New and innovative medicines have the potential to make a real difference to children and young people with rare conditions such as cancer and genetic diseases. We have worked with NHS England and manufacturers to find ways of making new treatments available.

The NHS Long Term Plan highlights that survival rates for children with cancer have doubled over the past 40 years but, because mortality has fallen for other conditions, cancer is now the biggest cause of premature death among children and young people aged 5 to 14 years.

One of the commitments in the Long Term Plan is that children and young people in England will be among the first in Europe to benefit from CAR T-cell cancer therapies. These therapies, which involve taking a person’s own immune cells and modifying them to fight their cancer cells, have the potential to be a cure.

We first recommended CAR T-cell cancer therapy in December 2018. Tisagenlecleucel therapy is now available for treating relapsed or refractory B-cell acute lymphoblastic leukaemia in people aged up to 25 years through the Cancer Drugs Fund. This is a source of funding for cancer drugs in England which provides patients with faster access to the most promising new cancer treatments while further evidence is being collected to resolve uncertainties around clinical effectiveness.

As part of the Cancer Drugs Fund approval, Novartis, the manufacturer of tisagenlecleucel, has agreed a managed access agreement with NHS England. This includes a patient access scheme which will allow young people to have access to the therapy as more data are gathered. Around 25 to 30 young people will be eligible for this treatment each year in England. We will review the new evidence in 2023 and decide whether to recommend tisagenlecleucel for routine use on the NHS.

Medicines for very rare conditions

Some conditions are so rare that it is difficult to collect evidence about how well new treatments work. These treatments also tend to have a higher cost because so few people are eligible to receive them. Our highly specialised technologies guidance makes recommendations on whether treatments for very rare conditions should be available on the NHS.

Neuronal ceroid lipofuscinosis type 2 (CLN2) is a very rare inherited condition affecting between 3 and 6 babies each year in the UK. It’s a progressive condition, also known as Batten disease, and the average life expectancy for children with CLN2 is 10 years.

We recommended cerliponase alfa for treating CLN2. For some people, cerliponase alfa may lead to long-term disease stabilisation and a near normal life expectancy. However, there is only short-term clinical evidence, so assumptions about long-term disease stabilisation and mortality are uncertain.

NICE, NHS England and BioMarin, the manufacturer of cerliponase alfa, have therefore negotiated a managed access agreement. This agreement identifies the areas of uncertainty in the evidence and sets out arrangements to collect the data that may address these uncertainties. It also includes a confidential commercial access agreement between BioMarin and NHS England.

Responding to changes in practice

We often need to repond to changes in practice after a technology has been appraised.

In 2009 we published a technology appraisal on the use of cochlear implants for children and adults with severe to profound deafness. However, in 2017 after concerns were raised regarding the eligibility criteria for cochlear implants we published a review decision that the appraisal should be updated. This decision focussed on updating the eligibility criteria for cochlear implants.

The update meant that an extra 890 people could now receive cochlear implants, an increase of 70%. It now defines severe to profound deafness as only hearing sounds louder than 80dB HL at 2 or more frequencies without hearing aids.