Conference Programme

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Programme

10-year anniversary Conference Alternating Hemiplegia of Childhood and ATP1A3 diseases

and

10th Symposium on ATP1A3 in disease 2022

Adam Ling
Adam Ling

Hybrid: Edinburgh and online

19th-21st October 2022

Royal College of Physicians Edinburgh,

9 Queens Street

Times shown are British Summer Time (BST)

Join in with the conversation:

Twitter @10YearsATP1A3

#10YearsATP1A3 

 

Wednesday 19th October 2022 

Day 1: The Past – AHC and APT1A3, the last 10 years 

 

09:00-09:50 

Registration and coffee for delegates and speakers 

Main Foyer in Conference Centre 

09:00-09:30 

Opportunity for families to gather in person and discuss priorities for next 3 days 

Meeting room 1/2 

09:50  

Opening of 3-day event 

Lecture Theatre   

 
Session 1.  

Alternating Hemiplegia of Childhood (AHC) and ATP1A3: an overview 

Chair: Professor Sanjay Sisodiya 

Lecture theatre and online  

10:00  

Welcome by organising committee.  A reminder of why we are all gathering – focus on those with the lived experience of Alternating Hemiplegia of Childhood & ATP1A3 diseases 

Katherine Behl, AHC UK and Conference organising committee 

10:10 

Keynote presentation 

ATP1A3 disease –phenotypic description to gene discovery 

Plenary talk discussing the basic science perspective of the gene discovery  

Professor Kathleen Sweadner, Harvard University  

10:40  

The evolving clinical spectrum of AHC and related conditions 

Professor Hendrik Rosewich, University Medical Center, Goettingen 

11:00 

What is the role of ATP1A3? 

Professor Poul Nissen, Aarhus University 

11:20 

Panel discussion  

 
11:30-11:45 Coffee break, poster viewing and networking  

Main Foyer in Conference Centre  

 
Session 2:  

The development of animal models in the study of ATP1A3 diseases – what can they tell us? 

Chair: Professor Arn Van den Maagdenberg 

Lecture theatre and online  

11:45 

State of the art historical overview on animal (mouse) models of ATP1A3-related disorders   

Dr Steve Clapcote, University of Leeds 

12:00 

Development of a drosophila (fruit fly) model of AHC  

Ms Jennifer Ogbeta, University of Leeds 

12:15 

TBC 

12:30 

Panel discussion  

 
12:40-14:00 Lunch, poster viewing and networking 

Main Foyer, Conference Centre  

 
Session 3:  

Collaborative science – the AHC and ATP1A3 community and what it has brought 

Chair: Johanna Brown 

Lecture theatre and online  

14:00 

Lived experience of AHC and ATP1A3 diseases  

TBC  

14:05 

The diagnostic criteria of AHC and ATP1A3 diseases 

Professor Mohamed Mikati, Duke University  

14:25 

What does it mean to have a ‘broken’ ATP1A3 pump? 

Professor Arn Van den Maagdenberg, Leiden University Medical Centre  

14:45 

Panel discussion  

 
14:55-15:15 Coffee break, poster viewing and networking 
 
Session 4: 

Moving forwards towards new nosology and classification 

Chair: Katherine Behl 

Lecture theatre and online 

15:15 

Day in the life of a parent……predictably unpredictable 

Johanna Brown, AHC UK and Conference Organising Committee 

15:30 

Debate: What’s in a name?  How should AHC be named and classified for families, clinical practice, and research? 

Professor Sanjay Sisodiya 

Professor Hendrik Rosewich 

16:10 

Panel discussion 

16:20-16:30 

Learning points from the day 

Closure 

 

16:30: Optional tour (TBC) 

18:00: Optional visit (TBC) 

 

Thursday 20th October 2022 

Day 2: AHC & ATP1A3 diseases – where are we now, and where are we going? 

 

08:00-08:30 

Registration and coffee for delegates and speakers 

Main Foyer in Conference Centre 

08:25 

Opening of Day 2 – Lived experience of AHC and ATP1A3 diseases 

Lecture theatre and online 

 
Session 1:  

Sharing current research on AHC and ATP1A3 diseases: the life-course clinical perspective 

Chair: Dr Ailsa McLellan 

Lecture theatre and online  

08:30 

Why are natural history studies crucial for understanding the disease and potential future treatments?  Learning from other rare conditions 

Professor Andreas Brunklaus, University of Glasgow 

08:50 

Addressing the genotype-phenotype correlation in AHC and ATP1A3 diseases 

Dr Katerina Vezyroglou, Great Ormond Street Hospital, University College London  

09:10 

ATP1A3 mutations cause polymicrogyria 

Professor Renzo Guerrini, University of Florence 

09:30 

Transition from childhood to adulthood 

Dr Eleni Panagiotakaki, University Hospitals of Lyon  

09:50 

AHC – a lifelong disease.  Long-term follow-up of adults with AHC 

Dr Marco Perulli, Catholic University of The Sacred Heart, Rome 

10:10 

Panel discussion  

 
10:20-10:35 Coffee break, poster viewing and networking  

Main Foyer in Conference Centre  

 
Session 2:  

Key dilemmas for clinicians, researchers, and families  

Chair: Dr Aikaterini Vezyroglou 

Lecture theatre and online  

10:35 

How do we prevent delay in a diagnosis of AHC and ATP1A3 diseases? 

Dr Ailsa McLellan, Royal Hospital for Children & Young People, Edinburgh 

10:55 

Sleep issues in AHC and ATP1A3 diseases 

Dr Simona Balestrini, University College London and University of Florence 

11:15 

Treatment complexities in AHC and ATP1A3 diseases: dystonia management 

Professor Manju Kurian, Great Ormond Street Hospital, University College London  

11:35 

Treatment complexities in AHC and ATP1A3 diseases: Flunarizine – to use or not to use? 

Professor Masayuki Sasaki, Tottori University Japan 

11:55 

How can we create a clinical trial for AHC and ATP1A3 diseases? Learning from other rare diseases 

Professor Stéphane Auvin, Université de Paris 

12:15 

Panel discussion  

 
12:25-13:35 Lunch, poster viewing and networking 

Main Foyer, Conference Centre  

 
Session 3:  

Back to the lab 

Chair: Dr Steve Clapcote  

Lecture theatre and online  

13:35 

Rescue of Na2+/K+-ATPase mutational effects by secondary mutation: Perspective for future pharmaceutical intervention in ATP1A3 neurological disease 

Professor Bente Vilsen, Aarhus University  

13:55 

Molecular mechanisms behind symptoms in ATP1A 3 and 1 mutations 

Professor Anita Aperia, Karolinska Institutet  

14:15 

ATP1A3 expression: spinal cord/motor function 

Professor Gareth Miles, University of St Andrews  

14:35 

Updates from the TREAT AHC research study: what drugs are being tried? 

Dr Danilo Tiziano, Catholic University of the Sacred Heart, Milan 

14:55 

Possible future therapeutic target? The γ-Benzylidene Digoxin Derivative BD-15  

Dr Leandro Barbosa, Universidade Federal de São João del-Rei  

15:15 

Panel discussion 

 
15:15-15:30 Coffee break, poster viewing and networking 
 
Session 4: 

AHC and ATP1A3 diseases: many facets, many needs  

Chair: Professor Helen Cross 

Lecture theatre and online 

15:30 

Introduction: The value of the Multi-Disciplinary Team (MDT)  

Professor Helen Cross, Great Ormond Street Hospital, University College London 

The need for an MDT to manage AHC – how should this be composed? 

Discussion from clinicians involved in MDT management of AHC and ATP1A3 diseases on how different specialties can feed into the MDT at a local and national level  

15:40 

Cardiology, Professor Juan Kaski, Great Ormond Street Hospital, University College London 

15:50 

Gastroenterology, Professor Mohamed Mikati, Duke University  

16:00 

Speech and Language therapy, Mr Steven Rose, Great Ormond Street Hospital, London 

16:10 

Physiotherapy, Dr Agnieszka Stępień, University of Physical Education, Poland  

16:20 

Community Paediatrics/holistic palliative care, Dr Helen Aspey, Great North Children’s Hospital, Newcastle 

16:30 

Pain Medicine, Dr Suellen Walker, Great Ormond Street Hospital, University College London 

16:40 

Respiratory, Dr Don Urquhart, Royal Hospital for Children & Young People, Edinburgh 

16:50 

Psychiatry, Dr Boris Chaumette, Reference Center for Rare Psychiatric Diseases Paris 

17:00 

Panel discussion: Standard of care of AHC patients and development of clinical consensus for AHC/ATP1A3 diseases 

17:20-17:30 

Learning points from the day 

Closure 

 

19:00: Scottish Welcome and Drinks reception in the New Library, Royal College of Physicians of Edinburgh 

 

19:20: Formal three-course dinner in the Grand Hall, Royal College of Physicians of Edinburgh 

 

22:00-00:00: Scottish Ceilidh 

 

Friday 21st October 2022 

Day 3: The Future for AHC/ATP1A3 diseases, clinical practice, and research 

 

08:30-08:55 

Registration and coffee for delegates and speakers 

Main Foyer in Conference Centre 

08:55 

Opening of Day 2 – Lived experience of AHC and ATP1A3 diseases 

Lecture theatre and online 

 
Session 1: Driving forward research and understanding in rare diseases: how can patients and families be involved? 

Chair: Katherine Behl 

Lecture theatre and online  

09:00 

Good Diagnosis: Improving the experience of diagnosis for people with rare conditions 

Ms Natalie Frankish, Genetic Alliance UK  

09:20 

Patient-driven registries 

Ms Isabella Brambilla, epiCARE patient rep and Dravet Syndrome registry co-ordinator 

09:40 

How to engage patients for faster transfer of research results to clinical practice 

Dr Francesca Sofia, International Bureau of Epilepsy 

10:00 

Panel discussion 

 
10:10-10:30 Coffee break, poster viewing and networking  

Main Foyer in Conference Centre  

 
Session 2:  

Moving forwards: clinical trials  

Chair: Dr Simona Balestrini 

Lecture theatre and online  

10:30 

A clinical scale for AHC/ATP1A3 clinical trials  

Dr Elisa de Grandis, University of Genoa  

10:50 

CBD in context in the management of rare epilepsies.  

Professor Finbar O’Callaghan, Great Ormond Street Hospital, University College London 

11:10 

Panel discussion 

 
Session 3:  

Moving forwards: gene therapy strategies 

Chair: Professor Arn Van Den Maagdenberg 

Lecture theatre and online  

11:20 

Learning from other neurological diseases – progress in gene therapy 

Professor Mimoun Azzouz, University of Sheffield 

11:40 

AAV9-mediated ATP1A3 gene therapy: an update  

Professor Cat Lutz, Jackson Laboratory   

12:00 

ATP1A3 gene editing: Using CRISPR for ATP1A3 diseases 

Mr Alexander Sousa, Harvard University   

12:20 

Antisense oligonucleotide therapy: a possible target for AHC/ATP1A3 diseases 

Professor Al George, Northwestern University  

12:40 

Panel discussion   

 
12:50 

Prize for best poster 

12:55 

Closure of conference, summary and key highlights of the conference and consensus on targets for future research 

Summary by researcher, clinician, and patient organisation representative  

 
13:10 

Lunch 

Main Foyer, Conference Centre