Dubai: Hospital saves 69 lives with Dh10-million ‘wonder drug’ in less than 3 years
Dubai: Hospital saves 69 lives with Dh10-million ‘wonder drug’ in less than 3 years
Spinal muscular atrophy (SMA) is a rare genetic disease leading to the loss of nerve cells in the spinal cord called motor neurons, which control the movement of muscles.
Over time, the condition, which mostly affects infants and children, causes muscles to become weaker and waste away. And gradually it gets worse.
While there is no cure for this dreadful condition, the ray of hope comes in the form of gene replacement therapy. However, the lifesaving one-time dose comes with a price tag of around Dh8-10 million.
Back in November 2020, Dubai’s Medcare Women and Children Hospital became the first healthcare provider in the Mena region to offer free gene therapy to two infants suffering from SMA type 1 as part of the Global Managed Access Programme by Novartis.
Though the lottery system for complementary treatment ceased to exist, the hospital has been receiving a lot of patients, mainly from countries like Turkey, Romania, Russia, Belarus, Nepal, and Iran among others.
By the end of this month, the hospital has treated 69 children with gene replacement therapy, with three cases in August alone.
Asked how the hospital is receiving and managing such a high volume of patients, given the expensive nature of the treatment, Dr Vivek Mundada, consultant paediatric neurologist at the hospital, noted that children with SMA need a multidisciplinary approach and the medicine alone is “not a quick fix”.
“SMA affects multiple systems of the affected individual, and it is important that the child is managed by a centre, which has a multidisciplinary team. Many children have different healthcare needs,” said Dr Mundada in an interview with Khaleej Times.
“When they come to us for treatment, they are given a package of around 3 to 4 months wherein all their different healthcare needs are addressed alongside the treatment with gene therapy. Approaches like physiotherapy, assessment, and treatment by paediatric orthopaedics, paediatric cardiology, paediatric pulmonologist, paediatric gastroenterologist and other specialists are offered to these children,” he added.
He pointed out that though gene therapy is one of the costliest medicines, and the lottery system has been halted, parents coming from abroad have been able to foot the bill.
“Most of these families have managed to raise funds in their respective countries to cover the cost of this treatment. Medcare alongside offering gene therapy also provides multidisciplinary management for these children and the cost is covered by the families,” he said.
“The other approach is through insurance as some families have managed to get this medicine through their health insurance as well. In some countries, this medicine is given through public funds and by the government but their criteria are different and those who are not eligible but still are suitable for gene therapy can come to Medcare,” he added.
Treatment options in UAE
Asked about the prevalence in the UAE, Dr Mundada noted there are currently “no epidemiological data” of this condition in the country.
“It is said that the worldwide incidence of spinal muscular atrophy is nearly one in every 10,000 live births. However, in the Middle East, incidence of SMA has been reported to range from 10 to 193 per 100,000 births.”
Dr Mundada pointed out that there are three different treatments available in the UAE for this condition.
“One of them is gene replacement therapy, which essentially means replacing a fully functional copy of the missing survival motor neuron 1 (SMN1) gene, which is the root cause of the SMA disease. The SMN1 gene is inserted into a non-infection-causing virus vector called adeno-associated virus (AAV) and this viral vector with the replacement gene is intravenously injected as a single dose into the patient’s blood. The gene then enters targeted body cells and starts producing the missing SMN protein.”
Dr Mundada said the other two options are Risdiplam and Nusinersen.
“Both these medications increase the production of functional protein (SMN) through another gene called SMN2 gene, which is a backup gene. In a healthy individual, this gene only produces 10-15 per cent of SMN and in the affected individual, this is the only source of SMN protein, which is not sufficient.”
“Both these medicines alter the genetic sequence of SMN2, which eventually starts producing more functional SMN protein. Nusinersen is given in the spinal canal with the help of an injection. Initial few doses are spaced a few weeks apart but it is usually given once every four months. Risdiplam is an oral medication in the liquid form and needs to be taken on a regular basis,” he added.
Types of SMA, early diagnosis
Giving a low-down on the four types of SMA, Dr Mundada said Type 1 develops in babies less than six months old and is the most severe type; Type 2 appears in babies who are 7 to 18 months old and is less severe than Type 1; Type 3 develops after 18 months of age and is the least severe type affecting children; and Type 4 affects adults and usually only causes mild problems.
“Infants with type 1 rarely survive beyond two years of life. Most children with type 2 survive into adulthood but their life expectancy is still shortened. Types 3 and 4 do not usually affect life expectancy.”
Elaborating further, Dr Mundada noted that humans carry two copies of all the genes — one inherited from the mother and another from the father.
“When both the copies of the SMN1 gene are absent, that individual suffers from SMA. This is called the ‘autosomal recessive’ pattern of inheritance. Usually, both the parents of the affected person have only one copy of SMN1, and are called ‘carriers’. Such parents have a 25 per cent chance of having a baby affected with SMA.”
“As we now have a treatment, newborn screening (NBS) for SMA in some countries has helped identify babies with this condition early and they can be treated early,” he added, highlighting the fact that early diagnosis and early treatment improves the prognosis of babies with SMA.
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source: khaleejtimes
