The Experimental Drug Vosoritide Can Help People With Short Stature Grow Taller

While a new treatment promises to reduce the impact of achondroplasia (Dwarfism) on future generations, a change in perspective on dwarfism is essential to improve the quality of life of the current generation.Measuring Height

Dwarfism

A new future is taking shape for people with achondroplasia. Defined as a bone disease leading to abnormally low tubular bone development, achondroplasia is the most common cause of dwarfism and affects about one in 20,000 births, affecting about 250,000 people worldwide. It is not really a disease, however, because it does not prevent you from leading a normal life. It is a disease to which is added a social stigma caused by the way the sufferers are viewed. Although in some severe cases, deformities of the skull and vertebrae can lead to neurological and/or orthopedic complications in these people, most of them do not have cognitive or physical disabilities.

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However, their quality of life can be severely affected by this social disadvantage caused by the way others see them:  They have a different appearance than others, an easily recognizable morphology that exposes them to exclusion and discrimination simply because of their appearance.  It is a fact that is painful in everyday life for some of them, especially in childhood, when they realize that they are different.

Hope for future generations

This condition is caused by a mutation in the genetic coding of the fibroblast 3 growth factor protein (FGFR3), a receptor for FGF growth factor, which is no longer able to release FGFR3. This sequestration inhibits the growth and differentiation of chondrocytes, the cartilage cells that support bone formation, resulting in a decrease in tubular bone growth. There is currently no effective treatment for this disease, but this could change soon. A new treatment has just been demonstrated in a Phase 3 clinical trial done in 24 hospitals in seven countries (Australia, Germany, Japan, Spain, Turkey, USA, and the UK) that resulted in additional growth of about 1.5 centimeters per year in children aged 5-18 years.

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The clinical study, published in the Lancet magazine in September 2020, used Vorositide, a molecule that mimics a hormone called natriuretic factor C, which is known to stimulate chondrocytes to form bone tissue. As a result, Vorositide is able to force bone growth despite the mutation in FGFR3. “The children who participated in the clinical trial will continue their treatment until they reach their adult size to see if this effect on growth continues over the long term and actually affects their final height,” said Ravi Savarirayan, a specialist in skeletal therapies at Murdoch Paediatric Research Institute (Australia) and lead author of the study. If this is the case, this treatment will have become the first precision therapy for this type of dwarfism helping the sufferers grow taller. Thanks to the very encouraging results, the difficult process of approval by the health authorities in the United States and Europe has begun.

Improving the quality of life of the current generation

Until this treatment is validated and commercialized, there is still an urgent need for action in the fight against social disability, which is caused more by the perception of others than by the medical condition itself.  The situations of people of short stature vary from person to person. It depends very much on their family and social environment, which can help them to lead a quieter everyday life. But this social disability, which begins in early childhood, affects a large proportion of people who are suffering from dwarfism.

According to a study published in the American Journal of Medical Genetics in October 2020, children under 12 years of age with achondroplasia are treated as if they are younger than their age (83%), excluded from social activities such as birthdays (64%) or stigmatized because of their disease (56%). And these situations have a direct emotional impact, making them feel different from others, frustrated, or even depressed.

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Involvement in school is essential to give these people a good sense of self-worth because it is too early to start closing doors on them. In 2020, we will still see cases where parents of young children are asked that it would be better not to include the child in a general curriculum even though they are not suffering from any cognitive and physical disabilities. This is not a question that needs to be asked! It is necessary to adapt the school environment to their needs in order to reduce this social disadvantage, for example with smaller desks for them, but unfortunately, this too remains a struggle for the parents.

After childhood, this social disadvantage continues in the professional field as there are often great fears about their skills and abilities. Few people are familiar with the problem of this disability, but informing people about this disease can have a great impact on changing the way others see it. For example, we don’t have to wait for treatment to make life easier for people of short stature.

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References

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

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