The 2nd PCH Research Network Meeting took place at the Karlsruhe Institute of Technology (KIT) in May 2025. International researchers, physicians and employees of the PCH2cure project came together in Karlsruhe, Germany. The meeting was organized by Prof. Dr. Simone Mayer, Dr. Julia Matilainen and Dr. Axel Lankenau.
Objectives of the meeting
- Expansion of the PCH Research Network
- Exchange and promotion of collaborations
- Elaboration of the path to a cure
- Identification of perspectives regarding donations and funding
Topics of the meeting
- Regulatory aspects of cell and gene therapy
- Clinical and ethical aspects of the use of personalized medicine
- Use of artificial intelligence in genetic research
- Collaboration between patients, research and clinic
- Steps to prepare for future clinical trials
- “Drug Repurposing”: Pharmaceutical in-vitro screening
Funding strategy for PCH2cure
Various measures for further funding of PCH2cure’s projects were presented. These included, for example, the establishment of a gGmbH with the aim of professionalizing fundraising and raising more than 1 million Euro per year to finance therapy developments. The establishment of a Scientific Advisory Board, i.e. a scientific committee that evaluates project and funding applications and makes recommendations, is also planned.
Preparation for future clinical studies: “Clinical Trial Readiness”
The aim of this program item was to identify clinical endpoints or biomarkers that can be used in in-vitro studies and to discuss regulatory aspects. Using the already approved therapy Zolgensma for spinal muscular atrophy as an example, the steps required to develop a vector (AAV)-based gene therapy for PCH were discussed.
“Drug Repurposing”: Pharmaceutical in-vitro screening
This part of the meeting aimed to define drugs based on disease mechanisms. Additionally, the discussion included the selection of compounds to be tested and how their applicability in PCH can be tested using cellular models or in silico.
Wide range of topics and new ideas bring the therapy for PCH a step closer
The international and interdisciplinary nature of the meeting in Karlsruhe enabled valuable new research approaches for the development of therapies for PCH to be explored in great depth. Work packages for implementing the ambitious plans were distributed and the necessary networking between various research institutes was expanded. As funding plays a major role in all endeavors, detailed plans were also drawn up for this. All in all, it was an extremely successful meeting, raising hope for progress in the near future.
