Monday, February 3, 2020

Onasemnogene abeparovec thrapy for SMA 1

The family of a seriously sick two-month-old baby say they can now afford to help her after people united to donate more than $2 million dollars to help them buy "the most expensive drug in the world."

Two-month-old Matilde was diagnosed six weeks after birth with type 1 spinal muscular atrophy (SMA), a genetic condition that affects one in every 11,000 births, making muscles weaker and causing severe problems with movement.

Babies with type 1 SMA have very weak and floppy arms and legs and have problems moving, eating and swallowing. Children born with the neurodegenerative disease most often die within the first few years of life, usually as a result of serious breathing difficulties.

But a new drug gives hope that Matilde might live. On May 24 the U.S. Food and Drug Administration approved a new gene therapy from Novartis called Zolgensma [onasemnogene abeparvovec]. The only problem—it's priced at $2.1 million.

Not to be deterred, Matilde's parents, who live in Portugal, began a campaign to raise funds for their daughter to receive the treatment. Creating a Facebook page called 'Matilde, a special baby' they explained their daughter's predicament, and shared their bank details publicly.

The page went viral across the country, receiving more than 200,000 likes and followers as people united to raise money for Matilde. The campaign attracted the support of a number of high profile figures in Portugal, including TV presenter Manuel Luís Goucha and professional cyclist Rui Costa.
Two-month-old Matilde was diagnosed with type 1 spinal muscular atrophy. On Tuesday her parents confirmed they had raised enough money to pay for her to receive 'miracle drug' Zolgensma.

The parents announced on Tuesday that they had managed to not just reach but exceed heir target, having raised $2.3 million in just two months. Posting to the Facebook Page to announce the news, Matilde's parents said: "There are still no words in the dictionary that define everything they have done for us.

"We thank you again and we will continue to thank you again and again for your affection and our country is too small for the size of our hearts," they added.

The family have said that any leftover money after paying for Matilde's treatment "will be donated to other families" with the same problem.

Speaking to Newsweek, Matilde's parents said they were delighted and thankful for the people that helped out by contributing towards their cause and spreading the word.

"We feel overwhelmed, it is heart warming knowing and feeling that the Portuguese people are so incredible, we are eternally grateful. We didn't believe that this could actually happen," they said.
Matilde is currently hospitalized in the Hospital Santa María de Lisboa in Lisbon, the nation's capital, and might not be well enough to travel to America for treatment, according to ABC. However, the family may have no choice, as the medicine has yet to be authorized by the European Medicines Agency.

Matilde's parents told Newsweek that AveXis, a subsidiary of Novartis that produces Zolgensma, has been in touch with them about asking the European Medicines Agency to make an exception so that she can be treated in her home country, Portugal Resident reports.

Zolgensma has already been used to save the lives of 19 babies in the U.S. since it was made publicly available, according to Portugal Resident.

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