“The clock is ticking on the lives of tuberous sclerosis complex patients”

Jayne Spink, CEO of the Tuberous Sclerosis Association, writes about the impact of delays in patients’ access to treatments for tuberous sclerosis complex, highlighting some of the problems with the current system for commissioning medicines in England.

Tuberous sclerosis complex (TSC) is a rare genetic condition estimated to affect one million people worldwide. It can lead to tumours on vital organs – most commonly the brain, heart, kidney, skin and lungs. Whilst the impact of TSC varies considerably, with some people being relatively mildly affected, it can be an absolutely devastating condition.

I’d like you to imagine that it is your child, or your patient, that has reached the point where if untreated, their TSC-associated tumour will be fatal and in the very near future. The good news is that this outcome should be very, very far from inevitable, because everolimus, a safe and highly effective medicine has just been licensed. You understand that evaluations relating to cost and affordability of new medicines will need to be carried out, for example by the National Institute for Health and Care Excellence. But you discover that the drug costs less than £28,000 per year per patient. That’s less than the average cost per patient of kidney dialysis – and so this knowledge gives you reason to feel optimistic.

This is where patients and parents were in November 2012, at a point in time when everolimus had already been licensed by the European Medicines Agency for the treatment of inoperable TSC-related brain and kidney tumours. Almost five years on and patients still do not have access to this treatment here in England. Since November 2012, the Tuberous Sclerosis Association, patients, families and carers have fought hard to secure access to everolimus.

Early optimism

In February 2013, Dr Chris Kingswood, Consultant Physician and Nephrologist at Brighton & Sussex University Hospitals Trust, and I approached NHS England (NHSE), certain that given the existence of international evidence-based guidelines and a licensed and effective treatment, NHSE would be keen to ensure uptake of innovation and benefit for patients. Feeling encouraged by our initial contacts, we began work with the clinical community, led by Dr Kingswood, to support the development of draft policies for everolimus for TSC treatment. In the absence of guidance on the matter, we based our efforts on the formats used for existing commissioning policies for specialised services.

It transpired that our early optimism was completely unfounded. Overall, it has felt as though we have been forced into playing an exceedingly cruel and extended game of policy snakes and ladders, where the snakes predominate.

Over the intervening years, communications with NHSE have proven difficult, and this has compounded the impact of the multiple changes in process, personnel and policy that have taken place. More than once, the policies for the use of everolimus for the treatment of both kidney and brain TSC-related tumours have slipped off the agenda. For example, the Multi-System Disorder Clinical Reference Group (CRG), which had been working on a commissioning policy for both licensed indications, was disbanded in February 2015, rendering TSC policies homeless. As a result of this, patients and families found themselves seemingly no further forward than we had been two years earlier; that is to say, with no commitment or statement of intent from NHSE to evaluate everolimus for TSC.

Limited options

The inaction of NHSE meant that the only route for access was via Individual Funding Requests (IFRs). However, a Freedom of Information Request we submitted revealed that the overwhelming majority of IFRs submitted for TSC patients had been declined. By this time, to make things worse, more than five patients a year had presented. This had triggered a cut-off in access via the IFRs, and theoretically should have ensured the development of prescribing policies by NHSE.

We knew that the failure to progress the TSC policies was having a real and disastrous impact on individuals, and that in some cases it had cost patients their lives. The problem for those in the greatest need was being compounded by NHSE’s failure to update, reissue or replace a policy for critical need access to medicines, the original version of which had quietly expired in mid-2014.

In June 2015, there was significant media and political interest in the situation. As an outcome of a meeting with a group of MPs, convened and chaired by Greg Mulholland MP, NHSE issued a Specialised Services Circular committing to the development of in-year policies for TSC-related brain and kidney tumour treatment.

We were delighted when work finally commenced in September 2015. Evidence was in favour of routine access, and the drafts were ready in good time to meet the commitment to publish in-year. But this did not happen. From March 2016 onwards, as the end of the financial year drew ever closer, we began asking NHSE for information about when the decisions about TSC would be announced.

In June 2016, following an extensive delay of four months, access to everolimus for kidney tumours was finally granted. It became apparent that there was no intent to publish an in-year policy for the treatment of inoperable brain tumours resulting from TSC. The brain tumour policy, was to be held back until June 2016 in order that it could be subject to the newly introduced “prioritisation process”. We were worried about this, because our interpretation of the mechanism for prioritisation was that it would significantly disadvantage medicines for rare diseases.

In July 2016, NHSE announced that in the case of everolimus for the treatment of inoperable TSC-related brain tumours, everolimus was “currently unaffordable”. The Clinical Priorities Advisory Group (CPAG) ranked the policy as a level 5 priority, meaning that in its view, everolimus is of the highest comparable cost and the lowest comparable benefit. That NHSE should reach this decision is completely astonishing. The benefit is life and improved health. The consequence of denying access for these very few patients is death.

A harsh reality

We have come to accept the reality of NHS rationing. We are repeatedly told that not everything can be afforded, and that tough decisions must be made. But we feel NHSE’s decision beggars belief. We would argue that the cost impact of saving the lives of the 20 or so children and young people with inoperable TSC-related brain tumours, even at full list price, is vanishingly small.

We do not understand how anyone could reach a decision that their treatment should not be funded. It goes against the evidence. It goes against clinical opinion. And it goes against everything that a civilised society would deem as ethical and acceptable. And to make this blanket decision, to end lives through inaction (without either the right of appeal or the right to see the detail of how the decision was made), goes against the fundamental human rights of these young people.

NHSE has failed to respond to our Freedom of Information Request regarding how their decision on everolimus for the treatment of inoperable TSC-related brain tumours was reached. And while we continue to wait for an answer, and patients with TSC-related brain tumours continue to wait for access to everolimus, the clock will begin ticking on the lives of 20 or so young people each year.


Jayne Spink is Chief Executive of the Tuberous Sclerosis Association, the UK charity supporting people affected by the rare condition tuberous sclerosis complex and the UK’s only dedicated funder of TSC research. Jayne also sits on the Medical Genetics Clinical Reference Group and on Rare Disease UK’s Patient Empowerment Group.