Friedreich's Ataxia: from genetic diagnosis to a new treatment perspective
This disease, which evolves over time, involves multiple organs and functions and requires a multidisciplinary approach, is now reimbursed for the first therapy capable of slowing down progression
by Caterina Mariotti *
There is a rare disease that is still too little talked about, but which profoundly changes the lives of those affected from a young age: it is Friedreich's Ataxia. The term ataxia, from the Greek, indicates a 'lack of order', which translates clinically into a loss of coordination and balance.
It is a genetic and neurodegenerative disease that is complex and multi-systemic: in addition to the nervous system, it also involves the heart, the musculoskeletal system and, in some cases, the endocrine system. Initial symptoms affect coordination and balance but can be blurred and unspecific, making the diagnostic pathway long and often tortuous.
Diagnosis first challenge
This is precisely the first clinical challenge. Diagnostic suspicion is still a crucial step, particularly for general practitioners and the first specialists involved. Apparently mild signs - such as clumsiness in movements, difficulty with fine gestures, scoliosis - can be attributed to other, more common conditions. Recognising these signs early on and referring the patient to specialist centres is crucial.
The genetic test
For some years now, the diagnosis can be confirmed with certainty through genetic testing that identifies the fratassin gene mutation. Arriving at a diagnosis and naming the disease means coming out of uncertainty and setting in motion a course of care, which is indispensable for dealing with a pathology that evolves over time, involves several organs and functions, and therefore requires a multidisciplinary approach.
The drug
This is the backdrop to a significant new development in clinical practice: the approval by Aifa-Italian Medicines Agency of the reimbursability of omaveloxolone, the first therapy capable of slowing down the progression of Friedreich's Ataxia. The drug is now prescribable and reimbursable in adult and adolescent patients aged 16 and over, it was announced at a press conference promoted by the global biotechnology company Biogen, which is engaged in research into rare diseases and has made the treatment available.
