US approves £650 daily jab cure for dwarfism, but it won’t be rolled out on NHS until 2023
The first treatment for the most common cause of dwarfism has been approved in the US, but Britain will have to wait until 2023 to see if it will be available on the NHS.
Vosoritide, a once-daily injection, has been given the green light from the U.S. Food and Drug Administration (FDA) for use in children over the age of five with achondroplasia.
The US health authorities said 10,000 children will benefit from the drug being approved and it is expected to be available from mid-December.
Achondroplasia is the cause of eight in 10 cases of dwarfism, which affects one in 25,000 births each year, and can lead to life-threatening conditions such as fluid buildup in the brain, although the vast majority will have a normal life expectancy.
Children get the injection — which costs about £240,000 ($320,000) per patient — over the course of a year.
The drug works by reversing a genetic abnormality that causes a gene responsible for bone growth to become overactive and stunt growth.
A clinical trial of vosoritide, the results of which were published last September, saw patients given the drug grow an inch more on average than the children given a placebo.
Part of the global trial was conducted at Guy’s and St Thomas NHS Trust in London.
Vosoritide is still undergoing a clinical and cost-effectiveness assessment by the NHS’s medical watchdog. An update on the National Institute for Health and Care Excellence (NICE) website said the next phase of the process won’t happen until 2023.
MailOnline contacted NICE for more information on why this is the case.
The US Food and Drug Administration has approved a drug to treat the most common form of dwarfism, but patients with the condition in the UK may have to wait until 2023 before it can be approved for use on the NHS
There are about 7,000 people with some form of dwarfism in the UK, the majority of which are achondroplasia. It is not known how many would be eligible for vosoritide treatment if it was approved in the UK.
Achondroplasia occurs on average in one in 25,000 births, meaning around 28 children are born with the condition in the UK each year.
In an update last November, NICE said: “Following an update from the company that develops vosoritide, NICE has agreed that it is not appropriate to hold a reconnaissance exercise at this time.”
How does vosoritide work?
Vosoritide works by treating the bone inhibition associated with achondroplasia.
A person with achondroplasia has an overactive gene that regulates the growth of their bones called fibroblast growth factor receptor 3.
Normally, this gene performs its function correctly to stop the growth of bones when they have reached the correct shape.
However, in a person with achondroplasia, this gene is overactivated, reducing bone growth, leading to dwarfism.
Vosoritide essentially counteracts this gene, binding to it and preventing it from working, with the net result of encouraging bone growth and a child’s development along more normal lines.
“The scoping exercise will be moved to a later date in 2023.”
NICE did not provide further details on the nature of the update from the company that makes vosoritide, by US biotech BioMarin Pharmaceutical, that led to the delay.
The UK’s delay in reviewing vosoritide makes it an outlier compared to its neighbors with the drug approved for use in the EU in August this year.
The FDA’s director of general endocrinology, Dr. Theresa Kehoe, said more than 10,000 children in the US will benefit from the drug’s approval.
“With this action, children with short stature due to achondroplasia have a treatment option that addresses the underlying cause of their short stature.”
Jean-Jacques Bienaimé, CEO of BioMarin Pharmaceutical, welcomed the FDA approval and said the drug will be available in the US by the middle of next month.
“We thank the FDA for recognizing its value as the first therapeutic treatment option for children with achondroplasia,” he said.
The company also announced that it is seeking approval for the drug in Japan, Australia and Brazil, but made no mention of plans in the UK.
Vosoritide has been controversial in the dwarfism community, with some organizations arguing that the focus on treating height and not on other health problems that can occur with achondroplasia is futile.
Health problems associated with achondroplasia such as hearing loss, sleep apnea and life-threatening skeletal and fluid problems in the brain.
The charity Restricted Growth Association UK has previously said it would not support the drug if the only benefit of the treatment was the extra length it gave participants.
Achondroplasia is estimated to occur in one in 25,000 births worldwide. People born with the condition have a normal-sized “trunk” or trunk, but their limbs are proportionally smaller.
They may also have a large head with a prominent forehead and flattened bridge of the nose, greater curvature of the lower back, and sometimes exceptionally flexible joints.
The average height of an adult with achondroplasia is about four feet in most people with the condition born to average-sized parents.
Although children with achondroplasia may develop some motor skills and mobility more slowly due to the combination of a heavier head and shorter arms and legs, both life expectancy and intelligence are not affected.
It is the most common cause of dwarfism, accounting for seven to eight out of 10 cases.
WHAT IS DWARPHISM?
Dwarfism is a general term used to cover a range of conditions that result in the medical term of restricted growth.
There are two main types of limited growth:
- Proportionate short stature (PSS) – a general lack of growth, in which the length of the trunk and limbs are in proportion
- Disproportionately short stature (DSS) – where the limbs are shorter or out of proportion to other parts of the body
Achondroplasia is a DSS type of dwarfism and is the most common cause of the condition.
Some people with limited growth not only have short stature, but also have other physical problems, such as bent legs or an unusually curved spine.
However, most people have no other serious problems. They can often lead relatively normal lives and have a normal life expectancy.
Source: NHS Choices