Medical Research

Studies

Pediatric Motor Disorders Research Program

The following studies are no longer recruiting participants:

We are currently recruiting participants for the AHC studies listed below:

(more…)

Research Updates

ATP1A3

Testing for the ATP1A3 gene

In 2012 we were able to announce that the first gene responsible for AHC (ATP1A3) had been found and confirmed! This is exciting news because over 70% of those suffering with AHC have this mutation. 

The paper describing this finding can be found here:
http://www.newswise.com/articles/gene-mutations-identified-as-cause-of-most-cases-of-rare-disorder-ahc

If you would like to know if your child has the ATP1A3 gene please contact sharon@ahckids.org and we’ll arrange for your family to be tested. (more…)

Clinical Drug Trial Updates

AHC-SO Clinical Trial Update

Aga Lewelt M.D. presented an update on the Sodium Oxybate Clinical drug trial at the Family Meeting in July, 2011 AHCF presentation_Lewelt

Current Grants Foundation Updates

Grants awarded to Vanderbilt and University of Utah

The AHCF Board is pleased to announce that we have awarded the following grants to Vanderbilt University and the University of Utah: (more…)

Previous Grants

2012 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