The ultra rare disease, from which there is no cure, she was diagnosed at 15 years old. Today there is a cure with omaveloxolone, approved in the USA and being examined by the EMA
I attend the Faculty of Psychological Sciences. I’m a little confused about what I want to do when I grow up, but I would love to help young people and children who have difficulties of all kinds in life, help them to find their way. My dream of being able to make a small space in the world. And then, needless to say, my greatest dream, my eight-year hope of being able to heal and do what for now is precluded. Alessia Corvaia a 22 year old girl. She is a little shy but sunny, full of life.
His hope of being able to mock a harsh fate even in the name: Friedreich’s ataxia. A harsh fate that forced her into a wheelchair and turned every second into a countdown. Inexorable, at least until February 28, World Rare Disease Day. Until the announcement ofU.S. Food and Drug Administration (FDA) approval of omaveloxolonea drug that has been shown in Phase 2 clinical trials to slow the progression of Friedreich’s ataxia by more than 50% in selected patients. Now Alessia’s family is launching an appeal to the Italian institutions: Help us to quickly bring the drug to our country as well.
The history of the disease
Nicholas Friedreichwho gave his name to Alessia’s nightmare, was a German pathologist and neurologist, born and lived in that most turbulent part of the 19th century and full of upheavals even in the scientific world. Medicine is a social scienceand politics nothing but medicine on a grand scale, wrote Rudolf Virchow in 1848. And in 1863, Friedreich described the pathology for the first time in a scientific communication On the degenerative atrophy of the spinal cords.
Ataxia a later denomination. In Greek it means without order. And this is how the disease manifests itself: voluntary movements become uncoordinated, causing loss of balance and difficulty in executing the movements themselves, including those used to articulate speech. An ultra-rare hereditary neurological disease. It affects one in 20,000-50,000 people (5 out of 10,000 in Europe). The onset of symptoms during adolescence. The disease evolves and after 10 years the person is no longer able to walk independently. The presence of diabetes, hypertrophic cardiomyopathy has a negative impact on survival.
Alessia’s meeting
Until 2015, Alessia led a normal life. Like all girls of her age: she ran, she played until that day when you start to lose balance – says the mother, Katia Aracri, 46 years old -. After a few weeks we went to the Niguarda hospital in Milan where they wanted to admit Alessia for tests. On April 24, the diagnosis: Friedreich’s ataxia. Thus began the worst nightmare of our life, our hearts destroyed by this diagnosis. Alessia tries to move forward. Other hospitalizations but in Treviso, in the rehabilitation center of La Nostra Famiglia. She studies, she visits specialists every year and when she is needed she undergoes physiotherapy sessions once or twice a week.
A beautiful family, that of Alessia. They live in the province of Monza and Brianza. Katia works as a sales assistant in a multinational company. Riccardo Ruggieri, the acquired father, merchant. Then there are the three sisters: Chiara, 19, a student, and two 8-year-old twins. The loves of my life, my salvation… Chiara not only my sister my best friend – says Alessia – . The little ones were my strength when the disease took away little pieces of my life, they are the reason for my laughter, with their joy and their ingenuity they manage to lighten the negative side of my whole story.
A girl with a great passion: reading. Classics like Jane Austin and Emily Bronte, but also today’s romance novels or dark romances – he explains -. Books are my escape from everything I’ve been through and living. When everything goes wrong, I just need to smell the pages, leaf through a book or immerse myself in a new story to find a way to turn negative into positive. Reading has always had this power over me.
Causes, symptoms and diagnosis
The genetic defect underlying Friedreich’s ataxia a
mutation of a gene located on chromosome 9 which encodes frataxin, a protein that regulates iron in mitochondria (components of cells that produce energy). As a result, iron builds up within cells causing the production of toxic forms of oxygen that damage cells in the brain, spinal cord and nerves, as well as the heart and pancreas. Since 1997, thanks to the discovery of the X25 gene, genetic tests have been available with which it is possible to confirm the diagnosis in affected people and to identify healthy carriers. prenatal diagnosis can also be made. There are several available treatments to relieve the symptoms of the disease, such as medicines for diabetes and heart problems. Patients are also offered walking aids to enable them to remain as independent as possible and other devices to assist them in daily activities. Speech therapy and physiotherapy also help.
Treatments available
According to the GlobalData clinical trials database, there has been since 2010 a slight increase in drug trials in Friedreich’s ataxia. In 2022, they accounted for 0.19% of drug trials for central nervous system disorders, up from 0.04% in 2010. From the point of view of therapies, however, the first (and only) available so far is precisely omaveloxolone. Among the molecules designed to improve mitochondrial functionality there is also the vatiquinone (or PTC-743 or EPI-743), which for now has only obtained the designation of orphan drug for Friedreich’s ataxia by both the FDA and the EMA, as had already happened for omaveloxolone. However, under study living prets to treat vision loss in children with Friedreich’s ataxia, e CTI-1601 designed to deliver the protein frataxin directly into patients.
As for the USthe indication for omaveloxolone treatment for people with Friederich’s ataxia aged 16 and over. In Europahowever, from Ema they let it be known that the drug has started the evaluation process necessary for any authorization to trade on December 28, 2022 and which will last about a year. Until then, the drug cannot be used except as an orphan.
The appeal: be quick
Just to try to speed up the procedures, Alessia’s family decided to turn to the institutions: This drug is currently only available abroad – underlines Katia -. But my daughter’s disease is progressing day by day and we can’t wait any longer. What matters most in life is the health of a child; the most precious asset. I would like to an appeal, on behalf of us and of all those families who live our nightmare, to the institutions: help us. We feel like acting as a spokesperson for the many families in Italy with patients suffering from this serious disease. We hope for a decisive and rapid reaction from the institutions which must be able to protect patients with the various tools provided, starting from the essential levels of assistance. We ask for your support in recovering the hope and dignity of life of our patients.
Even Alessia continues to hope: How do I live my condition? Good question, I still don’t know. Not easy. There are days when you feel like you’re feeling a bit up and days when you’re down and you don’t know how to get out of it. You learn to live with it, to make friends with it even if there are moments when you cry, you take it out on everyone and you isolate yourself from the world. It’s not impossible to live with it, but I can’t forget what the disease has taken from me and is taking away from me day after day.
May 6, 2023 (change May 6, 2023 | 12:08)
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