Fimage-Research

Research Projects

The primary goal of The Alternating Hemiplegia of Childhood Foundation is to raise funds for research and to find treatments and a cure for all children with AHC. Over the years, the Foundation has funded the following grants related to this goal. For the full text of the grants, please email sharon@ahckids.org  Grant updates and related progress reports can be found after each individual grant.

Current research grant funded by AHCF

Current Grant 2015 – Molecular Physiology and Pharmacology of  ATP1A3  Mutations in AHC (phase 4)

AlGeorgeEsssquared$250,000 awarded to Dr. Kevin C. Ess at Vanderbilt University and Dr. Alfred George, Jr. at Northwestern University to continue their work to determine functional and biochemical consequences of the three most common gene mutations causing AHC. They have made induced pluripotent stem cells (iPSCs) derived from AHC patients. These cells will be differentiated to subclasses of neurons and tested for functional deficits. They will also be using a cell and computer -based screening process to identify drugs or drug-like compounds that are capable of restoring normal ATP1A3 gene function. Finally, they will investigate novel animal models of AHC to elucidate mechanisms of the disease and to test therapeutic strategies.

This grant was a collaborative effort between the AHCF and the Alternating Hemiplegia of Childhood Ireland.

Previously awarded research grants funded by or in-part by AHCF.

2014 – Molecular Physiology and Pharmacology of  ATP1A3  Mutations in AHC

EssSimmons-in-lab1-300x225$281,614.00 awarded to Dr. Kevin Ess at Vanderbilt University and Dr. Alfred George, Jr. at Northwestern University to continue their work to determine functional and biochemical consequences of the three most common gene mutations causing AHC. They will also continue to identify drugs or drug-like compounds through a drug screening program that are capable of restoring normal ATP1A3 gene function. Finally, they have made induced pluripotent stem cells (iPSCs) derived from AHC patients.  These again include the three most common gene mutations causing AHC.  These patient derived stem cells will be used to investigate electrophysiological abnormalities of neurons and to test whether compounds they have identified can restore ATP1A3 function.

‘We are extremely honored to continue our work with the Foundation and its membership. This is a very exciting phase of discovery for everyone connected to AHC and is critical to expand our knowledge of ATP1A3 function and to seek new treatment strategies. The very generous donation by the AHCF will enable us to determine mechanisms used by specific ATP1A3 mutations that cause AHC. We will continue our success from last year by identifying novel potential drug therapies that can correct the defect caused by specific ATP1A3 mutations. Notably, we are using human cell lines including induced pluripotent stem cells (iPSCs) that harbor ATP1A3 mutations. Our experiential approach was designed to most quickly identify disease pathways as well as potential therapeutics that can help those afflicted with AHC.

Progress Report:

Click here to view the final progress report from August 2015. (PDF format)
Click Here to view the interim progress report from March 2015. (PDF format)

2013Research Grant awarded to Radboud University Nijmegen the Netherlands
JanKoenderink$13,500.00  was awarded to Dr. Jan B Koenderink, Radboud University Nijmegen Medical Centre, The Netherlands. His group studied the molecular consequences of at least six different ATP1A3 mutations in functional in vitro assays. Eventually, the relationship between these mutations and AHC will be evaluated.

This grant was a collaborative effort between the AHCF and the AHC Association of Iceland http://www.ahc.is/en/

Progress Report:

Click here to view a research poster of the grant results. (PDF format)


2013 – Research Grant awarded to Vanderbilt UniversityMolecular Physiology and Pharmacology of ATP1A3 Mutations in AHC”

$169,154 grant awarded to Dr. Alfred George, Jr. and Dr. Kevin Ess at Vanderbilt University to determine the functional and biochemical consequences of the three most common gene mutations causing AHC, to identify drugs or drug-like compounds capable of restoring normal gene function, and to investigate the electrophysiological properties of human neurons generated from induced pluripotent stem cells derived from AHC patients.

AlGeorgeQuote from Dr. George: “We are honored to work with the Foundation and its membership to help understand the basis for AHC and to seek new treatment strategies. This very generous donation will enable us to determine how ATP1A3 mutations cause AHC and to find pharmacological strategies to correct the defect. While animal research is always very important, this work will use human neurons generated from patients with AHC.”

Progress Reports:

Click Here to view the interim progress report from July 2014. (PDF format)

Click here to view the interim progress report from January 2014. (PDF format)


2012 – Grants awarded to Vanderbilt and University of Utah:

Molecular Physiology and Pharmacology of ATP1A3 Mutations in AHC
$94,535 grant awarded to Dr. Alfred George, Jr. and Dr. Kevin Ess at Vanderbilt University  to investigate the functional consequences of AHC gene mutations, to identify drugs or drug-like compounds with potential therapeutic effects in restoring normal gene function, and to develop advanced human cell models of AHC based on state-of-the-art induced pluripotent stem cell technologies.

Progress Report:  Click here to review the final report from this grant. (PDF format)


Novel Genetic Causes for AHC in Familial or Sporadic cases or both

KathySwoboda$51,625 grant awarded to the Pediatric Motors Disorders Research Program at the University of Utah, Dr Kathryn Swoboda principal Investigator, to identify additional causative gene(s) in patients without mutations in ATP1A3.


2012 – Grant awarded to the University of Utah: Clinical and Genetics Studies in AHC and Genotype/Phenotype Correlations and Online AHC database

$175,000.00 grant awarded to Dr Swoboda – Part I: Clinical and Genetics Studies in AHC and Genotype/Phenotype Correlations, Part II: Online AHC database: Natural history and Functional Outcomes. Principal Investigator, Dr Kathryn Swoboda; Key Personnel: Research Associate, Kelley Murphy; Project Manager, Dr. Sandra Reyna

Progress Report:  Click here to view 2013 progress report for this grant. (PDF format)

Genetic Discovery 1/18/2012: http://www.nature.com/ng/journal/v44/n9/full/ng.2358.html


2011 Grant to Dr. Reyna

SandraReyna$25,000.00, Grant awarded to Dr Reyna to provide certain consultation, supervisory and advisory services in connection with the clinical drug trials through 12/31/2011.


2010 Pepsi Grant

$250,000.00, Pepsi Grant, To Identify the gene or genes causative for Alternating Hemiplegia of Childhood (AHC) as the critical step in understanding pathogenesis, In collaboration with the Institute of Systems Biology and complete Genomics, Dr Kathryn Swoboda Primary Investigator.


2010 Chase Grant

$20,000.00, Chase Grant, Allocated to Dr Sandra Reyna to provide certain consultation, supervisory and advisory services in connection with the clinical drug trials sponsored by AHCF – $5000.00 additional monies provided by AHCF


2009 – 2011 Clinical Drug Trials: $25,118.00 The Foundation funded the Single-center Phase I/II Trial of Sodium Oxybate in Patients with Alternating Hemiplegia of Childhood. Dr Aga Lewelt Primary Investigator.


7/1/2007 – 6/30/2010 Grant to Dr. Swoboda

Three year grant awarded to continue ongoing efforts to identify the genetic mechanisms involved in disease pathogenesis, development of a fellowship program designed to attract new and talented young physicians to AHC research and proposed pilot clinical trial. Dr Kathryn Swoboda, Primary Investigator
7/1/2009 – 6/30/2010 – $134,873.50
7/1/2008 – 6/30/2009 – $211,473.02
7/1/2007 – 6/30/2008 – $203,339.45


2006 Grant to Dr. Magleby

JoshMagleby$3100.00, Cognitive and Behavior Research Study.
Dr. Josh Magleby Phd. Primary Investigator


2003 – 2006 Grant to Dr. Swoboda

$66,890.00 each year, for three years ($200,670.00 total), University of Utah, Neurogenics Laboratory, to identify the genetic cause of Alternating Hemiplegia of Childhood, Dr. Kathryn Swoboda, Primary Investigator.


1999 – 2002 Grant to Drs. Van Brederode and Rho

$37,485.00, Effects of Flunarizine on Neocortical GABAergic Glutamatergic function. Dr. Van Brederode and Dr. Rho, Primary Investigators.

1999 – 2000 Grant to Dr. Ptacek
$40,000.00, Research for Molecular understanding of AHC. Dr. Ptacek, Primary Investigator transition from Dr Ptacek to Dr Kathryn Swoboda

1997Research Symposium/Workshop, May 1997 in Seattle, WA – sponsored by AHCF

1996 – 1997 PET Grant
$20,000.00 from AHF & $10,000.00 from IFAHC to study AHC patients using Positron Emission Tomography. Dr. Chugani, Primary Investigator.

1995 Grant to Dr. Chugani
$19,000.00 to evaluate treatment approaches in AHC, and investigate underlying causes of the disorder, Dr. Chugani, Primary Investigator