Luxturna update

Posted on: Wednesday 19 June 2019

We are aware that there has been some recent publicity about the first American child to receive the new gene therapy Luxturna after its approval by the US Food & Drug Administration.

Luxturna is for the treatment of Leber congenital amaurosis type 2 (LCA2) and severe early-onset RP caused by mutations in a gene called RPE65. People must have two faulty copies of RPE65, confirmed by genetic testing, as well as reasonable numbers of remaining viable retinal cells, in order to benefit from this treatment. This means that only a tiny proportion of the inherited sight loss community will be eligible. Due to the severe, early-onset nature of this type of inherited retinal disease, eligible patients are likely to be children.

Can I get Luxturna in the UK?

Luxturna is not yet available in the UK. It has been approved by the European Medicines Agency but is yet to undergo assessment by the National Institute for Health & Care Excellence (NICE), which provides guidance to NHS England about which treatments it should fund. The NICE appraisal will be taking place over the summer. Retina UK is involved in this process and we are working hard to ensure that our community’s voice is heard and that Luxturna is made available to those who might benefit from it.

We expect to know the outcome of the NICE appraisal by October 2019, although this could be followed by a further period of negotiation with the pharmaceutical company involved (Novartis) if NICE does not recommend Luxturna for NHS funding.

How can I find out if my child or I am eligible for treatment with Luxturna?

You will need to see your ophthalmologist in the first instance; if you don’t currently have an ophthalmologist, your GP can refer you. The ophthalmologist may refer you for tests to check whether you have sufficient healthy retinal cells for the treatment to work. Luxturna provides healthy copies of the RPE65 gene but relies on retinal cells using their own molecular machinery to use these new genetic instructions; it won’t help in cells that have already degenerated. Your ophthalmologist will also need to arrange for you to have a genetic test if you don’t already know which gene is causing your sight loss, and the results for this may take some time. The test must show that you have two faulty copies of RPE65.

If I’m eligible, what happens next?

If Luxturna is made available through the NHS, your ophthalmologist will refer you to a treatment centre – there will only be a very small number of these, and possibly only one.

Luxturna is administered via an injection into the retina, which takes place under general anaesthetic. The treatment only needs to be given once but each eye is treated separately, with around six to eight weeks between the two operations. You will then need several follow up appointments at the treatment centre.

There is a risk of side effects, including further sight loss. These will be explained to you at the treatment centre.

If NICE does not approve Luxturna, will I be able to access it privately?

We don’t yet know if Luxturna will be accessible through private healthcare, although we will keep our community updated with any information as soon as we have it. Administration of Luxturna does require highly specialised facilities, which might present a challenge outside NHS settings. We don’t know what price would be set, but gene therapies do tend to be particularly expensive.