Friedreich’s Ataxia (FA) is the first area of focus at the OHC. Working with EndFA, the Friedreich’s Ataxia Research Alliance (FARA) and Ataxia UK, our aim is to develop new therapies to treat or cure FA.
What is FA?
Friedreich’s Ataxia, also known as FA or FRDA, is a devastating, progressive, neurological movement disorder affecting multiple organs and cell types in the body. FA affects approximately 1 in 40,000-50,000 people and onset is typically between 10 and 15 years of age.
FA is caused by mutations in the frataxin gene. FA is an autosomal recessive inherited disease, meaning an individual must inherit a faulty copy of the frataxin gene from both of their parents for the disease to manifest. The gene encodes a protein called frataxin which plays an important role in providing cells with the energy they need to function. Individuals with FA have a deficiency in the amount of frataxin protein, which ultimately results in cell death in affected cells. Cells that have a particularly high energy demand, such as neurons (nervous system cells), cardiomyocytes (heart cells) and beta cells (insulin-secreting cells in the pancreas) are most affected. This degeneration of the nervous system, heart and pancreas causes multiple symptoms. Initial symptoms of FA include unsteady posture and frequent falling, with progressive difficulty in walking with gait and limb ataxia (lack of co-ordination and balance). Patients often develop slurred speech, foot deformities and an irregular curvature of the spine (scoliosis). Heart complications (hypertrophic cardiomyopathy) and diabetes mellitus are also involved in the course of the disease. Sadly, the disease of the heart muscle cells can result in heart failure. Patients’ vision and hearing may also be affected.
There is currently no cure for FA, however the US Food and Drug Administration approved the first therapy to slow progression of the disease for 16 year olds and older in February 2023. Despite this major step forward, further effort is absolutely necessary to progress more therapies towards the clinic, particularly for children under 16 years of age.
We aim to exploit the full breadth of University of Oxford and Harrington Discovery Institute expertise to mount a major effort in developing drugs to treat or cure FA. We will aim to develop therapies directed at correcting the underlying genetic cause of FA, as well as investigating new and effective approaches to relieve symptoms and slow progression of this devastating disease.
Friedreich's Ataxia Alliance at Oxford
The Friedreich's Ataxia Alliance at Oxford (FA Alliance) brings together researchers and clinicians from across the University of Oxford and beyond to harness the power of Oxford to successfully develop a therapeutic to cure or treat Friedreich's Axtaxia.
Find out more about Friedreich's Ataxia Alliance at Oxford
- National Organization for Rare Disorders
- Friedreich’s Ataxia Research Alliance
- Ataxia UK