Dr Špela Miroševič

Dr Špela Miroševič, PhD, is the Co-Founder and CEO of the CTNNB1 Foundation, a non-profit research organisation leading the development of the first AAV9-based gene therapy for CTNNB1 syndrome, a rare neurodevelopmental disorder caused by pathogenic variants in CTNNB1. Her work encompasses translational research and regulatory development in advanced therapy medicinal products. She obtained her PhD in Biomedicine from the Faculty of Medicine, University of Ljubljana, after completing degrees in Biopsychology and Psychotherapy. Her scientific career began in psychosocial oncology, motivated by her mother’s illness, where she collaborated with Professor David Spiegel at Stanford University on studies investigating the effects of supportive-expressive group therapy on survival and well-being in patients with metastatic breast cancer.

After her son was diagnosed with CTNNB1 syndrome in 2020, Dr Miroševič redirected her research towards rare genetic neurodevelopmental disorders and established the CTNNB1 Foundation to coordinate an international translational research programme. She has been involved in every stage of CTNNB1 gene therapy development, including preclinical development, manufacturing, biodistribution, toxicology studies, quality control, CMC documentation, and preparation of the complete regulatory dossier comprising the IMPD, IB, and clinical trial protocol. The project achieved regulatory approval for the first clinical trial for CTNNB1 syndrome.

Dr. Špela Miroševič has played a critical part in coordinating research led by Dr. Damjan Osredkar, including a comprehensive genotype-phenotype correlation study, the multicentre Dragonfly natural history study, the development of clinical practice guidelines, and qualitative research exploring family experiences and treatment priorities. She has also organised three International CTNNB1 Syndrome Conferences, strengthening global collaboration among researchers, clinicians, and patient organisations.

In Slovenia, she played a central role in policy advocacy that led to the adoption of the “Urban Lex” legislative amendment, which introduced public co-financing of early-stage gene therapy programs and resulted in a €1 million national investment in the CTNNB1 program. To date, the Foundation has raised over €4 million in public and private funding to advance pre-clinical and clinical development. Dr. Miroševič received the European Joint Programme on Rare Diseases Award for international collaboration (2022) and has been recognised nationally through nominations for Slovenian of the Year (2021) and Delo’s Personality of the Year (2023), as well as the “Ona 365” Woman of the Year Award (2024). Dr. Miroševič’s current research interests focus on translational strategies for rare neurodevelopmental disorders, and European policy frameworks promoting equitable access to advanced therapies.