International Virtual Family Conference Agenda

This year the CDKL5 Alliance is pleased to present the International Virtual Family Conference on Saturday, June 19th, 2021. The conference will be ‘a la carte’ in the sense that you will be able to visit the website and pre-recorded presentations from the speakers outlined in the agenda below. You can watch any or all of the presentations, and will have the luxury of re-visiting these presentations in the future.

All presentations will be in English with subtitles available in Spanish, Italian, French, German, Russian and Japanese. You will have the opportunity to ask questions after watching these presentations on the 19th and answers will be posted within 2-3 weeks on the Alliance website.


Welcome & Introduction

Patric Benz (President of the CDD Swiss National Association)


Research Updates

Prof. John Rouse (University of Dundee, UK)

  • Investigating CDKL5 function and the rebalancing of CDKL5 deficiency disorders

Prof. Elisabetta Ciani (PhD Associate Professor of Physiology Dept. Biomedical and NeuroMotor Sciences .University of Bologna)

  • Innovative Strategy to enhance the efficiency and safety of gene therapy for CDD

Prof. Ralf Schmid (Research Director, Gene Therapy Program, University of Pennsylvania)

  • Recent research advances in developing a CDKL5 gene therapy

Medical Updates

Prof. D. Battaglia (MD, PhD, Fondazione Policlinico Universitario A.Gemelli IRCCS – Catholic University of Sacred Heart – Rome)

  • Epilepsy management in CDD

Prof. Tim Benke (MD,PhD,Colorado Children Hospital and University of Colorado School of Medicine)

  • Symptom management in CDD:  A to Z

CDD Community Study

Dr. Xavier Liogier d’Arduy (Chief of translational Science LouLou Foundation)

  • How to optimize drug development for CDD?

International Registry  

Femida Gwadry-Sridhar (Pulse Co.) and Dr. Helen Leonard (Telethon Kids Institute Australia)

  • What is an International Registry and why is it important?

Living with CDD

Robyn Allen (Certified physiotherapist, trained in hippotherapy)

  • Hippotherapy: an effective therapeutic tool for children with CDKL5

Carol-Anne Partridge (President of CDKL5 UK)

  • It doesn’t just affect me – understanding impact of trauma, a family perspective

Reini Linder (Certified Physiotherapist and Snow Sports Instructor)

  • Skiing experience for CDKL5 children with the “Dualski”

Pharmaceutical Presentations: Advancements in CDD

Zogenix, Torbjorn Waerner (VP Medical Affair Europe)

  • Zogenix: our commitment to developing new treatments for Patients living with rare diseases.

Ultragenyx, Sharyl Fyffe-Maricich PhD (Executive Director Molecular and Cellular Biology, Research)

  • Preclinical Evaluation of AAV9-CDKL5 Gene Therapy in Models of CDKL5 Deficiency Disorder

Marinus, Alex Aimetti (VP Scientific Affairs) & Mr. Ian Miller (VP Clinical Development)

  • Investigational Drug Ganaxolone for CDKL5 Deficiency Disorder – Advancing the Treatment Paradigm

Amicus, Brian Ranes (Scientific Target Lead for CDD)

  • Preclinical drug development: an overview


General Organisation and Progress of the CDKL5 Alliance

Antonino Caridi (CDKL5 Alliance Chair, International Relations for CDKL5 Italy)

  • General remarks

Natalie Ladly (CDKL5 Alliance Secretary, Fundraising Chair for CDKL5 Canada)

  • Organization Running

Carol-Anne Partridge (CDKL5 Alliance, CDKL5 UK Chair)

  • Media Management