All Party Parliamentary Group second hearing on access to medicines in England

On Wednesday 11 October the All Party Parliamentary Group (APPG) on Rare, Genetic and Undiagnosed Conditions met for a second hearing on access to rare disease medicines in England. Parliamentarians including Baroness Hollins, Rt Hon George Howarth MP, Rt Hon. Baroness Neville-Jones, Lord Rogan, Catherine West MP, Alex Sobel MP and Daniel Zeichner MP were given the opportunity to hear from three guest speakers on their experiences of trying to deliver rare disease medicines.

An initial hearing on access to medicines in England, held in October 2016, featured case studies from patient organisations and healthcare professionals. There was broad agreement amongst guest speakers and attendees on the issues preventing access to rare disease medicines. The APPG felt that a second hearing that would allow representatives from NICE and NHS England to respond to the findings from the initial hearing would be fair and valuable.

We were disappointed that both NICE and NHS England were unable to send representatives to respond or participate in the second hearing.

Following an introduction from APPG co-chairs, Stephen Twigg MP and Vicky Ford MP, attendees heard from Sally-Anne Tsangarides, representative of Santhera.


Sally-Anne Tsangarides focused on the attempts to commission idebenone – a treatment for Leber’s Hereditary Optic Neuropathy (LHON), an inherited form of vision loss where 80% of patients will become severely sight impaired, or registered blind within a year of showing initial symptoms. Currently, access to this drug is only available through a clinical trial. The delay in accessing this drug has significant impact on young adults who, as a result of being unable to access the product, are losing their sight. In the two years since the European Medicines Agency (EMA) licensed the product, Scotland is the only country in the UK that has completed an evaluation of the drug, deciding to routinely commission the medicine.


The second guest speaker, David Lewis from Bio Products Laboratory, outlined the experience of commissioning purified coagulation factor X for treatment of hereditary factor X deficiency. This deficiency is one of the most severe clotting disorders, with purified coagulation factor X being the only treatment available, and approved by the EMA in 2016. Within the UK there are 230 diagnosed patients, 35 of which require treatment. Following a withdrawal of support from NHS England, they entered into a new NICE commissioning support programme which is, as yet, not fully formed. David Lewis finished by calling for more transparency and a focus on putting the patient first.


Mark Bell, representative of Sobi, outlined the use of glycerol phenylbutyrate for treatment of urea cycle disorders (UCDs), which causes a build up of ammonia and toxins in the body. Within the UK approximately 1,000 patients are affected, with 150 needing treatment. The number of those needing treatment would be higher, but currently half of patients die within the first few months of life, without access to treatment. Currently there is one other licensed product available for UCDs, sodium phenylbutyrate, also produced by Sobi, but this drug has adverse side effects, in addition to being difficult to take. Sobi have been in discussions with NHS England for over a year, with the view of working toward an agreement to replace the current treatment, without changing the current commissioning agreement – at no additional cost to NHS England.  Mark Bell asked what messages delays in commissioning send to bio-industry, when simple negotiations take over a year, delaying the delivery of innovation and improvements to patients’ quality of life.


During the discussion it was highlighted that large amounts of bureaucracy involved in accessing rare disease medicines caused problems. There were calls for NHS England to provide a clear explanation of what evidence stakeholders need to provide and how pathways to a decision work. Alongside this, attendees recognised the need and importance of patient voice within commissioning decisions. Many frustrations were voiced by patient representatives and organisations on the impact of delays in commissioning decisions. One patient representative evidenced how they had turned to purchasing drugs online to delay life changing symptoms.

Currently, the system governed by NICE and NHS England is highly complex, with multiple systems leading to access. Amendments and additions made by NICE and NHS England to the decision-making processes were not seen as being in the best interest of patients. The complexity involved makes defining a route to commissioning difficult, and therefore causes challenges to improving the current environment. Genetic Alliance UK has been challenged to work with a range of stakeholders, starting from a conceptual blank page, to propose a method of making decisions on rare disease medicines that is fair, transparent, effective, and ambitious. A new solution needs to be delivered to the Department of Health, NHS England and NICE, and consequently the APPG will reconvene to consider this issue as progress is made.