Anyone wishing to participate can contact  Study Coordinator Katerina Stroud on phone: 01223 746716 or email: Katerina.stroud2@nhs.net or the Chief Investigator Professor Eamonn Maher eamonn.maher@nhs.net or add-tr.humgendis@nhs.net

We are delighted to be working with Professor Eamonn Maher (Professor of Medical Genetics and Genomic Medicine and Head of the Department of Medical Genetics, University of Cambridge/Addenbrooke’s Hospital), Professor William Drake (Consultant Physician/Professor of Clinical Endocrinology at St Bartholomew’s Hospital) and the Genetic Alliance https://geneticalliance.org.uk/ .

As it currently stands, belzutifan has approval from the MHRA (the regulatory body in the UK) as follows:

“Treatment of adult patients with von Hippel-Lindau (VHL) disease who require therapy for VHL-associated renal cell carcinoma (RCC), central nervous system (CNS) hemangioblastomas, or pancreatic neuroendocrine tumours (pNET), and for whom localised procedures are unsuitable or undesirable.” https://www.gov.uk/government/publications/orphan-registered-medicinal-products/orphan-register

This scope is now wider than it was in 2021, as at that time, it only covered renal cell carcinoma (RCC), whereas now it covers hemangioblastomas and pNETs, which is excellent news.

Note though, that the MHRA approval is only for people “for whom localised procedures are unsuitable or undesirable.”  This means that it will not yet be used as a preventative measure and will only be prescribed for those patients in greatest need, for example if brain surgery is thought to be dangerous. The reasoning for this is that the long-term effects of taking belzutifan are not yet known, but as more knowledge is gained over time, it is hoped that the approval will be widened.

The possibility of obtaining belzutifan by private prescription (within the MHRA approval terms), i.e., you can ask your consultant to provide you with a private prescription seems to have been withdrawn. However belzutifan may still be available through a individual funding request following this link https://bnf.nice.org.uk/drugs/belzutifan/medicinal-forms/ which gives NHS indicative price £11,936.70 (Hospital only). Ask your consultant to make a individual funding request see https://www.england.nhs.uk/wp-content/uploads/2017/11/ifr-patient-guide.pdf

The Charity’s main aim now is to work towards NHS funding for belzutifan.

The current timetable is as follows:

• Comments on the draft rescoping exercise were submitted to NICE on 14 December 2022. These comments will be considered by NICE and if they agree with our recommendations, the scope will be updated.
• In January 2023, we will be notified of an 8-week period during which time we will put together our submission in support of the approval. This will include documentation from patients giving details of their experiences of living with VHL.
• Professor Maher, Professor Drake and the Genetic Alliance will also submit their evidence at this stage.
• There will then be a technical stage, where the evidence provided will be evaluated by a panel of NICE experts.
• The evidence will be presented to the first committee in September 2023. There will be the opportunity for 2 patient experts to attend the committee and give their evidence, one from a personal point of view and one from a wider perspective detailing several patients’ experiences.
• We have been told that it is not unusual for a drug to be turned down at this first committee, and there will be a second committee (which will take place in November 2023), to discuss it further and hopefully approve it.
• There is a legal requirement for the approved drug to be available to patients within 3 months of the funding decision.

Decisions made by NICE only apply to NHS England. Merck/MSD is looking to start the approval process with the Scottish Medicines Consortium in January 2023, and we are told that Wales/Northern Ireland usually follow NICE’s recommendations. Ireland of course, will come under the EU approvals.

In the meantime, we strongly advise patients to consult with their medical teams about belzutifan, particularly if you are considering stalling surgery as this could be dangerous for you.

Access to a belzutifan trial for UK VHL patients with PPGL and PNETs has been published. Patients do have to meet the recruitment criteria. We advise you to speak with your consultants if you think you may qualify. Please see the following link for more details:

Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), or Von Hippel-Lindau (VHL) Disease-Associated Tumors (MK-6482-015)

https://www.clinicaltrials.gov/ct2/show/NCT04924075

We hope this information is helpful. Members of the working party are trustees and/or VHL patients themselves and are as keen as you to see access to this drug here in the UK/Ireland. Please be assured we are doing all we can to support its approval and will bring you news on the approval and/or trials as soon as we have any.

It gives us visibility in Europe as the UK and Ireland support charity.

Eurordis’ s mission statement is We empower, partner, and advocate for people living with a rare disease in Europe. It has a thriving community of over 1000 patient organisations.

The 100K genomes project is a world-leading genomics study performed in the UK that has provided more than 100,000 whole genome sequences on individuals with a variety of rare diseases and cancers (including more than 1,000 kidney tumours). We are analysing the genetic alterations in VHL and other kidney genes in order to better classify the genetic variations in these genes. The results from these studies will make an important contribution to international efforts to improve genetic diagnosis of VHL disease and related disorders. *The initial grant award was for £40,000 and an additional grant award of £20,000 was made March 2021 to continue the work.

SAVE THE DATES

– Virtual Pub Quiz, Thursday 27th May 8pm BST

– Virtual Coffee Morning, Sunday 29th May 11am BST

– #VforVHL, throughout May. Run, walk or cycle 5k & upload your #VforVHL photo. Nominate two others to join in too!

– Register for MyVHL patient data registry (databank.vhl.org/), Saturday 22nd May

– Look out for VHL Alliance events too throughout the month – Mom’s Day Run, Warrior Call & Lunar Challenge

SPREAD #VHLAWARENESS

– Add your #vhlawareness Facebook Frame

– Wear your VHL merchandise

– Share #vhlawareness posts

– Share your story

VHL should be suspected in individuals with or without a family history of VHL who have:
• retinal angioma, especially in a young individual
• spinal or cerebellar hemangioblastoma
• adrenal or extra-adrenal pheochromocytoma
• renal cell carcinoma (RCC), if the individual is younger than age 47 years or has a personal or family history of any other tumour typical of VHL
• multiple renal and pancreatic cysts
• neuroendocrine tumours of the pancreas (pNET)
• endolymphatic sac tumours (ELST)
• less commonly, multiple papillary cystadenomas of the epididymis or broad ligament

Read about the suggested routine surveillance protocol for patients with VHL (Von Hippel-Lindau Disease), the centres who contributed to this study and the examples compared across a number of centres in the UK.