Rome Symposium Synopsis

Rome Symposium Synopsis


Synopsis of 2nd Symposium on ATP1A3 in Disease
The weather was perfect, the atmosphere was one of collaboration and excitement, and there was much to celebrate at the Second Symposium on ATP1A3 in disease 23 -24 September 2013 in the Policlinics “A. Gemelli”, at the Catholic University School of Medicine, Rome, Italy. Many thanks to Giovanni Neri and David Goldstein for chairing the conference from the research perspective & the Italian AHC Association (particularly Rosaria Vavassori & Filippo Franchini) for coordinating the highly successful and smoothly operated event.

Here are some of the highlights of what transpired. Please note that because there is ongoing research, and much of what was shared at the conference is unpublished, we cannot elaborate on the comments here. Kudos to Dr. Mikati for his assistance to make this informative yet compliant.

On Monday, September 23rd

  • Lecture by Dr. Mohamad Mikati discussing Clinical outcome measures and biomarkers for AHC patients that would be used in designing future therapeutic studies of AHC
  • Lecture by Alexis Arzimanoglou and Eleni Panagiotakaki on the International collaborative group on genotype/phenotype correlations findingsPic 1 Symposium writeup
    • Indicating that some gene mutations are more likely to have a better outcome than others.
    • Thus, clinical studies for therapies in the future have to take that into consideration
  • Dr. Kathy  Swoboda talked about catastrophic outcomes in AHC: an overview of clinical features and neuropathologic findings from their database
  • Masayuki Sasaki about Genotype/phenotype correlation in Japanese patients with AHC
  • Dr. Giuseppe Gobbi on the Natural history of AHC in Italian patients.
    • All these studies confirmed that there is a range of severity and degrees of complications which can be found in some but not all the AHC patients
    • This provides hope for better prognostication and better anticipation of potential problems.


  • Dr. Hendrik Rosewich provided a brief genetic update on AHC and RDP
  • Dr. Allison Brashear presented how imaging and pathology results provide potential insights in Rapid Onset Dystonia Parkinsonism syndrome..
  • Poster session that presented some of cutting edge work in several countries including the host country Italy as well as the initiation of the first multidisciplinary AHC clinic at Duke University.

Pic 3 Symposium writeup

  • Dr. Erin Heinzen presented the recent insights into the genetics of AHC and the plans to start a system of screening medications through the use of cultured neuronal cells that have the same human mutations.
  • Dr. Poul Nissen presented Structural and biochemical studies addressing the AHC mutations that are being used to help identify drugs that can favorably affect the ATP1A3 function thus possibly representing potential future therapies.
  • Dr. Hanne Poulsen reviewed the physiological studies of sodium pump mutants that can also potentially lead to similar approaches.Pic 5 Symposium writeup

The final session of the first day chaired by Dominque Poncelin discussed the role of Institutions and Patients’ Associations in the support of the Collaborative Research on AHC


  • Fracesca Sofia provided an overview of the role of the Telethon Italy and the alliance with the patients in the support to the research on rare genetic diseases,
  • Cure AHC Co-Founder &  President Jeff Wuchich delivered the Message from the AHC Families Worldwide
  • Lynn Egan described the International Patient Alliance AHCIA,
  •  Sigurdur Hólmar Johannesson presented on the European Federation AHCFE,
  • Tsveta Schyns detailed the European Network for Research on Alternating Hemiplegia, ENRAH and its ten years of facilitating clinical and basic science research on AHC

On Tuesday, September 24th
The morning session emphasized mouse models of ATP1A3 disease.     Pic 7 Symposium writeup

  •  Dr. Steven Clapcote discussed the myshkin mouse,
  • Dr Karin Lykke Hartmann, the a knock-in mouse model for RDP/AHC
  • Dr. Mohamad Mikati the knock-in mouse model which has the two most common mutations seen in humans with AHC . He also covered why a mouse model is important and how one is created.
  • Dr. Steven Petrou described his work on oocyte modeling of ATP1A3 mutations which is being used to understand the physiology and screen for therapies
  • Dr. Kathy Sweadner presented structure-function studies and symptoms in a mutant mouse.
  • All these studies hold promise that when potential drugs are identified there will be ample room to try them first on relevant mouse models. Each of these mouse models is looking at the diseases from different aspects, so there is not duplication.

In the session that followed additional basic science studies were presented, each emphasizing a particular ATP1A3 pathway that could potentially be modified as a target for future therapies. This was some of the heaviest and most technical of the research presentations, often a bit challenging for a layperson to understand, but clearly innovative in their foci and promising for directing the screening ideas for compounds to treat/cure AHC

Pic 6 Symposium writeup.jpg

  •  Dr. Paolo Manuta presented work on Endogenous Ouabain and ATPase: possible implications for Rostafuroxin,
  • Dr. Alexander Chibalin discussed  AMPK activators as potential candidates to the treatment of AHC
  • Dr. Jan Koenderink on Binding of digitalis-like compounds to Na,K-ATPase .

The final session, chaired by Dr. Federico Vigevano, was on the subject of clinical trials

  •  Dr. Tiziana Granata  framed the discussion with a talk entitled Are we ready for clinical trials?
    • Covered the necessary elements to a successful clinical trial
    • Noted criteria needed to be ready to begin
  • Lively discussion by Drs. Mohamad Mikati, Eleni Panagiotakaki, Masayuki Sasaki, Paolo Manunta, Jan Koenderink, Alexander Chibalin, and others, discussed the guidelines for future studies

 The symposium was then concluded by Dr. David Goldstein and Rosaria Vavassori

  •  Emphasized the importance of free exchange of information and of international collaboration
  • It was also agreed to continue the current collaboration on additional projects
    • Specifically one addressing pathological changes and the other modifying gene effects
    • Ongoing genotype-phenotype project.
  • It was also agreed that then third ATP1A3 meeting will be held in the Netherlands during the week of September 1st 2014.

Cure AHC is proud to have been a charter member of the Organizing Committee, to have partnered with Duke University & Harvard University for this event (and for ongoing research), and to have been part of the presentations and collaborative conversations. We are excited to see the AHC International Alliance of Associations come to life. We will continue to do our best to push forward in partnership with the Alliance members to get to the cure for AHC.

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