My family is affected by a rare hereditary cancer syndrome, called von Hippel-Lindau disease (VHL). It is a genetic disease in which tumors can grow in our brains, spines, eyes, ears, kidneys, adrenal glands, pancreas, and epididymis/broad ligaments. Children from the age of 1 year old can start developing these tumours, and there is currently no cure. Currently, VHL patients are screened by CT and MRIscans from early childhood until the end of their life for tumourgrowth, which can then often be treated surgically before the tumor spreads. However, even with timely surgeries to avoid metastatic cancer, problems can occur as a result of the tumors and repeated surgeries, including blindness, cognitive and loss-of-function from multiple brain surgeries, paralysis or limited mobility, kidney insufficiency requiring dialysis or transplantation, type 1 diabetes, deafness, adrenal and pancreatic insufficiency requiring lifelong medication, and infertility. 

There is a new medicine for VHL, approved by the FDA in the USA (August 2021) and in final approval by NICE in the UK(https://www.nice.org.uk/guidance/indevelopment/gid-ta10817 called belzutifan (commercial name Welireg). Belzutifan has changed the lives of people living with VHL, by specifically altering the biology of cells lacking the VHL protein [1]. It is a tablet that can be taken at home, and has only limited side effects. The approval was based on a phase 2 clinical trial following 61 VHL patients, and recorded clear clinical benefit for those patients across all tumour types, including a drastic reduction in the number of surgeries needed [2]. A recent update with nearly 2.5 years of follow-up of those same 61 VHL patients reported that belzutifan continued to show antitumouractivity in VHL disease–related neoplasms, including tumours/cancers in the kidney, pancreas, brain, spine and eyes, with no new safety concerns [3]. The investigators of that follow-up study recommend that their “results support the use of belzutifan as a systemic treatment for VHL disease.”

However, in Europe, belzutifan is only available in the context of a clinical trial, and those are mostly only for patients with metastatic kidney cancer, who are not VHL patients. There are approximately 12,500 VHL patients in the 27 EU countries. The EMA has not even started the process of approving belzutifan, despite its widespread use in the USA for nearly 1.5 years. In the meanwhile, European VHL patients are dying from inoperable brain tumors, becoming type 1 diabetics unnecessarily, becoming dialysis patients because their remaining kidney tissue has a new tumor, irreversibly going blind or deaf, and even in the best scenarios, undergoing unnecessary surgeries. The psychosocial impact is enormous, disrupting lives and work, knowing from online forums that their counterparts in the USA, and shortly in the UK, have access to a treatment that is not available to European patients. At enormous personal costs, several patients are moving to the USA, or seeking treatment there, in order to access belzutifan. 

We call upon the EMA for immediate action, and consideration of belzutifan for VHL patients. This discrepancy of access between the USA and EU is unacceptable. There are no serious safety concerns, and no patients have died from treatment-related effects. However, patients ARE dying for lack of action by the EMA. 

We sincerely hope that the EMA will consider belzutifan for VHL patients.