Ataxia UK and CureDRPLA provided feedback regarding the scope of a framework under development for individualised treatments in the UK

NHS England opened a consultation to seek feedback on an operational framework they are developing to support the future use of individualised genetic therapies in the NHS in England. They invited stakeholders to comment on what we thought should and should not be included in this framework.  

Individualised genetic therapies are treatments specifically designed and targeted to the unique variation in a person’s DNA that is responsible for causing their condition. These treatments are often delivered through an N-of-1 clinical trial. This means that there is only one, or a very small number, of people receiving the therapy in the trial, as it is targeted to their specific and ultra-rare genetic condition.   

The US is further ahead with individualised genetic therapies for ultra rare conditions and N-of-1 trials because established systems and frameworks enable this work. It is encouraging to see other countries, such as the UK, develop new frameworks for these purposes. While it is still early days, we welcome these developments and are actively engaging in efforts to support system change.  

Ataxia UK and CureDRPLA were well positioned to participate in this consultation as we have experience from the N-of-1 trials for people with DRPLA that are ongoing in the US; and we understand the strong desire from some families to access individualised genetic therapies in their home country and the current lack of access to such therapies outside the US.  

This initial document outlined that the NHS does not have allocated funding for the delivery of individualised genetic therapies, like N-of-1 trials, for the spending review period up to 2028/29. Once the framework is developed and in place, funding for such therapies would temporarily rely on research funding, not-for-profit or philanthropic sources. While establishing a framework to deliver genetic therapies within NHS settings is a major step forward and could represent a transformative change for people with ultra‑rare conditions such as DRPLA, in the consultation we highlighted the importance of allocating dedicated NHS funding. We also highlighted that the framework being developed should consider individualised genetic therapies that are already available in other countries.  

As part of the consultation, we were not informed about how the feedback will be processed or when the framework will become operational. We will keep the community updated as more information becomes publicly available.