photo credit to: Fabio de paola/ theguardian
Achondroplasia or dwarfism, UK experimented a cure that gives excellent results. A new treatment could help children with achondroplasia, the most common form of dwarfism, to grow taller and avoid health problems in old age. Samuel Gray is a very brave child about his daily injections. At six and a half, confident and happy, he was a boy who he knew his problem. He made an important decision about his future. His parents had asked him if he wanted to take part in a clinical trial for a drug that could improve some of the conditions associated with achondroplasia. The most common form of dwarfism, with which Samuel was born. Samuel is now nine years old and has grown about 50% faster than the quarter one would expect from a child his age with achondroplasia. – people with achondroplasia tend to have bent legs, which can make walking difficult or painful and may require surgery. “Samuel no; his legs are straight says Mum. Hopefully many children will benefit.
Treatment is in its “early days”, but it is believed to have the potential to change patients’ lives. Earlier this month, the results of the phase three study of vosoritide, the drug Samuel was taking. These drugs were published in the medical journal The Lancet (investigational trials have determined that it is safe). Covering several countries, with 119 children participating. It was proved that those who took the drug for a year grew faster than those who took a placebo. Samuel was one of 10 children involved in the UK trial, led in this country by Dr Melita Irving, a clinical geneticist consultant at Guy’s and St Thomas’ NHS Trust. “I saw a huge difference in those children – says the doctor.” I see benefits in many aspects of their life. Physically, psychologically, functionally and also with respect to their health. The children who were taking vosoritide “grew about 50 percent faster than before,” he adds. “And we proved it was safe and without side effects.”
Achondroplasia is a genetic condition. “It is caused by a very specific change in one of the genes, which means that how bones grow is affected. It has an inhibitory or negative impact on bone growth. The way the drug works is to release that inhibition”. children, including those originally treated with placebo, are now taking the drug, and Irving is participating in research on children under five, including a four-month-old. It is still too early to know how long children will need to take the drug, when is the optimal time to start taking it and what the effects will be in adulthood. The drug’s primary purpose is to improve the quality of life of children with achondroplasia, “says Irving.” Is it improving health by improving the ability to do the normal things we do every day and how do we know if this is achieved? We have to measure something with scientific rigor, so measuring height as an indicator of bone growth and drug response is what we did.
photo credit: Fabio de Paola
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