Belzutifan: A Breakthrough Treatment for von Hippel-Lindau Syndrome
The Italian Medicines Agency (AIFA) has approved the reimbursement of belzutifan, the first systemic therapy for von Hippel-Lindau (VHL) syndrome. This decision shifts the treatment paradigm for the approximately 1,100 people affected in Italy from a reliance on repeated surgeries to a medical alternative. According to medical data, this transition could significantly alter the disease’s history for patients who previously faced lifelong surgical interventions.
What is von Hippel-Lindau (VHL) syndrome?
VHL is a rare and complex condition where patients are prone to developing both benign and malignant tumors across various organs. The average age of diagnosis is 26 years.
The condition carries severe risks. About 70% of patients develop clear cell renal carcinomas, while 60-80% develop hemangioblastomas of the central nervous system. Additionally, 5-10% develop pancreatic neuroendocrine tumors.
These tumors often lead to debilitating disabilities. Patients may experience renal failure, motor or neurological impairment, and the partial or total loss of vision.
How does belzutifan change VHL treatment?
Until now, management relied on constant surveillance and frequent surgeries to remove tumors. Alfonso Massimiliano Ferrara, an endocrinologist at the Irccs Istituto Oncologico Veneto in Padua, notes that patients have moved from “hope to a concrete therapeutic opportunity.”
The impact on surgical requirements has been stark. Ferrara points to data showing that before the drug’s introduction in 2018, 92% of patients underwent surgery; that figure has since dropped to 3%.
This medical advancement is the result of decades of research. The VHL gene was first identified in 1993, followed by the development of the first experimental inhibitors in 2013.
What are the current challenges in accessing the drug?
Despite AIFA’s approval and the publication of reimbursement in the Gazzetta Ufficiale, access is not immediate. The U.S. multinational Msd, which produces belzutifan, must now stop providing the drug through compassionate use programs.
Nicoletta Luppi, president and CEO of Msd Italia, has urged regions to make the drug available quickly to avoid interrupting current therapies. Currently, only six regions have authorized the drug and identified reference centers.
Waitlists in some areas are nearing 100 days. This delay occurs despite the drug being approved by the FDA in 2021, the European Medicines Agency in 2025, and now by AIFA.
What may happen next for VHL patients?
The immediate future of treatment depends on regional implementation. If regions do not accelerate the authorization process, some patients may face interruptions in their ongoing therapies.
A possible next step involves the remaining Italian regions establishing reference centers to reduce the current 100-day waiting periods. This would align regional availability with the national reimbursement approval.
Frequently Asked Questions
What is the primary benefit of belzutifan for VHL patients?
It is the first systemic therapy for the syndrome, which has helped reduce the percentage of patients requiring surgery from 92% to 3%.
How many people in Italy are affected by VHL?
Approximately 1,100 people in Italy have the condition.
What are the most common tumors associated with VHL?
The most common are clear cell renal carcinomas (70%) and hemangioblastomas of the central nervous system (60-80%).
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