Rett Syndrome Research Trust's Genetic Medicines Summit Sets the Stage for Accelerated Therapeutic Development

Trumbull, CT – The Rett Syndrome Research Trust (RSRT) is delighted to announce the successful conclusion of the inaugural Rett Syndrome Genetic Medicines Summit, held September 13 – 15 in Boston, Massachusetts. This landmark event gathered distinguished scientists, clinicians, regulatory experts, and over 40 leading biopharma companies. The goal of the Summit was to foster dialogue among scientific, clinical, industry, and regulatory stakeholders to facilitate collaboration, identify best practices, and refine expectations to expedite pre-clinical and clinical development programs focused on genetic medicines for children and adults with Rett syndrome.

Key Highlights of the Summit:

Day 1: Fundamental Insights and Pre-clinical Tools The first day of the Summit centered on the fundamental science of MECP2 and available and emerging pre-clinical tools, setting the stage for a deeper understanding of the molecular mechanisms underlying Rett syndrome and discussion of scientific resources to facilitate IND-enabling studies.

Adrian Bird, PhD, a distinguished scientist and luminary in the field, gave a keynote address focused on understanding the molecular basis of Rett syndrome. Experts in the field shared research findings and novel available tools, laying the groundwork for further exploration and therapeutic development.

Contributions from the Center for Biologics Evaluation and Research (CBER) at the U.S. Food and Drug Administration (FDA) revealed the agency’s approach to evaluating IND submissions in a robust panel discussion moderated by Philip (PJ) Brooks, Deputy Director of the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences at the National Institutes of Health.

Day 2: Exploring Genetic Medicine Modalities and the Evolving Regulatory Landscape The second day of the summit delved into various genetic medicine modalities, including gene therapy, DNA base editing, prime editing, RNA editing, MECP2 reactivation and transfer RNA. Sukumar Nagendran, MD, President of Taysha Gene Therapies, presented encouraging data on the first patient treated with their Rett syndrome gene therapy. Stuart Cobb, PhD, Chief Scientific Officer of Neurogene provided an update on the company’s gene therapy clinical trial.

Distinguished speakers, including David Liu, PhD, from the Broad Institute at MIT and Harvard University and co-founder of numerous biotech companies, spoke on the future of base and prime editing and their application in treating genetic diseases.

Peter Marks, MD, the Director of CBER at FDA and prominent figure in the field of regulatory science presented on the evolving regulatory landscape for biologic therapeutics in orphan diseases. A panel discussion focused on agency expectations, accelerated approval requirements, and other key elements of successful development programs was moderated by Frank Sasinowski, MS, MPH, JD, a regulatory affairs and drug development expert and Director at Hyman, Phelps & McNamara, P.C.

Day 3: Advancements in Clinical Development Tools The final day of the summit focused on novel clinical development tools, encompassing outcome assessments, digital biomarkers, and RSRT's CURETT initiative. Day 3 opened with a keynote address from renowned physician scientist, Huda Zoghbi, MD, who spoke on modulating MECP2 levels for a novel therapeutic approach.

Lindsey Murray, MPH, PhD, Executive Director, Rare Disease Clinical Outcome Assessment (COA) Consortium at the Critical Path Institute, and Christopher Leptak, MD, PhD, Executive VP of Drug and Biological Products at Greenleaf Health, moderated panels on COAs and digital biomarkers. The discussions provided insights on how best to implement fit-for-purpose and adapted COAs in Rett, and demonstrated the latest advances in objective digital measures including EEG, wearable and invisible sensors, and how these measures track with clinician-reported disease severity scales.

Nasha Fitter, VP of Patient Data Platform, Ciitizen moderated the real-world data session with presentations on the Ciitizen platform and RSRT’s CURETT initiative. CURETT is a parent-powered initiative to Combine Untapped Resources to Expedite Targeted Therapeutics by consolidating medical records and parent-reported datasets for use in therapeutic development with promising potential to serve as an external control for Rett syndrome development programs.

RSRT’s Rett Syndrome Genetic Medicines Summit underscores the organization's unwavering commitment to curing Rett syndrome. Uniting the scientific and biotechnology communities and facilitating knowledge exchange is key to achieving that. "We are deeply encouraged by the unprecedented collaboration among scientists, clinicians, and industry leaders that unfolded during these three remarkable days that will lead to efficiencies in development and regulatory interactions,” said Monica Coenraads, RSRT’s CEO. “Together, we are poised to make major strides to expedite clinical development and transform the lives of those with Rett."

The Rett Syndrome Research Trust extends its gratitude to all the participants, speakers, moderators, panelists and sponsors who contributed to the success of the inaugural event. The exciting progress in the field and overall success of the meeting would not have occurred without RSRT’s generous supporters and the fundraising efforts of Rett families. RSRT remains steadfast in its mission to accelerate the development of genetic therapies and ultimately find a cure for Rett syndrome.

For more information on the Rett Syndrome Genetic Medicines Summit please visit the meeting webpage.