PB0537 - Development of novel gene editing lexicon for hemophilia: methodology and results

Monday, June 24, 2024

13:45 – 14:45 ICT

Room: Exhibition Hall

Presenting Author(s)

CK

Craig M. Kessler

Professor of Medicine and Pathology
Georgetown University
Washington, District of Columbia, United States

Co-Author(s)

AD

Amy L. Dunn

Director of Pediatric Hematology and directs the Hemophilia Treatment Center
Division of Hematology, Oncology and BMT, Nationwide Children’s Hospital and The Ohio State University College of Medicine
Columbus, Ohio, United States
LV

Leonard A. Valentino

President & Chief Executive Officer
National Bleeding Disorders Foundation
New York, New York, United States
CT

Courtney D. Thornburg

Professor of Clinical Pediatrics; Medical Director of the Hemophilia and Thrombosis Treatment Center
University of California San Diego
La Jolla, California, United States
CU

Carmen Unzu

Principal Investigator (Gene Therapy)
DNA&RNA Medicine Division. CIMA-Universidad de Navarra, IdisNA
Pamplona, Navarra, Spain
MK

Mark A. Kay

Dennis Farrey Family Professor
Stanford University
Stanford, California, United States
Flora Peyvandi, MD, PhD

Full Professor
Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Università degli Studi di Milano, Department of Pathophysiology and Transplantation
Milan, Lombardia, Italy
PS

Penni Smith

Bleeding Disorders Program Coordinator/Nurse Navigator
Utah Center for Bleeding and Clotting Disorders
Salt Lake City, Utah, United States
Wolfgang Miesbach, MD

Professor and Head of Coagulation Disorders and Comprehensive Care Centre
University Hospital Frankfurt, Frankfurt, Germany
Frankfurt, Hessen, Germany
WM

William McKeown

Specialist Registrar in Care of the Elderly and Stroke Medicine
Care of Elderly Medicine, Antrim Area Hospital
Antrim, Northern Ireland, United Kingdom
Glenn F. Pierce, MD PhD

World Federation of Hemophilia/Consultant
World Federation of Hemophilia/Consultant
La Jolla, California, United States
KK

Kate Khair

Director of Research
Haemnet
London, England, United Kingdom
KS

Katarina Starcevic

Vice President
Maslansky and Partners
New York, New York, United States
MP

Monisha Pillai

Senior Language Strategist
Maslansky and Partners
New York, New York, United States
MJ

Micheala Jones

Lead, Global Medical Affairs Director, Hemophilia B Gene Therapy and Thrombosis
Regeneron Pharmaceuticals, Inc.
Tarrytown, New York, United States
LW

Lauren Whyte

Scientific Writer
Regeneron Pharmaceuticals, Inc
Tarrytown, New York, United States
DG

David E. Gutstein

Vice President, Strategic Program Direction – Hematology Translational & Clinical Sciences
Regeneron Pharmaceuticals, Inc.
Tarrytown, New York, United States
IA

Ilia Antonino

Sr. Director, Medical Affairs
Intellia Therapeutics, Inc.
Cambridge, Massachusetts, United States
Cedric Hermans, MD, FRCP, PhD

Head of the Division of Haematology, the Hemostasis and Thrombosis Unit, and the Hemophilia Center
Saint-Luc University Hospital
Saint-Luc, Brussels Hoofdstedelijk Gewest, Belgium
Steven W. Pipe, MD

Professor of Pediatrics and Pathology
University of Michigan
Ann Arbor, Michigan, United States

Background: CRISPR/Cas9-based targeted gene editing platforms are being developed as treatments for genetic diseases like hemophilia, and involve complex concepts and terminology. An aligned language for such novel therapeutic technologies is critical for building a clear and cohesive narrative among the hemophilia community. A globally-aligned gene editing lexicon is being developed to address this unmet need.

Aims: To develop an inclusive, easily understood, and credible lexicon while avoiding overpromising or overly complex terminology.

Methods: Using an innovative approach involving partnership between representatives from major hemophilia organizations, initial insights were gathered through stakeholder interviews, workshops, and an analysis of existing gene editing language within hemophilia patient advocacy groups and scientific organizations. Qualitative research was then conducted in the US, UK, and DE with lived experience experts (people living with hemophilia and their loved ones, n=43), and hematologists (n=24) to build the lexicon which was finalized with guidance from global experts in the hemophilia field.

Results: Key learnings from this study include: insights on stakeholder mindsets, guiding language principles, and well-considered language for key topics. The findings on stakeholder mindsets revealed that gene therapy and gene editing evoke different associations: while there is cautious optimism around gene therapy, there is more skepticism around gene editing. The findings on guiding language principles indicated a preference for plainspoken over technical language, definitions linked to patient benefits, and explanations anchored to precision to build confidence. Important topics to build language around included descriptions of gene editing, gene insertion, and delivery of genetic material, and messaging on topics like post-treatment follow-up, scientific unknowns, and whether the treatment effects are passed down to children.

Conclusion(s): Outcomes from this study provided a strong foundation for the development of this novel gene editing lexicon which is ready for beta testing. Given its collaborative, hemophilia community-centric approach, this lexicon is well-poised for wide adoption.