First treatment for rare disease approved by UK medicines regulator

The first ever treatment for the rare neurodegenerative disease Friedreich’s ataxia – for which UCLH and UCL led the UK trial – has been approved for use in the UK by the medicines’ regulator.

The Medicines and Healthcare products Regulatory Agency (MHRA) approved the drug Omaveloxolone (Omav) for the treatment of Friedreich’s ataxia in those aged 16 and over. This follows approval from regulators in the United States in 2022 and the European Union in 2024.

Approval from the National Institute for Health and Care Excellence (NICE) is now needed before patients on the NHS can receive the drug.

Professor Paola Giunti (Head of the Ataxia Centre at UCLH and at the UCL Queen Square Institute of Neurology) and her team were instrumental in the research behind the drug - which is taken as an oral capsule – by leading the UK arm of the global trial.

Professor Giunti said: “We hope to see NICE approval for this drug soon as it is much needed to bring the drug to all our patients. We are in debt to all our patients who enthusiastically contributed to all the research we do at the UCL Ataxia Centre including this trial.”

Friedreich’s ataxia is a genetic condition that typically emerges in childhood and causes progressive loss of coordination, muscle weakness, cardiac weakness, diabetes, curvature of the spine and fatigue, often leading to wheelchair reliance, and premature death.

The trial, which involved 103 patients, showed that patients treated with the drug scored better on tests of neurological function than patients who were treated with a placebo after 48 weeks of treatment. 

The study was conducted at the NIHR UCLH Clinical Research Facility (CRF) site located within the National Hospital for Neurology and Neurosurgery, Queen Square. The trial, supported by the NIHR UCLH Biomedical Research Centre, was delivered in collaboration with Reata Pharmaceuticals – now Biogen.

CRF Director Professor Vincenzo Libri said: “This breakthrough, supported by the NIHR UCLH Clinical Research Facility, offers new hope for those living with this devastating and debilitating condition.”

The mother of the youngest participant included in the trial, said: “My son Max has gained so much benefit from taking Omav as part of the clinical trial. His speech, dexterity, fatigue levels and more have all been positively affected by the drug.  Max was the very last person to be accepted on to the clinical trial, and at just 16 years old, he was the youngest too. Omav is truly a life-changing drug and I sincerely hope a great many more people get to experience the benefits. Thanks to Professor Giunti and her team, we are now one step closer to that becoming a reality. She is amazing and so is this drug.”