According to a story from BBC, nine year old Sam Short has been trying an experimental drug for three years that aims to improve his growth. This is because he was born with achondroplasia, which is the most common type of dwarfism. While part of the goal is for Sam to grow taller, the primary objective with the treatment is healthier, safer growth patterns that will allow him to develop more healthily.
Dwarfism in humans is defined as an adult height of less than 4 feet 10 inches. This short height is usually the result of a genetic disorder. Some people with a clinically diagnosed condition that causes dwarfism may be taller than the 4 foot 10 inches. There are around 200 different medical conditions that can cause dwarfism. Achondroplasia is the most common disorder that causes dwarfism. In this condition it is characterized by a longer trunk and shortened upper arms and legs. It affects anywhere from one in every 26,000 to one in every 40,000 people. Achondroplasia and many of the other most common causes of dwarfism are classified as skeletal dysplasias which cause bone to grow abnormally. Many potentially harmful symptoms may appear alongside dwarfism such as breathing issues, joint stiffness, arthritis, back pain, teeth crowding, and deformities such as clubbed feet or cleft palate. To learn more about dwarfism, click here.
Preventing Harmful Growth Patterns
The pattern of growth in dwarfism, particularly of the spine and legs, can lead to more problematic medical issues later in life. Sometimes the spine becomes too curved or the patient may develop bowed legs. These patterns can cause walking issues and sometimes surgery is required to reshape the bones. In the year before he started the trial, Sam grew just one inch, but in his first year with the treatment, he grew two. The treatment has also caused his limbs to be a bit more proportional and has also boosted his running speed.
Twelve year old Tory English of Australia is also participating in the trial. The drug is called vosoritide and is administered via a daily injection. It intervenes in the mutation affecting the FGFR3 gene that normally impairs growth in kids with dwarfism.
So far the findings from the trial are promising and the drug does not appear to cause any serious adverse effects. However, the long term benefits of the treatment may only be fully understood when these patients reach adult age.