Feature
Friedreich’s Ataxia Research Enters a New Era and the OHC is Helping Lead the Way
March 17, 2026
Friedreich’s Ataxia (FA) research is undergoing a pivotal transformation. After decades of focusing on managing the downstream effects of the disease, the field is now shifting toward therapies that address its root cause, a change that is opening new possibilities for patients and aligning closely with the work underway at the Oxford-Harrington Rare Disease Centre (OHC).
A recent BioCentury analysis highlights this turning point, describing how the FA pipeline is moving “beyond mitochondrial bandages” toward therapies designed to restore frataxin (FXN), the protein whose deficiency drives the disease.
From managing damage to fixing the gene
The 2023 accelerated approval of Skyclarys (omaveloxolone) marked a historic milestone as the first approved therapy for FA. The drug works by activating antioxidant pathways and improving mitochondrial function, helping cells better cope with the consequences of FXN deficiency.
However, as BioCentury notes, many similar approaches aimed at mitigating oxidative stress and mitochondrial dysfunction have struggled to deliver consistent clinical benefit. As a result, the centre of gravity in FA research is shifting upstream toward restoring FXN itself.
The OHC is at the forefront of next-generation FA research
This global transition toward FXN-targeted therapies is strongly reflected in the work of the Oxford-Harrington Rare Disease Centre and its Friedreich’s Ataxia Alliance.
Through the FA Alliance Innovation Fund, the OHC is supporting five pioneering research projects at the University of Oxford, each aligned with the field’s move toward mechanistic and potentially transformative approaches.
These projects include:
-
Esther Becker, Professor of Translational Neuroscience
Investigating FXN locus silencing in FRDA cerebellar organoids for therapeutic intervention -
Natalia Gromak, Associate Professor in Pathology
Design of GAA-repeat proteomics to identify factors interacting with expanded repeats in Friedreich’s Ataxia -
Andrea Németh, Professor and Consultant in Neurogenetics
Fusion of therapeutic AI exercise gaming and motion capture to create a novel digital clinical outcome assessment in FA -
Carlo Rinaldi, Professor of Molecular and Translational Neuroscience and Honorary Consultant Neurologist
Reversing FXN locus silencing via precision epigenetic therapy -
Christopher Toepfer, Associate Professor of Cardiovascular Science
Investigating epigenetic upregulation of FXN in FRDA cardiac organoids for treating FRDA cardiomyopathy.
Professor Carlo Rinaldi, Neurological Disorders Theme lead and Scholar at the OHC, said: “We are at a turning point in Friedreich’s Ataxia research, where the science is finally enabling us to move toward correcting the underlying genetic cause. Through the FA Alliance at Oxford and the FA Alliance Innovation Fund, we’re bringing together the expertise and tools needed to develop precise, mechanism-based therapies that have the potential to fundamentally change the course of this disease.”
Another contribution of the FA Alliance at Oxford is the work of Richard Wade Martins and the company Kaleibe that he co-founded. It aims to use viral vectors that can deliver much larger payloads of DNA for diseases, such as FA and Parkinson's.
Collectively, these efforts mirror the directions highlighted in the BioCentury analysis, particularly the growing emphasis on gene regulation and targeted correction of FXN expression.
The role of philanthropy in unlocking innovation
A key theme emerging from both the global pipeline and OHC’s work is the importance of early-stage, high-risk research. Many of the most promising ideas, including novel gene-editing approaches and epigenetic strategies, require initial support before they can attract larger-scale investment.
The FA Alliance Innovation Fund, established by OHC with philanthropic support, is designed to meet this need. By providing funding alongside drug development expertise, the programme enables researchers to explore bold, innovative concepts that could reshape the treatment landscape.