ESPE Connect Webinar Series - Prader-Willi Syndrome

These webinars offer high-quality scientific and educational content from world-leading paediatric endocrinologists. ESPE Connect will present the latest developments covering all areas of paediatric endocrinology that you can view whilst it’s broadcast live or ESPE Members can view on-demand after the webinar at their convenience.

Time: 16:00-17:30 (CEST) /15:00-16:30 (BST)

WEBINAR TOPIC: Prader-Willi Syndrome

Welcome and introduction - Professor Anne Rochtus (Leuven, Belgium) - ESPE Connect Webinar Convenor

Growth in Prader-Willi Syndrome and the effects of GH treatment – Professor Anita Hokken-Koelega (Rotterdam, The Netherlands) - Immediate Past President of ESPE

Behaviour in Prader-Willi Syndrome – Professor Anthony Holland (Cambridge, UK) - Immediate Past President of IPWSO

Drug and device trials in Prader-Willi Syndrome – Dr Theresa Strong (Alabama, USA) - Director of Research Programs, Foundation for Prader-Willi Research

Panel Discussion - All faculty

Webinar Close - Professor Anne Rochtus

Each talk will be 20 minutes with Q&A for all speakers taking place during the panel discussion.

This webinar is very kindly supported through a medical education grant from Soleno Therapeutics Europe.

MEET THE SPEAKERS

Professor Anita Hokken-Koelega (Rotterdam, The Netherlands)

Professor Anita Hokken-Koelega is pediatric-endocrinologist in the Erasmus University Medical Center, Rotterdam, The Netherlands and director of the Dutch Growth Research Foundation. She published > 400 papers in peer-reviewed international journals. Her current research focuses on early life origins of adult health and disease (DOHAD), the effects of endocrine disrupting chemicals (EDCs) on the development and health of children and adolescents, and rare growth disorders.

She stepped down as the President of the European Society for Paediatric Endocrinology (ESPE) this September after fulfilling the role as President since 2019.

Professor Anthony Holland (Cambridge, UK)

Tony Holland qualified in medicine from London University in 1973. From 2002 until 2017 he held the Health Foundation Chair in the Psychiatry of Intellectual Disability in the Department of Psychiatry, University of Cambridge leading the interdisciplinary Cambridge Intellectual and Developmental Disabilities Research Group. Together with colleagues he has undertaken extensive research into Prader-Willi Syndrome with a focus on the hyperphagia, and the behavioural and mental health aspects of the syndrome. He continues as an advisor to an on-going programme of research at the University of Cambridge led by Dr Stephanie Brown. In 2015 he was elected a Fellow of the UK Academy of Medical Sciences. He was President of the International PWS Organisation from 2016 to 2025 and is Patron of the UK PWS Association.

The aim of the talk is to provide an insight into what has been called the 'behavioural and neuropsychiatric phenotype' of PWS'. In addition to the hyperphagia, severe emotional outbursts, skin picking, and repetitive and ritualistic behaviours are common, as is mood instability, mood disorders and, particularly in those with the maternal disomy form of PWS, psychotic illness. The underlying biological mechanisms predisposing to such behaviours and to mental ill-health and the role of environmental factors will be considered. Interventions require an understanding of the interactions between these biological factors, associated cognitive impairments, and the impact of environmental factors.

Learning Objectives:

1. To develop an understanding of the behavioural and neuropsychiatric phenotype of PWS

2. To have an understanding of the underlying causal mechanisms

3. To use this knowledge to inform interventions in clinical practice

Dr Theresa Strong (Birmingham, Alabama, USA)

Theresa Strong, PhD, is a co-founder and Director of Research Programs at the Foundation for Prader-Willi Research (FPWR, www.fpwr.org), a nonprofit organization that supports research to advance the understanding and treatment of Prader-Willi syndrome (PWS). Theresa has a PhD in genetics and led a gene therapy research lab as a Professor at the University of Alabama at Birmingham (UAB), prior to transitioning to a full-time position at FPWR. She remains a Volunteer Adjunct Professor at UAB. At FPWR, she directs the grant program, leads the PWS Clinical Trials Consortium and is principal investigator for the Global PWS Registry. She is also active in the broader patient advocacy community, serving on the steering committee of the Clinical Trials Transformation Initiative (CTTI) and having served as a member of the US Food and Drug Administration (FDA) Patient Engagement Collaborative. She has four young adult children, including a son with PWS.

Talk Description:

This segment of the webinar will provide an overview of the current drugs and devices that are in development to treat the most challenging aspects of Prader-Willi syndrome (PWS). The unmet needs of the population and the complexities of performing clinical trials in those with PWS will be discussed.

Learning objectives:

Identify the unmet medical needs of the PWS population

Understand the current state of medical product development for PWS

Recognize the challenges in conducting PWS clinical trials