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Overview

The focus of our Research Strategy is to advance translational and clinical research, develop a support structure for clinical studies, secure and promote AHC data and biomaterials, and facilitate collaboration to benefit the AHC community in a purposeful and timely manner. We strive to find the cause(s) of AHC, develop effective treatments, and find a cure, while providing support to families and individuals with AHC.

Funding Awards

AHCF has an open call for funding opportunities of interest to the AHC community. We strive to fund projects that fit within four main categories.

Care

Advance translational and clinical research to provide insights on AHC triggers and identify methods for reducing stress induced episodes.

Collaborate

Support clinicians and researchers across a diverse landscape to expand awareness and research for the AHC community.

Communicate

Support the development of necessary research tools, techniques, model systems, and data collection platforms to stimulate and accelerate AHC research.

Cure

Optimize scientific advances that have the potential to truly transform the lives of those affected by AHC, with prevention and disease modification as critical goals.

Funding Request Process

The general process used to evaluate funding requests has four steps.

1

LETTER OF INTENT (LOI)

To ascertain the foundation’s interest in a project, we suggest submitting a letter of intent (LOI) to the Board of Directors. The LOI may be a brief description of the proposed research project and its relevance to the AHC community. An LOI may be submitted for consideration at any time of the year. The AHCF board will review the LOI and determine the foundation’s interest level of moving towards a full proposal.

2

FULL PROPOSAL STAGE

Once an LOI is shared with the board, notice will be provided expressing our level of interest in learning more about the scientific and budgetary aspects of the project. If moving forward, timelines will be shared to meet everyone’s objectives and move into the next phase.

3

FULL PROPOSAL REVIEW

Each full grant proposal will be reviewed by members of the AHCF Medical Advisory Board, the AHCF Research Committee and the AHCF Finance Committee. Each group will submit recommendations and comments regarding the proposal to the AHCF Board of Directors for consideration.

4

BOARD OF DIRECTORS ACTION

The AHCF Board of Directors will review all proposal documents, recommendations, and comments before voting on the proposal. After official action is taken by a quorum of the board, a letter indicating the funding status of the proposal will be sent to the applicant.

Research & Clinical Care Meetings

For over three decades, AHCF has provided researchers, clinicians, specialists, therapists, and experts with an opportunity to meet, observe and network with the AHC family community. In addition to a well-balanced program of research topics, scientific workshops and research clinics have been hosted during the meetings as well. AHCF is honored to facilitate these meetings to maintain an engaged community and supportive professional team.

Research Infrastructure

A major component of our research portfolio is the longstanding investment in the clinical research infrastructure required for clinical trial success.

The AHC Foundation funded the first AHC integrated clinical research center under the direction of Dr. Kathryn Swoboda. First at the University of Utah, and later, at Harvard Medical Center. Since the center’s inception, AHCF has supported key clinical research studies such as the AHC Natural History Study, the AHC International Patient Registry, and the AHC Biobank.

Five select papers from AHCF funding:

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLoS One. 2015 May 21. Swoboda KJ., et al.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4440742/

The Expanding Spectrum of Neurological Phenotypes in Children with ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond. Pediatr Neurol. 2015 Jan;52(1):56-64. Sweney MT, Newcomb TM, Swoboda KJ., et al.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4352574/

Research Conference Summary from the 2014 International Task Force on ATP1A3-Related Disorders. Neurol Genet. 2017 Mar 2;3(2). Swoboda K., et al.
https://pmc.ncbi.nlm.nih.gov/articles/PMC5335249/

De Novo Mutations in ATP1A3 Cause Alternating Hemiplegia of Childhood. Nat Genet. 2012 Sep;44(9):1030-4. Heinzen EL, Swoboda KJ, Mikati MA, Goldstein DB., et al.
https://pmc.ncbi.nlm.nih.gov/articles/PMC3442240/

Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome. Pediatrics. 2009 Mar;123(3): e534-41.
Sweney MT, Silver K, Lewelt AJ, Reyna SP, Swoboda KJ., et al.
https://pubmed.ncbi.nlm.nih.gov/19254988/

Partnerships

Overview

We remain deeply committed to our research partners, recognizing their invaluable contributions to advancing science, and improving patient outcomes. By fostering open communication, sharing resources, and celebrating joint achievements, we strengthen the foundation of trust and collaboration that drives meaningful progress.

Together, we continue to push boundaries, innovate, and deliver hope to the AHC community.

Current Research Partners:
  • Aspartes Pharmaceutical
  • Boston Children’s Hospital (BCH)
  • Broad Institute
  • Brown University
  • Case Western Reserve University
  • Child Neurology Foundation
  • Global Genes
  • Harvard University
  • International AHC Research Consortium
  • Jackson Laboratories
  • Leiden University (The Netherlands)
  • Massachusetts General Hospital
  • Mahzi Therapeutics
  • National Institute of Neurological Disorders and Stroke
  • National Organization for Rare Disorders (NORD)
  • Northwestern University
  • Orphan Disease Center
  • RareX
  • Rare Epilepsy Network (REN)
  • Sorbonne University (France)

We are deeply grateful for the meaningful collaborations we have shared with our earlier research partners. Their dedication, insight, and shared commitment to advancing knowledge have left a lasting impact on the AHC community. These partnerships laid the groundwork for innovation and progress, and we continue to value the contributions they made to our collective mission.

  • AxosLabs
  • Cleveland Clinic
  • Duke University
  • Fluofarma IHC
  • Janvier Labs (France)
  • Montreal Research Symposium (Canada)
  • Porsolt (France)
  • Radboud University Nijmegen (The Netherlands)
  • Seattle Research Symposium
  • SomaLogic
  • The Jackson Laboratories
  • University of Leeds (England)
  • University of Seattle
  • University of Utah
  • UT Southwestern Medical Center
  • Vanderbilt University
  • Wayne State University

Questions? Contact Us