About the Event

CDKL5 Forum 2020 is the largest annual conference on the advancement of science and therapeutic development for CDKL5 Deficiency Disorder. The Forum, now in its sixth year, represents the flagship annual event of the CDKL5 Program of Excellence, established by the Loulou Foundation with the Orphan Disease Center of the University of Pennsylvania's Perelman School of Medicine to advance this objective. CDKL5 Forum 2020 is being held as an exclusively on-line live-streaming event, which will take place over three 6-hour sessions, from Monday 12th October through Wednesday 14th October 2020. A key mission of the CDKL5 Forum is to develop a community of collaboration and knowledge exchange, through stimulating peer-group discussion and brainstorming. As in past years, the Forum program will include breakout sessions for in-depth, active discussion; a networking room to virtually connect and communicate with other attendees; and a virtual poster session.

The Loulou Foundation continues to provide substantial funding for research into CDKL5 through the annual grant programme and directed research support, the priorities of which are determined each year at the CDKL5 Forum. Also this year we are again presenting the CDKL5 Forum "Awards for Excellence," which will be announced during a special session of this year's event.

We look forward to this year’s on-line CDKL5 Forum being as productive for our patient and research communities as they have been for the past five years.

A Look Back At Past Events

Agenda

11:00 AM - 1:00 PM GMT
7:00 AM - 9:00 AM EDT
Networking and Poster Session
1:00 PM - 1:55 PM GMT
9:00 AM - 9:55 AM EDT
Welcome Session
Opening remarks:
Majid Jafar Majid Jafar
Co-Founder
Loulou Foundation
Lynn Barghout Jafar Lynn Barghout Jafar
Co-Founder
Loulou Foundation

Voice of the Patient
Antonino Caridi Antonino Caridi
CDKL5 grandfather; Chair, CDKL5 Alliance

CDKL5 Forum Introduction
Daniel Lavery Daniel Lavery
Loulou Foundation
1:55 PM - 2:00 PM GMT
9:55 AM – 10:00 AM EDT
Break
2:00 PM - 2:50 PM GMT
10:00 AM - 10:50 AM EDT
Session 1: CDKL5 molecular and cellular mechanisms

Chair:

Massimiliano Bianchi Massimiliano Bianchi
Trinity College Dublin

Speakers:

Victor FaundezCDKL5-Deficiency Disorder (CDD) Biomarkers Discovery Through System Biology
Victor Faundez , Emory University
Brian RanesPreclinical tools for CDKL5 drug development
Brian Ranes, Amicus Therapeutics
Cleber TrujilloAltered network and rescue of human neurons derived from CDD individuals
Cleber Trujillo, University of California – San Diego

2:50 PM - 3:00 PM GMT
10:50 AM – 11:00 AM EDT
Break
3:00 PM - 4:15 PM GMT
11:00 AM - 12:15 PM EDT
Session 2: CDKL5 function in organelles and in the periphery

Chair:

Cecilia Lo Cecilia Lo
University of Pittsburgh

Speakers:

Navjot PablaRole of CDKL5 in acute kidney injury
Navjot Pabla, Ohio State University
Regina FaubelCDKL5 deficiency disrupts motile cilia generated flow in the brain
Regina Faubel, University of Pittsburgh
Simone DiGiovanniA novel role for CDKL5 in nociceptive signaling and pain
Simone DiGiovanni, Imperial College London
4:15 PM - 4:30 PM GMT
12:15 PM – 12:30 PM EDT
Break
4:30 PM - 7:00 PM GMT
12:30 PM - 3:00 PM EDT
Session 3: CDKL5 Function in Circuits and Behavior

Chair:

Peter Kind Peter Kind
University of Edinburgh

Speakers:

Zhaolan (Joe) ZhouTemporal Insights into CDKL5 Function
Zhaolan (Joe) Zhou, University of Pennsylvania

Oliver HardtThe Habitat – A new approach to phenotyping
Oliver Hardt, McGill University and University of Edinburgh
Patrick MulcaheyAged Heterozygous CDKL5 Mutant Mice Exhibit Spontaneous Epileptic Spasms
Patrick Mulcahey, University of Pennsylvania
Eric MarshEEG and Evoke potential as possible biomarkers in CDD
Eric Marsh, Children’s Hospital of Philadelphia
7:00 PM GMT
3:00 PM EDT
End of Day 1
11:00 AM - 1:00 PM GMT
7:00 AM - 9:00 AM EDT
Networking and Poster Session
1:00 PM - 1:15 PM GMT
9:00 AM - 9:15 AM EDT
Review of previous day’s highlights
Daniel Lavery Daniel Lavery
Loulou Foundation
1:15 PM - 2:15 PM GMT
9:15 AM - 10:15 AM EDT
Session 4: Gene therapy strategies

Chair:

Jim Wilson James Wilson
University of Pennsylvania

Speakers:

James WilsonCurrent challenges to viral-mediated gene therapy
James Wilson, University of Pennsylvania
Ralf SchmidDevelopment of CDKL5 gene therapy in a CDD mouse model
Ralf Schmid, University of Pennsylvania
Sharyl Fyffe-MaricichAAV9-hCDKL5 gene therapy leads to improvements in multiple preclinical models of CDD
Sharyl Fyffe-Maricich, Ultragenyx
2:15 PM - 2:30 PM GMT
10:15 AM - 10:30 AM EDT
Break
2:30 PM - 3:15 PM GMT
10:30 AM - 11:45 AM EDT
Session 5: Genome targeting strategies

Chair:

Kyle Fink Kyle Fink
University of California, Davis Health Center

Speakers:

Kyle FinkTargeted Epigenetic Editing using AAV-Split Cas9 to reactivate CDKL5 in mice and patient-iPSC
Kyle Fink, University of California, Davis Health Center
John SinnamonHarnessing an RNA editor to treat genetic disorders in the nervous system
John Sinnamon, Vollum Institute, OHSU
David LiuBase Editing and Prime Editing: Genome Editing Without Double-Strand Breaks
David Liu, Broad Institute
3:45 PM - 4:15 PM GMT
11:45 AM - 12:15 PM EDT
Keynote Lecture
Yann LeCam Thoughts on the progress in rare disease drug development: a father’s perspective
Yann LeCam
Founder and CEO, EURORDIS
4:15 PM - 4:30 PM GMT
12:15 PM - 12:30 PM EDT
Break
4:30 PM - 7:00 PM GMT
12:30 PM - 3:00 PM EDT
PANEL DISCUSSIONS

Readiness for Disease-Modifying Therapies for CDD: The CDKL5 Forum Translational Toolbox<

Panel discussion topics:

  1. Microtubule dynamics and function: the role of CDKL5
    A follow-up to the recent workshop identifying the key experiments needed to help define the role of CDKL5 in microtubule biology, and the possible link to CDD pathology.

    Moderators: Sila Ultanir, Francis Crick Institute;
    Massimiliano Bianchi, Trinity College Dublin
  2. Excitatory/inhibitory balance and CDKL5 function
    Recent evidence suggests a role of CDKL5 as a regulator of neuronal hyperexcitability. How can the mechanisms of this regulation be analyzed and potentially leveraged therapeutically?

    Moderator: David Wyllie, University of Edinburgh
  3. Behavioral phenotyping in CDKL5 ko animal models
    With the expanding use of behavioral assays to probe for reversal of functional deficits, the issues of best practices and consensus around robustness and reproducibility become even more important in pre-clinical discovery and therapeutic validation.

    Moderator: Rodney Samaco, Baylor College of Medicine
  4. Functional biomarker development and evaluation: the FxBM working group
    Moderator: Michela Fagiolini, Boston Children’s Hospital
  5. Strategies for clinical outcome measures and endpoint evaluation in CDD
    Moderator: Xavier Liogier, Loulou Foundation
7:00 PM GMT
3:00 PM EDT
End of Day 2
11:00 AM - 1:00 PM GMT
07:00 AM - 9:00 AM EDT
Networking and Poster Session
1:00 PM - 1:30 PM GMT
09:00 AM - 09:30 AM EDT
Review of previous day’s highlights and breakout summary
Daniel Lavery Daniel Lavery
Loulou Foundation
1:30 PM - 2:30 PM GMT
09:30 AM - 10:30 AM EDT
Session 6: Clinical development and trial readiness

Chair:

Omar Khwaja Omar Khwaja
Voyager Therapeutics

Speakers:

Christian CzechBiomarker strategy for clinical development in Rare Diseases: The Industry perspective
Christian Czech, Pfizer
Joni SabyEvoked potentials as translatable functional biomarkers in the clinic
Joni Saby, Children’s Hospital of Philadelphia
Dylan BrockCortical Visual Impairment Severity as a Potential Biomarker for Developmental Achievement in CDKL5-Deficiency Disorder
Dylan Brock, University of Colorado, Denver
Scott DemarestMultisite Validation of Biomarkers and Core Clinical Outcome Measures for Clinical Trial Readiness in CDKL5 Deficiency Disorder
Scott Demarest, University of Colorado, Denver
2:30 PM - 2:45 PM GMT
10:30 AM - 10:45 AM EDT
Break
2:45 PM - 4:00 PM GMT
10:45 AM - 12:00 PM EDT
Session 7: Clinical trial updates

Chair:

Orrin Devinsky Orrin Devinsky
NYU Langone Medical Center

Speakers:

Orrin DevinskyCurrent Clinical Management of CDD Children and Adults: Investigator-initiated trials
Orrin Devinsky, NYU Langone Medical Center
Ana MingoranceEndpoint enabling study in CDD
Ana Mingorance, Loulou Foundation
Julia TsaiResults from Phase 2 Open-label ARCADE Study and Long-term extension ENDYMION Study
Julia Tsai, Ovid Therapeutics
Alex AimettiResults of the Phase 3 Marigold Study Evaluating Ganaxolone in CDKL5 Deficiency Disorder
Alex Aimetti, Marinus Pharmaceuticals
4:00 PM - 4:10 PM GMT
12:00 PM - 12:10 PM EDT
Break
4:10 PM - 4:40 PM GMT
12:10 PM - 12:40 PM EDT
Keynote Lecture
Jeremy Levin Rare disease, clinical trials, and Covid-19 – a new world that needs new ideas
Jeremy Levin
CEO, Ovid Therapeutics; Chairman, BIO(2019)
4:40 PM - 4:50 PM GMT
12:40 PM - 12:50 PM EDT
Break
4:50 PM - 5:05 PM GMT
12:50 PM - 1:05 PM EDT
CDKL5 Alliance
Intro & Update
Rick Upp
Rick Upp
CDKL5 Alliance representative
5:05 PM - 5:15 PM GMT
1:05 PM - 1:15 PM EDT
Break
5:15 PM - 6:00 PM GMT
1:15 PM - 2:00 PM EDT
CDKL5 Forum Closing Session
CDKL5 Forum Awards
Majid Jafar Majid Jafar
Co-Founder Loulou Foundation
Lynn Barghout Jafar Lynn Barghout Jafar
Co-Founder Loulou Foundation

Summary, Open Discussion, and Closing remarks
Daniel Lavery Daniel Lavery
Loulou Foundation
6:00 PM GMT
2:00 PM EDT
Forum close