Prof. Dr. Angela Schulz, UKE Hamburg: NCL research – Progress and Challenges
Prof. Dr. Angela Schulz provided insights into the current state of research and the potential of new therapies for children with neurodegenerative diseases often referred to as childhood dementia. She holds Germany’s first Clinician Scientist Professorship for Rare Diseases, established in 2024 by the Eva Luise and Horst Köhler Foundation for People with Rare Diseases in partnership with the Else Kröner-Fresenius Foundation. In her presentation, Angela compellingly illustrated how translational research can improve care: through systematic data collection on the natural course of disease, identification of new biomarkers such as Neurofilament Light Chain (NfL), and computer-assisted methods for evaluating therapeutic effects.
Professor Schulz placed particular emphasis on the importance of early diagnosis: “We need robust data, reliable biomarkers, and above all, the courage to take new paths early on. Only then can we prevent valuable time in the lives of affected children from being lost.” This approach is currently being tested through a pilot project on newborn screening for CLN2, a potential gateway to presymptomatic treatments.
The session’s opening was a powerful call for integrated research, early intervention, and a shared responsibility that must transcend disciplinary and sectoral boundaries.
Dr. Frank Stehr, NCL Stiftung: Research Initiation and Networking for NCL: Strategies and Successes
Dr. Frank Stehr, Chair of the NCL Foundation, followed with a powerful presentation illustrating the crucial role that civil society initiatives play in advancing research. For over two decades, the foundation has been at the forefront of research into childhood dementia with a clear strategy, long-term commitment, and measurable success: more than 60 research projects have been initiated, over €7 million invested in scientific studies, new networks established, and international young talent purposefully supported.
“In order for the possible to arise, the impossible must be attempted again and again.” With this quote by Hermann Hesse, Frank emphasized a key message that his presentation brought to life: what often seems impossible is precisely what paves the way for real progress — when pursued with dedication and perseverance.
In this context, he made clear that foundations can be far more than just funders: they identify research needs, connect stakeholders, and spark momentum through educational programs, medical training, and targeted public outreach. In doing so, they help to build a dense network of knowledge and awareness, which is a vital foundation for early diagnosis and tailored therapies.
One thing is certain: many of the advances in NCL research today would not have been possible without the tireless efforts of affected families. They are the ones who drive research forward, uncover gaps, and fight for visibility often long before politics or science respond. “Families are the motor of rare disease research,” summarized Frank Stehr. For the NCL Foundation, this is not just an inspiring motto, it is a lived reality.
Dr. Christian Thulfaut (NCL-Gruppe Deutschland): A Family Perspective on living with NCL
What this means in practice was vividly illustrated by Dr. Christian Thulfaut. As a father of affected children, and Chair of the patient organization NCL-Gruppe Deutschland, he offered a deeply personal and moving insight into life with a rare disease that ultimately leads to early death and into the difficult questions families face when diagnosis, treatment, and everyday life collide.
Using his own family’s story – three of the five children he shares with his wife Andrea live with CLN3 – Christian conveyed how profoundly a progressive, life-limiting condition affects every aspect of family life: housing, partnership, sibling relationships, work. Nothing remains untouched.
The challenges go far beyond medical care and include daily logistics, emotional strain, and the constant effort to preserve some sense of normality. “NCL is like the Tour de France,” Christian stated. “Full of climbs, sprints, and breaks—you have to think in stages, but keep the whole race in view. And you need a strong team.”
His presentation was a powerful call to recognize families as central players in the care ecosystem not just as those affected, but as true experts in navigating daily life. Because they not only bear the burden of the disease but also hold many of the solutions our systems so urgently need.
Insights into the individual sessions of the 9th Rare Disease Symposium can be found here:
Keynote: „Unlocking the Secrets of Rare Diseases: How Precision Medicine is Turning Discovery into Hope“
Session 2: Unlocking the Power of Data in Rare Diseases
Session 3: Spotlight Talks: Cutting-Edge Developments – Recognizing, Understanding and Treating Rare Diseases
Session 4: Looking ahead: Visions and Advances for Tomorrow’s Healthcare of Rare Diseases
Photos: Andrea Katheder
We extend our heartfelt thanks to our partners for their financial support: Pfizer Pharma GmbH, Takeda Pharma Vertrieb GmbH & Co. KG, Sanofi-Aventis Deutschland GmbH, Alexion Pharma Germany GmbH, Chiesi GmbH, Ipsen Pharma GmbH, UCB Pharma GmbH, and PTC Therapeutics Germany GmbH.
