Treating Achondroplasia: fifth year online

The blog Treating Achondroplasia (www.tinyurl.com/achtion) is completing five years this January.

During all this time I have been publishing articles reviewing the biology of achondroplasia and all potential therapeutic strategies that have already been developed to help children to rescue their bone growth, which is severely affected by the mutation in the FGFR3 gene.

Treating achondroplasia, however, is much more than simply making bones grow to increase the final height.

It is about reducing or preventing the many complications that individuals with achondroplasia will eventually face in life, from foramen magnum stenosis and sleep apnea in early childhood to the many orthopedic complications throughout their lives.

The blog, and by extension, the Achondroplasia group in Facebook, are exclusively dedicated to share with all people interested the knowledge about achondroplasia I have been gathering all over these years.

I try to write the articles translating the hard science jargon into a more readable text (but I feel I might have failed now and then...).

Lately, the blog became a bit more silent, but this has more about the scarce new information coming than due to any other reason. In general, all articles published so far are still up-to-date, and I prefer not to just keep repeating the information already published.

Developing therapies for common diseases is hard, but the investment is high because the potential return is also high. In the rare diseases settings, developing a new medicine is even harder for many reasons. For example, just to stay in the financial side, the population to be treated is small (so less return of investment). Some other challenges are related to the way the same rules and regulations for drug development that are applied to common diseases are also applied to rare disorders.

For instance, the phase 3 study with the C-type natriuretic peptide (CNP) analogue vosoritide, which is the asset more advanced in clinical development for the treatment of achondroplasia, has just started in Australia. The regulators have requested that the developer must follow the current standard phase 3 study design in their trial, so it has a double blind, placebo-controlled design.

Even fully understanding the need for a placebo-controlled study to make sure the (good and bad) effects seen with the drug are really caused by the drug and not by chance, it is hard to see such a design applied in the rare disease settings and specially because, for a child with achondroplasia, this is a race against time. There are other ways to track the efficacy and safety of a drug other than submitting children to placebo for a year to confirm the effects of the experimental drug. This concept can be applied to many other rare conditions (e.g.: think in Duchenne muscular distrophy).

It is becoming more and more evident that the active participation of the interested community, parents and patients, is key to push the development of new solutions for these orphan diseases. There are more than seven thousand rare diseases already classified. The number of individuals with a single disorder is small, but collectively these rare conditions represent a large group that should already have a more powerful voice.

I thank you for all your interest in what I publish here. I sincerely hope it is helping the interested community to understand what is going on in the research to treat achondroplasia and the challenges related to bring these new therapies to the children in need.