Tag: AHC Gene Therapy

12th Symposium on ATP1A3 in Disease (14 – 15 Nov 2024) Barcelona, Spain

12th Symposium on ATP1A3 in Disease

Welcome to the 12th Symposium on ATP1A3 in Disease, a scientific meeting that traces its roots back to the seminal discovery of the ATP1A3 mutations in Alternating Hemiplegia of Childhood (AHC).

The inaugural symposium in Brussels in 2012 marked the beginning of a profound scientific journey for the AHC and ATP1A3 community. It served as a pivotal moment where researchers, clinicians, patients, and advocates came together to embark on a collective quest to understand ATP1A3-related diseases. Since then, the symposium has become a beacon of collaboration, attracting diverse perspectives and expertise from around the world.

Join us on 14-15 November 2024, as we gather for the first time in Spain at the historic Espai Modernista Sant Pau in Barcelona. Against the backdrop of this vibrant city, we’ll continue to explore the complexities of ATP1A3, from gene mutations to potential treatments, in an atmosphere of collaboration and shared purpose.

From Rome to Tokyo, from Chicago to Barcelona, each meeting has added layers of insight and momentum to our collective efforts. As we prepare for this latest chapter, we look forward to welcoming you. Your involvement is crucial to our shared mission.

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Programme:

This will be a hybrid event discussing the progress in understanding the basic science, developments in translational science – from ongoing treatments, including gene-based and pharmacological and functional treatments, to clinical trials for mouse models and biomarkers – and what matters for families.

Here is a taster of the programme topics that will be covered during this two-day conference. The full programme schedule will be released in the coming weeks.

Barcelona ATP1A3 Symposium

 

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More information can be found on the 12th Symposium on ATP1A3 in Disease website

14-15 November 2024, Barcelona. Spain 

Email: atp1a3.barcelona@aesha.org

New gene therapy gives hope

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood

Arsen S. Hunanyan, Boris Kantor, Ram S. Puranam, Courtney Elliott, Angela McCall, Justin Dhindsa, Promila Pagadala, Keri Wallace, Jordan Poe, Talha Gunduz, Aravind Asokan, Dwight D. Koeberl, Mai K. ElMallah, and Mohamad A. Mikati

Abstract

Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of delivering an extra copy of the normal gene in a mouse model carrying the most common mutation causing AHC in humans, the D801N mutation. We used an adeno-associated virus serotype 9 (AAV9) vector expressing the human ATP1A3 gene under the control of a human Synapsin promoter. We first demonstrated that intracerebroventricular (ICV) injection of this vector in wild-type mice on postnatal day 10 (P10) results in increases in ouabain-sensitive ATPase activity and in expression of reporter genes in targeted brain regions. We then tested this vector in mutant mice. Simultaneous intracisterna magna and bilateral ICV injections of this vector at P10 resulted, at P40, in reduction of inducible hemiplegia spells, improvement in balance beam test performance, and prolonged survival of treated mutant mice up to P70. Our study demonstrates, as a proof of concept, that gene therapy can induce favorable effects in a disease caused by a mutation of the gene of a protein that is, at the same time, an ATPase enzyme, a pump, and a signal transduction factor.