Rare neurological diseases often present some of the most complex challenges in medicine. Limited awareness, delayed diagnoses and the absence of disease-modifying treatments can leave patients navigating long and uncertain journeys through healthcare systems.
Ataxia is one such group of conditions. Characterized by progressive loss of coordination and balance, ataxias can profoundly affect mobility, speech and daily functioning. Many forms are genetic, and despite advances in research, treatment options remain limited.
Chief Executive
Ataxia UK
To better understand the current landscape of care and research, Xtalks spoke with Sue Millman, Chief Executive of Ataxia UK, a leading patient advocacy organization dedicated to supporting individuals living with ataxia and advancing scientific progress in the field.
In the conversation, Millman discussed the challenges facing patients, emerging research momentum and the role of patient organizations in connecting scientific discovery with real-world needs.
The Urgent Need for Faster Diagnosis and Better Support
For people living with ataxia, the path to diagnosis can be long and confusing. Because the disease is rare and symptoms overlap with other neurological conditions, many patients spend years seeking answers.
Millman explained that obtaining a timely and accurate diagnosis remains one of the most critical unmet needs in the ataxia community.
“What people with ataxia want, in common with all the rest of the various medical conditions, is a speedy diagnosis,” she said.
Even once a diagnosis is confirmed, patients and families often face a steep learning curve. Because many individuals have never heard of ataxia before their diagnosis, clear communication and ongoing medical guidance are essential.
In addition to clinical care, patients frequently require long-term practical and emotional support. As a progressive condition, ataxia can lead to a gradual loss of physical function, affecting not only patients themselves but also their families and caregivers.
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A Growing Drug Development Pipeline
Although disease-modifying therapies remain limited, the ataxia research landscape is beginning to shift.
Millman noted that increasing interest from biotech and pharmaceutical companies is helping to expand the therapeutic pipeline, offering new hope for patients.
One milestone is the development of omaveloxolone, the first disease-modifying therapy approved for Friedreich’s ataxia in several regions. Friedreich’s ataxia is the most common form of inherited ataxia and often begins during adolescence.
However, access to the therapy remains uneven across countries.
While omaveloxolone has received regulatory approval in the UK, it has not yet been reimbursed by the National Health Service (NHS), leaving many patients unable to access the treatment.
“There are people in this country seeing other people in other parts of the world who have managed to obtain the drug and people in this country can’t get it,” Millman explained.
The situation highlights a broader challenge facing rare disease communities worldwide: scientific progress does not always translate immediately into accessible treatments.
Advances in Genetics Are Transforming Diagnosis
One area where meaningful progress is already visible is in genetic testing.
In the UK, whole-genome sequencing is now available through the NHS for patients with suspected rare diseases. This capability has significantly improved the ability of clinicians to identify specific forms of ataxia.
If the genetic cause of a patient’s condition is known, they can be more easily matched to relevant clinical trials as new therapies are developed.
Improved genetic diagnostics are also helping researchers better understand the diversity of ataxia subtypes, which is essential for developing targeted therapies.
Bridging the Gap Between Research and Patients
As a patient organization, Ataxia UK plays an important role in connecting the research community with the lived experiences of people affected by the condition.
The charity provides a wide range of services, including patient support programs, information resources and advocacy initiatives. It also funds research projects aimed at advancing new treatments.
Crucially, the organization helps ensure that the patient voice is integrated into scientific discussions.
“Our governance, our board is composed entirely of people who either have the condition or who are related to people who have the condition,” Millman said.
Ataxia UK regularly gathers feedback from the patient community through surveys and consultations, allowing researchers and pharmaceutical companies to better understand which symptoms and outcomes matter most to patients.
This feedback can shape the design of clinical trials and help ensure that research priorities align with real-world needs.
The organization also collaborates with international partners, including the Friedreich’s Ataxia Research Alliance, the National Ataxia Foundation (USA) and other global groups, to host major scientific conferences. These meetings bring researchers together and give patients the opportunity to speak directly with scientists about their experiences.
For many early-career researchers entering the field, it may be the first time they have met someone living with ataxia.
“I can’t think of anything more motivating,” Millman said.
System-Level Challenges in Rare Disease Care
Beyond scientific research, systemic healthcare challenges also affect people living with ataxia.
One major issue in the UK is the limited number of neurologists available to treat patients with complex neurological conditions.
According to Millman, the UK has roughly 1.6 neurologists per 100,000 people, far fewer than the European median of 6.6 neurologists per 100,000.
This shortage can lead to delays in diagnosis, limited access to specialist care and long waiting times for patients.
Policy frameworks designed to support rare diseases could help address some of these challenges. The UK’s Rare Disease Framework, which aims to improve diagnosis, care coordination and access to treatments, has been an important step in this direction.
However, ongoing policy development will be needed to ensure that patients with rare diseases receive the specialized care they require.
Another critical issue involves how healthcare systems evaluate treatments for rare diseases. Millman argues that traditional drug-assessment processes are often designed for common conditions, making them poorly suited to therapies targeting very small patient populations.
Without adjustments to these evaluation models, new treatments may struggle to reach patients even after they are scientifically validated.
Building Sustainable Funding for Rare Disease Research
Funding remains an ongoing challenge for rare disease organizations.
Ataxia UK relies heavily on donations from its community of supporters, alongside occasional sponsorship from pharmaceutical companies for educational initiatives.
Over the years, the organization has grown significantly, expanding from eight staff members in 2007 to roughly 25 today. Much of this growth has been driven by grassroots fundraising efforts and community engagement.
Supporters often organize events, awareness campaigns and workplace fundraising programs to raise both funds and public understanding of the disease.
The organization is also exploring philanthropic partnerships and legacy donations as potential long-term funding strategies.
These efforts are essential for sustaining research investments and maintaining the patient support services that many families depend on.
A Vision for the Future of Ataxia Care
Looking ahead, Millman believes that meaningful progress for the ataxia community will depend on several key developments.
First, diagnostic timelines must continue to improve so that patients receive accurate answers earlier in their disease journey.
Second, access to new treatments must become faster and more equitable once therapies are approved.
Finally, stronger specialist networks and coordinated care systems will be needed to support patients throughout the course of the disease.
Ataxia is a lifelong condition that often progresses over decades. Patients require ongoing physiotherapy, speech therapy and psychological support as their needs evolve.
“We want seamless, easily navigable pathways that enable patients to get what they need from our medical services,” Millman said.
With a growing research pipeline, improved genetic diagnostics and continued advocacy efforts, the ataxia community is working toward a future where earlier diagnoses, effective therapies and comprehensive care become the norm rather than the exception.
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