Friedreich's Ataxia Insights

Ataxia UKApr 24, 2025

The UK medicines regulator (MHRA) has approved the first treatment for Friedreich’s ataxia (FA), Omaveloxolone (Skyclarys).

On 23 April 2025, the MHRA approved Omaveloxolone for the treatment of those aged 16 and over with FA in the UK.

In response to the announcement, Ataxia UK’s Chief Executive Sue Millman says,

‘This is a huge milestone for the FA community, and Ataxia UK is delighted that we are now one step closer to Omaveloxolone being made available to adults with FA in the UK. Ataxia UK will continue to do everything we can to ensure that people with FA in the UK access to the drug at the earliest possible opportunity.’

Prof Giunti, Head of the Ataxia UK-accredited Ataxia Centre in London says,

‘We at the London Ataxia Centre UCL/UCLH are very proud to have contributed to this milestone in Friedreich’s ataxia history with our preclinical and clinical data that were crucial to the success of the trial.’

Read the press release from the MHRA here: https://ow.ly/fFNB50VHoPb.

Read more about Omaveloxolone on the 'Omav Updates' page of our website here: https://ow.ly/XFRV50VHoP9.

Update on NICE:

As we have reported in the past, Omaveloxolone was under evaluation by NICE, the body that oversees reimbursement of medicines in England and Wales. Unfortunately, we have been told today that Biogen has taken the decision to withdraw from this evaluation following discussions with NICE. During their discussions NICE had indicated to Biogen that they would not proceed the evaluation to the committee stage, when the patient and clinical community would have had the opportunity to highlight the unmet need in FA and the potential of the treatment.

Read the statement from Biogen to Ataxia UK here: https://ow.ly/UyOx50VHoPa.

Although this is really disappointing news, Biogen are committed to identifying a solution that enables broad access to Omaveloxolone across the UK funded by the NHS. As soon as we have more information on timelines, we will provide an update.

National Ataxia FoundationApr 25, 2025

April 25th is National DNA Day to commemorate the discovery of DNA's Double Helix Structure in 1953, as well as the completion of the Human Genome Project in 2003. Our knowledge of DNA has grown considerably in less than a century. When did researchers start discovering the genes that cause hereditary Ataxias though?

The first Ataxia gene was discovered in 1993 by Dr. Huda Yahya Zoghbi and Dr. Harry Orr. Since then, scientists have continued to unlock the genetic secrets of Ataxia as they work toward developing treatments and eventually a cure. Check out Image 2 to see when some of the genes responsible for various types of Ataxia were discovered in our DNA timeline.

You can continue to learn about the genetics behind Ataxia, including information about Genetic testing, on our newly updated Genetics webpage: Ataxia.org/Genetics

Cure FAApr 24, 2025

This morning, FARA President and co-founder Ron Bartek spoke on a panel at the World Orphan Drug Congress USA in Boston. He shared his insights in a panel discussion about 'Priorities, Policies and Impact on Patients Living with Rare Disease' along with panelists Christoph Glaetzer, Chief Global Value and Access Officer at Johnson & Johnson Innovative Medicine, and Victoria Gemme, Director of Policy and Regulatory Affairs at National Organization for Rare Disorders (NORD). The panel was moderated by Jayson Slotnik, Partner at Health Policy Strategies, LLC.

The World Orphan Drug Congress USA fosters key collaborations for rare disease patients and orphan drug developers, defining event for the rare disease and orphan drug space globally.