Overview
The AHC Foundation is dedicated to collaborating, developing, and funding research projects that support our mission.
Current AHC Projects
The current portfolio of research projects seeks 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.
Therapeutic Research – providing insights & methods to reduce AHC symptoms and improve quality of life
High Flow Oxygen Therapy Clinical Trial
Dr. Emmanuel Flammond – Roze, Sorbonne University (Paris, France)
- A clinical trial taking place in France to prove that high flow oxygen is efficacious for limiting paroxysmal symptoms in AHC and may be a valid treatment for relieving AHC symptoms.
- AHCF is one of several international AHC foundations funding this project coordinated by Remi Orhant of the Association Française de l’Hémiplégie Alternante – AFHA.
Flunarizine, Open Label Pharmacokinetic Study
Denny Medjedovic, Aspartes Pharmaceutical (Boston, MA)
- Phase 1 will assess pharmacokinetics (PKs) safety & tolerability in healthy volunteers. Aspartes is directly funding the study.
- Trial design discussions began in 2023 at the AHCF Family Meeting in Los Angeles. Since then, conversations with numerous community members from all over the world occurred to keep the study moving forward.
- AHCF is honored to serve on the trial patient advisory committee and represented by Vicky Platt.
Enhance Our Understanding of AHC – uncover new lines of scientific investigation
Mortality Study
Rare Epilepsy Network & COMBINEDBrain
- AHCF is honored to participate in a cross-disorder mortality study group.
- Led by COMBINEDBrain, patient advocacy leaders will collaborate on an effort to advance the understanding of mortality in rare neurogenetic diseases. Identifying patient-reported causes of mortality and resources for bereaved families will also be part of the study.
- The study is coordinated by Laura Ohl and managed by Vicky Platt.
D801 Variant on Brain Activity and Cell Survival
Monica Sietam, National Institute of Neurological Disorders and Stroke (Washington, DC)
- One of the biggest unanswered questions in AHC is what causes the sudden attacks of paroxysmal symptoms that families know so well, including episodes of dystonia and hemiplegia.
- This new project will investigate whether these symptoms may be linked to dysfunction in a specific brain circuit: the cerebellum, a region that plays a key role in coordination and movement.
- This study is developed by Nina Frost, co-funded by AHCF, Cure AHC and Rare Hope and managed for AHCF by Vicky Platt.
Genetic Counseling Student Exchange (GCSX) Jumpstart Program
Taylor Salvigsen, Orphan Disease Center (Pittsburgh, PA)
- AHCF was selected to participate in GCSX and then partnered with a student in the genetics counseling graduate program.
- Together, we will create two infographics on AHC. The first will focus on caregivers and the second, on clinicians.
- The project will be managed by Mollie Erpenbeck and Vicky Platt. Both resources will be reviewed by Dr. Kathryn Swoboda.
Understanding Family Experiences with AHC
Rae Dwyer, Case Western Reserve University (Cleveland, OH)
- A study by a genetic counselor to understand the experience of AHC families, detail the diagnostic process for AHC, align patient and research goals for treatment, and help shape future advancements in AHC care and advocacy.
- Individual interviews were conducted at the 2025 AHCF Family Meeting & additional interviews will be conducted via Zoom throughout 2025.
- The project is coordinated by Dr. Suzanne DeBrosse and managed by Vicky Platt.
AHC Research Infrastructure – tools, techniques, & model systems needed for AHC research
AHC Resource Development & Disease State Measurement
Dr. Nutan Sharma, Harvard University (Boston, MA)
- An AHC study to identify quantifiable measures of disease state which includes children and adults. With opportunities to participate in multiple regional meetings or via telehealth appointments, this is the first time families can participate in a research study from home.
- From a movement disorder perspective, with pediatric and adult investigators, they will characterize the changes in symptoms that occur during adolescence and adulthood, further refining disease evolution.
- The project is fully funded by AHCF and is coordinated by Vicky Platt.
Investigating and Treating Neuronal Hyperexcitability and Spreading Depolarization in AHC ATP1A3 Mutant Mice
Prof. Dr. Arn M.J.M van den Maagdenberg (Leiden, The Netherlands)
- Pilot experiments indicate increased hyperexcitability and spreading depolarization in ATP1A3 mutant mice.
- The study will explore the abnormal brain activity profiles in AHC mutant mice to assess how they lead to the phenotypes and then (non)pharmacologically modulate these based on knowledge of the neurobiological mechanisms involved.
- This is a five-year internationally funded study of which AHCF is proud to be a member. The project was coordinated by Nina Frost and managed for AHCF by Vicky Platt.
AHC Wearables Study
Dr. Anoopum Gupta, Harvard University (Boston, MA)
- The study will evaluate the ability of wearable sensors worn at home to capture changes in movement in children with AHC. It will seek to 1.) Identify differences in movement between children with AHC versus children without AHC. 2.) Identify differences in movement during episodes versus between episodes. 3.) Determine which types of episodes are best captured with wrist and ankle sensors. 4.) Determine future potential for longitudinal study.
- This pilot study is co-funded by AHCF, Cure AHC and Rare Hope and developed by Nina Frost.
AHC C.elegans Worm Models
Dr. Anne Hart, Brown University (Providence, RI)
- This project has three aims 1.) Create and validate a null/+ worm as loss of function (LOF) control for AHC genotype allele to help understand genetic mutation. 2.) Attempt functional rescue to understand the suitability of the gene therapy approach. 3.) Additional characterization and identification of optimal assays for future genetic and pharmaceutical screens.
- Phase 2 of the project is co-funded by AHCF, Cure AHC and Rare Hope and is coordinated by Nina Frost.
Support the Future of AHC Research – expanding awareness & research for the AHC community
RARE Advocate Development Brain Workshop, 2026
Global Genes, Rare Epilepsy Network & Mahzi Therapeutics, (Boston, MA)
- A three-day intensive meeting focused on the development of CNS therapies.
- This small-group format educational meeting is designed for rare disease patient advocates who are accelerating research in their neurological condition and have already started funding and engaging directly in research projects.
- The aim is for all attendees to become more confident in addressing a rare drug development or research-related goal for their community.
- AHCF received a grant to attend the meeting and was represented by Vicky Platt.
Postdoctoral Fellow – Educational Support
Dr. Jacqueline Leite, Northwestern University (Chicago, IL)
- Dr. Jacqueline Leite began a one-year training position in Dr. Al George’s lab at Northwestern University. The training plan will include generating a panel of iPSC lines in ATP1A3 mutations and testing BD-15 and related compounds in the G947R mouse.
- Dr. Leite will receive training in handling AHC mice, performing neurobehavioral phenotyping, and assessing seizure susceptibility.
- The project is fully funded by AHCF and coordinated by Vicky Platt.
ATP1A3 International Symposiums
- Since 2012, leading scientists, clinicians, researchers, and AHC family foundations have attended an annual meeting to discuss the latest scientific developments in ATP1A3-related disorders.
- Each year, we proudly donate funds to help cover meeting costs, provide stipends for AHC clinicians (U.S. or international) to attend the meeting, and sponsor foundation representatives.
- When the meetings take place in the United States, we serve on the host committee and increase our financial support.
Dysfunction Correction – correcting the genetic cause of AHC
ASO-Based Therapies (Antisense Oligonucleotides) Proof of Concept
- The ASO field is an emerging area of drug development that targets the disease source at the RNA level and offers a promising alternative to therapies targeting downstream processes.
- Mary Saladino formed For Henry to focus on ASO research. Shortly after, she invited AHCF, Cure AHC and Rare Hope to co-fund community-focused ASO research projects.
- We co-funded ASO projects at AxoLabs, iXCells, and Jackson Laboratories. We look forward to For Henry achieving enormous success on the ASO path and are eager to continue our community-based research efforts soon.
Gene Editing
- Gene editing is a method for making specific changes to the DNA of a cell or organism. It can be used to add, remove, or alter DNA in the genome.
- Coordinating the project for our patient advocacy groups, Nina Frost and Natalia Morsci are working closely with Dr. David Liu and Dr. Alex Sousa at the Broad Institute and Dr. Cat Lux at The Jackson Laboratory.
- The project was initially co-funded by AHCF, Cure AHC and Rare Hope. When Rare Hope won the Chan Zuckerberg Initiative Grant, they continued to fund the project along with generous donations from The Jackson Laboratory.
- Markus Terrey, from JAX Labs, provides monthly updates on this project to many distinguished researchers, clinicians, scientists, and AHC foundation representatives. We are honored to participate on the call with such an amazing lineup of professionals.
Gene Therapy
- Gene therapy is a technique that modifies a person’s genes to treat or cure disease. Gene therapies can work by several mechanisms: replacing a disease-causing gene with a healthy copy of the gene, inactivating a disease-causing gene that is not functioning properly, or introducing a new or modified gene into the body to help treat a disease.
- In 2017, Simon Frost brought a collaborative project to AHCF as a co-funding opportunity with Cure AHC.
- Subsequent projects allowed for international participation in funding gene therapy projects with amazing investigators in the United States.
- The complexity of AHC put a pause on gene therapy efforts in hopes that new advances will soon make this a viable therapy for AHC.
Research in Development
Overview
Every breakthrough in rare-disease research begins with a bold idea and the courage to chase it. The projects we develop today are planting the seeds for tomorrow’s answers that families have been waiting for, sometimes for generations. When we invest in new research, we are not just imagining a better future; we are building it. Step by step, study by study, discovery by discovery, we are turning hope into progress and progress into possibility. Here are some projects under development and with your help, we are moving forward together.
Therapeutic Research – providing insights & methods to reduce AHC symptoms and improve quality of life
Drug Repurposing is a structured scientific process that identifies new therapeutic uses for existing drugs using preclinical models, computational biology, clinical data, and mechanism-based research. There are numerous efforts occurring internationally within the AHC community. AHCF has participated in a variety of drug repurposing projects and is looking forward to another project soon.
Enhance Our Understanding of AHC – uncover new lines of scientific investigation
Neuroinflammation in AHC is important because it may reveal hidden mechanisms driving symptoms that current ATP1A3-focused models cannot fully explain. While existing research emphasizes ion pump dysfunction, multiple reviews note that the full pathophysiology of AHC remains unknown, with contributions from additional biological processes beyond ATP1A3 mutations. Neuroinflammation is one of the most plausible missing pieces.
AHC Research Infrastructure – tools, techniques, & model systems needed for AHC research
Emotion regulation (ER) and dysregulation (ED) impairment across the life span of AHC is an area that could improve the quality of life if better understood. This project seeks to explore the theoretical foundations and psychotherapy-based interventions that aim to improve emotional regulation in all people with AHC.
Support the Future of AHC Research – expanding awareness & research for the AHC community
AHC ECHO, or Extension for Community Healthcare Outcomes, is a program that will extend the impact of our amazing clinical network by empowering providers outside our existing community to begin building the skills they need to become the next generation of AHC experts. We will schedule quarterly meetings, led by an AHC specialist, for a discussion on the latest treatment protocols within their specialty with time for Q&A.
Dysfunction Correction – correcting the genetic cause of AHC
ASOs, Gene Editing & Gene Therapy are all aspects of translational research showing immense promise for our community. With current projects being coordinated by Mary Saladino, Nina Frost, and Dr. Mohamed Mikati, we look forward to supporting their efforts as funding opportunities become available.