Friedreich's Ataxia (FRDA), a rare inherited disorder affecting the nervous system and muscles, continues to challenge patients and healthcare providers in India. Characterized by a range of debilitating symptoms including difficulty walking, loss of coordination, muscle weakness, speech problems, and heart disease, FRDA significantly impairs the quality of life of those afflicted. Over time, the progressive nature of the disease often leads to severe disability, with most patients eventually requiring wheelchairs and facing life-threatening complications such as cardiomyopathy and diabetes.

The root cause of FRDA is mutations in the FXN gene, which result in reduced levels of the protein frataxin. This deficiency leads to the degeneration of nerve and muscle cells, causing the gradual but relentless progression of symptoms. Typically, FRDA symptoms begin in childhood or adolescence and worsen over time.

In a significant medical breakthrough, the drug Omaveloxolone has recently been approved for the treatment of FRDA. Omaveloxolone mitigates the effects of the disease by reducing oxidative stress and inflammation, thereby slowing its progression and improving motor function in patients. Despite this promising development, Omaveloxolone remains unavailable in India, creating a significant barrier for patients who might benefit from the treatment. The high cost of the drug further exacerbates the issue, making it inaccessible to many.

Efforts are underway to make Omaveloxolone available and affordable for all patients with FRDA in India. Advocacy groups and healthcare providers are pushing for regulatory approval and price reductions to ensure equitable access to this life-changing medication.

In parallel with these efforts, the Department of Neurology at AIIMS, led by Dr. Achal Kumar Srivastava, is collaborating with the Friedreich’s Ataxia Research Alliance (FARA) in the USA on a global natural history study to track the progression of the disease. This research aims to deepen understanding of FRDA and improve patient outcomes through better-targeted treatments.

To further these efforts, AIIMS will host a two-day event in New Delhi on June 24th and 25th, 2024. This event will feature discussions on ongoing research, including a visit from FARA representatives, and will include a patient engagement program. The initiative underscores the commitment of Indian researchers and international collaborators to advance the fight against FRDA and improve the lives of those affected by this debilitating condition.