September 2015
$59,400
Duke University
Clinical Research Coordinator
*Increased the capacity of the Duke Multidisciplinary Clinic. *Guidelines for treating AHC Symptoms (dramatically improving quality of life).* Several published papers and presentations 1. http://www.neurology.org/content/86/16_Supplement/I15.001 (reporting preliminary findings that VNS can potentially help AHC patients with intractable seizures) 2. https://www.ncbi.nlm.nih.gov/pubmed/28337648 (demonstrating that motor speech deficiency is a hallmark of the disease. This helps validate the need for speech therapy (for insurance coverage) and can serve as a biomarker to test efficacy of target compounds) 3. https://link.springer.com/article/10.1007/s11940-017-0444-7 (this is a comprehensive tool for diagnosing AHC and improving treatment approaches) 4. http://www.neurology.org/content/88/16_Supplement/P3.198.short (identified characteristics of status epilepticus in AHC, to help guide treatment and understand potential impact to future health)
November 2015
$75,000
Erin Heinzen/ David Goldstein (Columbia)
Identify neuronal properties of AHC mutant mouse neurons at baseline conditions, investigate the response mutant neurons to biologically relevant stimuli, ascertain the effect of pharmacological intervention on mutant neuronal networks
Publication pending
July 2016
$41,000
Mohamad Mikati (Duke)
Catastrophic Outcomes in the AHC Knock-in Mouse Models D801N and E815K for AHC
Work in progress
October 2016
$25,000
Erin Heinsen/ David Goldstein (Columbia)
Phase 2 of Optogenetics Study
Publication pending
December 2016
$55,000
Mohamad Mikati (Duke)
mRNA Study (strategic development of novel compounds to treat disease at molecular level
Work in progress, funding still needed
December 2016
$50,000
Mohamad Mikati (Duke)
ATP1A2 Mouse Model
Work in progress, funding still needed
February 2017
$15,000
IAHCRC (Duke University)
OBSERV-AHC (Natural History Project)
Work in progress, funding still needed
March 2017
$6,000
IAHCRC
IAHCRC Cloud Platform
Joint efforts with AHC Associations of UK, Iceland & Netherlands
July 2017
$45,000
N/A
Family Gathering in Boston, MA
Provided stipends to offset costs to 25 families
July 2017
$33,000
Karin Lykke-Hartmann (Aarhus University, Denmark)
To analyze the underlying mechanism that cause the cognitive impairment
Work in progress