How AFAF Is Supporting Friedreich’s Ataxia Families While Advancing Research

In the US, Friedreich’s ataxia is estimated to affect around one in 30,000 to 50,000 people. In France, Rouillon said it represents approximately 1,500 patients, while worldwide estimates are around 15,000 to 20,000 people.

The disease often appears in childhood or adolescence, with early symptoms commonly involving balance problems and progressive loss of coordination. Over time, people with Friedreich’s ataxia may experience loss of fine motor skills, speech difficulties, impaired vision or hearing, scoliosis, fatigue, pain and cardiac complications. For many patients, disease progression eventually leads to wheelchair use and increasing loss of independence.

“There are many battles to fight,” Rouillon said, describing the daily burden faced by people living with Friedreich’s ataxia and their families.

For Rouillon, the mission is also personal. His second child, who is now 18, was diagnosed with Friedreich’s ataxia at the age of six. After returning to France from London in 2016, he became involved with AFAF, joined the board in 2018 and became President of the association in 2023.

He now balances his professional work in the software industry with his role at AFAF and his responsibilities as a caregiver.

AFAF is a long-standing French patient association focused on Friedreich’s ataxia.

Rouillon said the organization has around 1,000 registered paid members, including approximately 500 Friedreich’s ataxia patients. It is run by a board of 18 volunteers and, since 2023, has also had one employee. The association works with both a scientific advisory board and a medical and paramedical advisory board.

Its mission is built around three core pillars: funding research, supporting families and raising awareness.

The first priority is research. Because there is still no cure for Friedreich’s ataxia, AFAF funds three to four research projects each year. Over the past decade, Rouillon said the association has invested around €2 million ($2.32 million) in research.

The second priority is direct support for patients and families. AFAF provides free services to members, including psychological support, social support, a support line and help with communication. Rouillon said the association is also looking to expand services in areas such as occupational therapy and speech therapy.

The third pillar is awareness and education. AFAF provides information for patients, caregivers and healthcare professionals, while also working to ensure that Friedreich’s ataxia remains visible within the broader rare disease and life sciences communities.

“In terms of awareness, we’re also launching an ambassador program, so we have many things we want to focus on,” he said.

For Rouillon, research progress must be paired with practical support that improves quality of life today. While drug development is essential, patients continue to face everyday challenges that may not always be fully addressed by clinical endpoints.

AFAF’s future focus areas include vision, hearing, pain, fatigue, vocal tools, economic evaluation of future treatments and services that support daily functioning. These areas reflect the broad systemic burden of Friedreich’s ataxia and the need for care models that look beyond disease progression alone.

This is especially important as the field moves from its first approved therapy toward a wider pipeline that may include additional disease-modifying approaches, gene therapies and technologies to support earlier diagnosis.

Rouillon said the long-term goal is for Friedreich’s ataxia to disappear, but there are many steps between slowing progression and curing the disease. “We need to continue to slow down the progression, to reverse the symptoms and to start really to cure people,” he said.

Like many rare disease organizations, AFAF’s awareness work starts with connection. Rouillon emphasized that creating relationships between patients, families, clinicians and researchers is central to the association’s role.

AFAF maintains an online presence across social media platforms, but it also continues to publish a quarterly printed magazine called Espoir, which means “hope” in French. While print may seem less modern, Rouillon said it remains important for members who value having information in a physical format.

The association also supports local initiatives organized with members, including trails, theater plays, golf events and other community activities. Regional meetings help foster local collaboration, while AFAF’s annual assembly brings together around 200 people, including families, clinicians and researchers.

These events serve multiple purposes: they provide education, build community and help ensure that patients and families are part of the conversation around research and care.

AFAF also works closely with other patient organizations and advocacy groups. In France, the association collaborates with groups focused on ataxias more broadly, as Friedreich’s ataxia is part of a larger family of ataxia disorders. AFAF also works with rare disease organizations in France.

At the European level, AFAF is a member of EURORDIS and participates in Euroataxia, which brings together ataxia associations across Europe. Rouillon said AFAF works with organizations in countries including the UK, Germany, the Netherlands, Greece, Spain, Portugal and Belgium. Globally, it also has a long-standing partnership with the Friedreich’s Ataxia Research Alliance (FARA) in the US.

That collaborative model is particularly important in rare diseases, where patient populations are small, expertise may be distributed across countries and research progress often depends on coordination between advocacy groups, clinicians, researchers, companies and regulators.

“Although there are many ways that the disease is handled across the world in terms of care, state support, etc., in the end it is the same disease wherever the patients are located,” Rouillon said.

He summarized the need for collaboration with a familiar phrase: “Alone you go fast, but together you go far.”

Rouillon said the broader life sciences community can support AFAF by helping raise awareness, strengthening collaboration and supporting concrete projects that improve patients’ lives.

While major clinical trials require significant investment, he emphasized that smaller, practical projects can also have a meaningful impact. These may include support services, tools for communication, research into symptoms such as fatigue and pain and programs that help families navigate daily care.

AFAF is also working to increase fundraising capacity. Rouillon said the association is hiring a fundraiser because it needs additional resources to pursue the projects it has identified for its members.

“We have a lot of ideas,” he said. “We don’t have enough funds.”

For AFAF, the challenge is not only to fund the next scientific breakthrough, but to ensure that patients and families are supported while the research continues.

As the Friedreich’s ataxia field enters a new phase, with the first approved therapy now available and additional approaches in development, advocacy groups like AFAF remain central to keeping patient needs at the forefront.

The organization’s work connects research with lived experience, transforms rare disease isolation into community and helps ensure that progress is measured not only by therapies approved, but by lives improved.