2025 Leigh Syndrome Symposium Agenda
(All times listed are Eastern Time)
-
TIME
Eastern TimeAGENDA
10:00am Introduction • Kasey Woleben, Executive Director, President and Co-Founder, Cure Mito
10:10am Where Medicine Meets Motherhood: Navigating Intuition and Intervention • Lauren Ashwin, Parent
A personal journey through parenting a child with a rare disease, evolving technology, and the daily choices that blend clinical care with a mother’s instinct. This talk shares how one family balances science and soul, navigating advanced interventions with intuition and hope for the future.
10:25am Developing a gene therapy for MTATP6-Leigh syndrome • Qinglan Ling, PhD, Assistant Professor, Umass Chan Medical School
Dr. Ling will present the design and preliminary data on a novel gene therapy strategy developed for patients with MTATP6 m.8993T>G mutation.
10:40am Steps to Initiate a SURF1 Gene Therapy Clinical Trial • Steven Gray, PhD, Professor, UT Southwestern Medical Center
Dr. Gray will discuss the latest developments in the effort to develop a gene therapy treatment for SURF1-related Leigh Syndrome. This will be followed by an overview of the steps to take a lead candidate through IND-enabling studies and into a first-in-human clinical trial.
10:55am Role of Mitochondria in Primary Mitochondrial Diseases • Sundeep Dugar, PhD, Co-founder, BlueOakNx, Inc.
Dr. Sundeep Dugar, co-founder of BlueOakNx, Inc., brings over 35 years of experience in small-molecule drug discovery and development across oncology, inflammation, CNS, and cardiovascular/metabolic disorders. A co-inventor of Zetia and Vytorin, he holds 100+ patents and has authored 70+ publications. He will give a foundational talk on mitochondria and their role in primary mitochondrial diseases, including Leigh syndrome.
11:10am Q&A with the panelists 11:20am Mitochondria transplantation as a therapy for Leigh Syndrome • Jonathan R. Brestoff, MD, PhD, MPH, Associate Professor, Washington University School of Medicine in St. Louis
Mitochondria transplantation is novel therapeutic procedure in which isolated mitochondria are administered with therapeutic intent. In this talk, Dr. Brestoff will describe our efforts to develop this technology to treat Leigh Syndrome.
11:35am Stem cell-driven drug discovery highlight repurposable drugs for Leigh syndrome • Alessandro Prigione, MD, PhD, Professor of Pediatric Metabolic Medicine, University of Düsseldorf
Dr. Prigione will discuss recent progress in understanding and treating Leigh syndrome with iPSCs and brain organoids, including innovative therapies discovered using deep learning. This work led to an EMA Orphan Drug designation for a repurposable compound and a clinical trial now in development. Collaborations with clinicians aim to bring these findings to patients with pediatric mitochondrial diseases.
11:50am Models and treatments for MT-ATP6-related Leigh syndrome • Michal Minczuk, PhD, Professor, University of Cambridge
Mutations in the MT-ATP6 gene are a common cause of Maternally Inherited Leigh Syndrome (MILS). With support from Cure Mito and Cure ATP6, Dr. Minczuk's team developed a mouse model carrying the m.8069G>A mutation. He will present new findings on mitoTALENs—tools that lower mutation levels in this model—and share promising results using mitochondrial base editors to correct MT-ATP6 mutations in human cells, improving mitochondrial function.
12:05pm The Gut and The Mitochondria • Ibrahim Elsharkawi, MD, Assistant Professor of Genetics and Pediatrics, Icahn School of Medicine at Mount Sinai
Dr. Elsharkawi will discuss nutrition and mitochondrial disease, and new insights in recent years about links between the gut microbiome and the mitochondria.
12:20pm Turning the Oxygen and Vitamin Dials • Isha Jain, PhD, Associate Professor and Investigator, Gladstone Institutes and UCSF
Both oxygen deprivation (hypoxia) and excess (hyperoxia) are toxic, contributing to major diseases such as heart attack, stroke, and lung injury. While their molecular mechanisms remain unclear, our recent work uncovers how hyperoxia destabilizes specific iron-containing protein complexes, driving cellular damage. These findings reveal a novel therapeutic approach that we aim to extend to inborn errors of metabolism, aging, and other metabolic disorders.
12:35pm Unraveling therapeutic candidates for Leigh syndrome by partnering with Leigh syndrome patients and their families • Richard Novak, PhD, Co-founder and CEO, Unravel Biosciences
Unravel Biosciences partnered with Cure Mito and over 20 families to analyze 4 different Leigh syndrome-causing genes. Our results show drug candidates that may benefit multiple Leigh syndrome patient groups, independent of the causative gene.
12:50pm Drug repurposing at scale for inherited mitochondrial diseases • Ethan Perlstein, PhD, CEO, Perlara
Dr. Perlstein will share preclinical and clinical summaries of the past 5 years of using patient avatars to repurpose drugs for mitochondrial diseases like Leigh syndrome.
1:15pm BREAK 1:30pm Critical Path’s Rare Mitochondrial Diseases Task Force • Alexandre Bétourné, PhD, PharmD, PMP, Executive Director, C-Path
The presentation will provide an overview of the Rare Mitochondrial Diseases Task Force mission, with an update on near term deliverables including the development of recommendations to enhance registry data collections, and discuss long-term goals with cases examples of drug development tools that our group aim to generate.
1:45pm A New Model for Rare Disease Clinical Trials: Accelerating the Path to Treatment • Souad Messahel, PhD, Head of Clinical Operations, Elpida Therapeutics
This talk will introduce an innovative model for rare disease clinical trials designed to streamline the drug development process and accelerate patient access to treatment. By integrating adaptive trial designs, regulatory strategy optimization, this model aims to overcome traditional barriers in rare disease research. The goal is to show how a more efficient, patient-centered approach can expedite clinical evaluation while maintaining scientific rigor and regulatory compliance.
2:00pm Treatment of Pyruvate Dehydrogenase Complex Deficiency • Kyle Ashton, PhD, Head of Medical Affairs, Saol Therapeutics
In this talk Saol Therapeutics team will discuss the clinical trial results of SL 1009 for the treatment of PDCD.
2:30pm Conclusion • Kasey Woleben, Executive Director, President and Co-Founder, Cure Mito
The symposium is moderated by Dr. Leora Fox, Fox Scientific Consulting.