Baby boy saved by the most expensive medicine in the world

At three months old, Tuan Kiet, from Bac Ninh, showed signs of muscle weakness and was taken to the National Children's Hospital by his parents, who diagnosed him with spinal muscular atrophy. His older brother, Viet Anh, who has been in a wheelchair for 18 years, also has the disease.

Spinal muscular atrophy is an autosomal recessive genetic disease that causes motor degeneration and early death due to respiratory muscle paralysis, especially in young children. Children with type 1 spinal muscular atrophy (the common type) only live about two years.

Ms. Hanh, mother of Tuan Kiet and Viet Anh, said that both children had symptoms of having legs smaller than their bodies, but Viet Anh could not sit even though he was 8 months old at that time. The mother took her child to the nutrition hospital for examination, the doctor determined that he was calcium deficient, and gave him many courses of medication but there was no progress. After that, the boy was diagnosed with spinal muscular atrophy, which could only be treated with physical therapy, as there was no cure for this disease in 2007.

Fortunately, by 2019, doctors around the world were using a gene replacement method called Zolgensma, but only for children under two years old. The drug was developed by AveXis, a Novartis subsidiary, and cost $2.1 million (about 48.6 billion VND) per dose, the most expensive in the world at the time of its launch.

Zolgensma helps children breathe without machines, sit up, crawl and walk with just one infusion. The latest data shows that Zolgensma helps children with spinal muscular atrophy type 1 to quickly and sustainably improve motor function and prolong life.

"This drug costs up to 50 billion, used once in a lifetime, the mechanism of action is to replace the diseased gene, bringing the normal gene into the spinal cord," Dr. Nguyen Ngoc Khanh, Deputy Director of the Center for Endocrinology - Metabolism - Genetics - Molecular Therapy, said on May 15. Due to the high cost, this therapy is a dream for most Vietnamese patients.

However, thanks to participating in the Novartis Treatment Access Expansion Program, every two weeks, the National Children's Hospital sends patient codes to AveXis to participate in a lottery, looking for a chance to "win" the world's most expensive drug. Novartis implemented the program to meet the high demand in countries that have not approved Zolgensma. The form of drug donation is a lottery, randomly selecting patients to receive the drug.

Four months after the lottery results were announced, the drug was brought to Vietnam. At the end of 2021, the drug was infused into Tuan Kiet's body for an hour, under the supervision of dozens of medical staff.

"We had to calculate very carefully when giving the medicine to the child's body because just one minute of carelessness can not only affect the child's health but also cause the single dose of medicine to be ineffective," said Associate Professor, Dr. Vu Chi Dung, Director of the Center for Endocrinology - Metabolism - Genetics - Molecular Therapy.

In addition, Zolgensma is a rare drug, currently only licensed for circulation in the US, Canada, Japan and the EU, and has not been approved in Vietnam, so the journey of the drug to children goes through many complicated steps. In particular, Zolgensma only has a shelf life of two weeks from the time of packaging, so doctors must ensure that there are no problems so that the drug arrives in Vietnam on time.

After receiving the medication, Tuan Kiet was prescribed rehabilitation exercises to improve his muscle strength and breathing. Half a year later, the patient's movements had improved dramatically, he could sit alone, swing his legs and push himself in a hammock. The signs of spinal muscular atrophy had completely disappeared, opening a new chapter in the child's life.

After Tuan Kiet, in 2022 and 2023, 6 children were lucky to have the medicine. Currently, the National Children's Hospital has 14 children with spinal muscular atrophy waiting for the medicine, receiving symptomatic treatment to maintain and support. Doctor Khanh said the success rate is very rare, because each year, the program only provides 50 bottles but there are many children in many countries participating.

Zolgensma is free for spinal muscular atrophy patients under two years old. Photo: Provided by the hospital

According to Dr. Khanh, 80% of rare diseases are caused by genetics, appearing very early, of which 50-75% appear in the newborn to two-year-old period. In addition to the group with spinal muscular atrophy, the National Children's Hospital also treats children with other rare diseases such as Pompe, with an incidence rate of 1/40,000, causing hypertrophy of the heart muscle leading to heart failure; congenital adrenal hyperplasia; congenital immunodeficiency...

However, drugs to treat this group of diseases are rare, even non-existent. Some types such as enzyme replacement molecular therapy, gene replacement are very expensive, up to tens of billions of dong per dose, most families cannot access.

"In addition, when importing any medicine, there is a separate process, so children have to wait, some have to wait a year for medicine, their health is much worse, and they miss the opportunity for treatment," said Dr. Khanh.

For rare drugs, the Ministry of Health has developed a list of drugs in short supply and at risk of shortage to proactively ensure the supply of these drugs. The Ministry also proposed to grant import licenses for drugs in the rare list even though they do not have a circulation registration certificate and do not meet the treatment needs of medical examination and treatment facilities; allowing the transfer of these drugs between medical examination and treatment facilities. The approval and appraisal process is also prioritized, fast, and accepts applications even when the data is not complete according to regulations.

According to VnExpress