Testing New Treatments for NF1

International research cooperation funded by FFG

The Medical University of Vienna (University Clinic for Pediatrics and Adolescent Medicine, Cancer Research Center) and Boehringer Ingelheim RCV have formed a research consortium together with the patient organization NF-Kinder and the Harvard-based Dana Farber Cancer Institute. It is working to better understand the complex biological processes that lead to tumor formation in NF1. The researchers have devised innovative testing models to examine the interaction between tumors and the natural NF1-altered surrounding tissue so as to reproduce as accurately as possible the situation of those affected. 

“If we could succeed in inhibiting the intracellular signal transfer and the cell-to-cell interactions, this would be a breakthrough in the treatment of NF1,” says Özlem Yüce Petronczki, project leader at Boehringer Ingelheim RCV. 

“We are looking to identify possibilities for developing next-generation drugs and combined therapies to tackle NF1-associated tumors. This would lay the foundation for more effective and better tolerated treatments,” 

adds Johannes Gojo, professor of pediatric neuro-oncology at the University Clinic for Pediatrics and Adolescent Medicine.

The close cooperation between academia and the research industry will facilitate direct implementation in the Clinic. “Innovative research to treat rare diseases like NF1 calls for tight cooperation between academic and industrial partners,” says Walter Berger, professor of applied and experimental oncology at the Cancer Research Center. The project is being subsidized by the Austrian Research Promotion Agency (FFG).

Close to the tumor: innovative research directly in the Clinic

Together with the patient organization NF-Kinder, the Medical University of Vienna and Boehringer Ingelheim would like to test promising compounds directly on the primary tumors, i.e., on samples taken from individual patients. Innovative ways of blocking aberrant signals in NF1 cancer cells will be investigated and their effect on the tumor microenvironment and the immune system analyzed. Boehringer Ingelheim has been involved for many years in the development of improved treatments for rare diseases, particularly RASopathies, as they are called, pathological genetic mutations of particular cell signal pathways. Potential solutions such as a KRAS multi-inhibitor give reason for hope. “People with NF1 can be affected as young children as a result of a genetic mutation and then for their entire life be susceptible to various types of tumor. The better we understand NF1-associated tumors, the sooner will we be able to offer effective therapies in the future,” says Amedeo Azizi, head of the NF-Kinder-Expertisezentrum at the Medical University of Vienna.

The project will enable the effects of new products on people with NF1 to be analyzed more specifically. “Innovative therapies are an important key to a better quality of life for people with NF1, and it’s important to involve those affected as early as possible in the development,” explains Claas Röhl, head of NF-Kinder. International cooperation will not necessarily be confined to the treatment of NF1-associated tumors. The cooperation platform could expand its research in future to other rare diseases that are already being investigated at the Medical University of Vienna and at Boehringer Ingelheim.
 

About neurofibromatosis 1 (NF1)

• Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is a rare genetic multiorgan disease affecting 1 in 2,500 to 3,000 people.¹
• NF1 is a common tumor-predisposition syndrome. Those affected have an increased risk of certain diseases such as skin and bone anomalies and tumors in the peripheral and central nervous system.²
• People with NF1 often have cognitive impairments caused by the disease.³

About Boehringer Ingelheim RCV 

• The Boehringer Ingelheim Regional Center Vienna (RCV) oversees business with human and animal health products. Apart from Austria, the region comprises over thirty countries, above all in Central and Eastern Europe and Central Asia. 
• The clinical research in the entire region is coordinated from Vienna, which is also the central site for cancer research and biopharmaceutical research and production.
• In 2023, Boehringer Ingelheim RCV earned total revenue of 1,383.4 million euros. It has 4,686 employees in the region, including 3,247 in Austria.