First treatment for rare disease approved by UK 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 the UCL Queen Square Institute of Neurology and at UCLH) and her team have been instrumental in the pre-clinical research behind the drug - which is taken as an oral capsule – by leading the UK arm of the global trial.

Professor Giunti said: “We at UCL and UCLH are very proud to have contributed to this milestone in Friedreich’s ataxia, and very excited about the longstanding partnership we have had with industry aiming to impact the lives of our patients.

“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 affects about 22,000 people worldwide. It 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.

People with Friedreich’s ataxia appear to have reduced levels and activity of a protein called Nrf2, which helps cells respond to oxidative stress. Omav activates the Nrf2 pathway.

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. 

In addition, 136 patients treated with Omav in the three-year open label trial showed 55% reduced progression compared to patients monitored in the natural history study called FA-COMS.

Dr Rosella Abeti (UCL Ataxia Centre and UCL Queen Square Institute of Neurology) said: “We are honoured to have contributed to advancing the research that led to this achievement, with the overarching goal of improving patients’ lives and helping to translate scientific discovery into real hope for those in need.”

The study was conducted at the NIHR UCLH Clinical Research Facility (CRF) site located within the National Hospital for Neurology and Neurosurgery, Queen Square And it was the only site in the UK. The trial team led by Prof Paola Giunti delivered the trial in collaboration with Reata Pharmaceuticals – now Biogen.

UCL’s Translational Research Office (TRO) worked closely with Professor Giunti and the industry partner to advance the research and help deliver innovative therapies through strategic collaboration.

Professor Vincenzo Libri (UCL Queen Square Institute of Neurology), who is also Director of the NIHR UCLH CRF, said: “The approval of Omaveloxolone is a major step forward for Friedreich's ataxia patients. This breakthrough, supported by the NIHR UCLH Clinical Research Facility, offers new hope for those living with this devastating and debilitating condition. A sincere thank you to the patients, carers, and staff who played a crucial role in this study, whose dedication made this achievement possible.”

Professor Michael Hanna (Director of the UCL Queen Square Institute of Neurology) said: "Congratulations to Professor Giunti, Dr Abeti and Professor Libri on their teams' research that led to this breakthrough.

“Developing new therapies for patients with rare and common neurological diseases is a key part of the UCL ION strategic plan, and their continued dedication epitomises everything that we think is important in translational neuroscience at the Institute of Neurology. "

Professor Giunti received funding from the National Institute for Health and Care Research UCLH Biomedical Research Centre (BRC).

Patient story

Jayne, the mother of the youngest patient 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.”

Links

• Professor Paola Giunti's academic profile
• Professor Michael Hanna's academic profile
• Professor Vincenzo Libri's academic profile
• Dr Rosella Abeti's academic profile
• UCL Ataxia Centre
• UCL Queen Square Institute of Neurology
• UCL Brain Sciences

Image

• Credit: Totojang on iStock

Media contact 

Poppy Tombs

E: p.tombs [at] ucl.ac.uk