Tofersen Access Community Update

Six weeks have now passed since Dr Rachel Jakeman delivered a petition and open letter to No.10 Downing Street calling for urgent action to improve access to tofersen, the first precision medicine treatment for people living with SOD1-related motor neurone disease (MND).

So where are we now? What has happened since? And what must happen next?

The arrival of tofersen represents a profound moment for our MND community. For the first time, there is a targeted therapy designed to treat a specific genetic cause of MND. It is an important step towards the future of precision medicine for our disease, and it will not be the last. There are several other active candidates in the pipeline right now.

However, while this scientific breakthrough offers real hope, access to treatment remains challenging. Difficulties accessing new medicines for rare diseases are unfortunately not new. But for people living with MND, a disease with an urgent and devastating trajectory, such delays have very real consequences.

This is why we called on the MND Association and other key stakeholders to step forward, and where necessary explore bridging solutions or funding mechanisms that could help ease access while national systems catch up.

Six weeks on from the Downing Street open letter and petition, progress from central government has been slower than the urgency of this disease demands. However, we are very grateful for the constructive engagement we have received from several Members of Parliament, alongside discussions with leading researchers, neurologists, the My Name’5 Doddie Foundation, and a number of specialist centres across the UK who are working hard to support patients and improve pathways.

The arrival of tofersen also raises several important questions for our community:

• Do we know, today, every patient who could potentially benefit from tofersen?

• Are all diagnosing neurologists routinely discussing genetic testing with people diagnosed with MND?

How do we remove as much friction as possible between diagnosis, genetic confirmation and treatment access?

These questions matter because tofersen has fundamentally changed the landscape.

Until recently, genetic testing in MND was often seen as optional or secondary, particularly where there was no clear family history. Results could take many months, sometimes over a year, and whilst frustrating, this was often viewed as a mere inconvenience rather than something time-critical.

Today that situation has totally changed. Any delays could be described as ‘causing’ actual clinical harm.

With a targeted therapy now available for SOD1-associated MND, timely genetic testing is increasingly important. Faster identification of eligible patients could open doors to treatment and monitoring that were not previously possible.

For this reason, we believe it is increasingly important that genetic testing is actively discussed with people diagnosed with MND, regardless of whether there is a known family history.

In parallel, united2EndMND’s Dr Rachel Jakeman along with several UK MND clinicians, is exploring the potential creation of a Tofersen Coordination Unit in conjunction with the UK MND Clinical Studies Group, the healthcare research arm of the UK Motor Neuron Disease Research Institute.

This proposed initiative would aim to:

• Provide a central point of contact for questions about tofersen access for both patients and neurologists

• Support information sharing between neurology centres

• Help clarify genetic testing pathways and turnaround times

• Identify and help address practical barriers within the current system
• Identify which care centres are administering tofersen and which are not?
• Identify how many patients are being treated at each centre and if there is any spare capacity
• Identify where any interim funding might come from

The goal is simple – to reduce confusion, improve coordination, and ensure that no eligible patient is missed.

This is a pivotal moment for our MND community. Precision medicine has finally arrived, but our systems must now adapt to ensure patients can benefit from it.

We encourage members of our community, who wish to do so, to speak with their neurologist about genetic testing, whether they are newly diagnosed or were diagnosed some time ago.

Finally, we want to thank everyone who continues to support this work – clinicians, researchers, charities, families, advocates and parliamentarians. Collaboration across the community will be essential to ensuring that scientific progress translates into real-world access for patients.

We will continue to update the community as discussions around the Tofersen Coordination Unit develop, and we welcome your thoughts and feedback.

Together, we move forward.