Treating achondroplasia: nine years online

 The blog "Treating achondroplasia" turned nine years old this year. When I started to write the articles for the blog the landscape was completely different: there was really nothing in the horizon towards therapeutic strategies for achondroplasia. Individuals with achondroplasia could only - and, as matter of fact, this is still true today - rely on surgical procedures to correct or improve skeletal problems which come with the typical bone growth impairment caused by the overactive fibroblast growth factor receptor 3 (FGFR3) mutation. Infants with foramen magnum stenosis, children with bowed legs, teens and adults with spinal stenosis sometimes must undergo several surgical interventions to control these and other common neurological and orthopedic complications seen in achondroplasia.

However, things are changing. There are now several potential pharmacological therapies in several stages of development as you can see in the last article published in January in the blog. One of them, vosoritide, is in the last sprint towards approval by two of the most important world regulatory agencies, the European Medicines Agency (EMA) and the Food and Drug Administration (FDA). Others still have to prove their safety and efficacy in clinical trials and most of them should reach the stage where vosoritide is now. If vosoritide data provided by the developer to EMA and FDA is sound and reliable it is expected that it will be approved and made available next year. This will become a turning point. 

Achondroplasia is a genetic disorder of bone development, meaning that the effects of the mutation in FGFR3 are restricted to the life interval when bones grow. FGFR3 is a natural inhibitor of the bone growth process and, because of the mutation, in achondroplasia it is working too much leading to growth arrest.The end of puberty also represents the end of the bone development process. Unfortunately, because of this, adult individuals would have no benefits in receiving a therapy against FGFR3, at least with the intent of achieving bone growth.

Therapies for achondroplasia will benefit children and teenagers and it is expected that the earlier they start a therapy the better would be the outcomes, although this expectation still needs to be confirmed with data coming from the studies in younger children currently ongoing. 

Why is important to start the therapy early?  Because it is during the first two years of life (and specially during the first year) that children experiment their highest growth velocity rate. Of course, achondroplasia is already identifiable before birth but it is unlikely that a pharmacological intervention so early in life will be available soon. It is during the first two years of life that most of the clinical features of achondroplasia will be established so, if a therapy can be initiated early, it might more efficiently reduce or mitigate those features, which in turn might prevent the common complications I mentioned above.

The Treating Achondroplasia blog is active and I will keep publishing updates as relevant information is released. I really hope that the blog is helping the interested reader to better understand achondroplasia, FGFR3 and what to expect with the new therapies. See you soon. ;)

 

Treating Achondroplasia: how to improve the healthcare for achondroplasia

A conference and a survey

A few months ago I was invited to speak at a conference about how the community sees the healthcare and general support for achondroplasia. The conference had clinical and scientific experts from all over the world.

Given my involvement with achondroplasia, I have my own perceptions about the ups and downs of care, but I wanted to have a broader view that I could present to the other experts during my talk. I wanted to hear from families and people who deal directly with health issues, so I started a short survey in three achondroplasia-related groups in Facebook (Fb; two international and one based in Brazil). The survey was not about calculating rates of this and that, but to understand people's view about the healthcare for achondroplasia.

In summary, the purpose of the survey was to gather impressions of what works well and what doesn't when someone needs healthcare or support from the healthcare system. I have extracted the feedback received from Fb group members from different countries around the world and collated them, and also added real testimonies collected from Fb groups. All information that could lead to personal identification was redacted. More than giving my own opinion, the way I presented the data had one single goal, which was to provide the experts in the conference with points-of-view about healthcare that are not frequently shared with them in their daily practice.

Of course, the message, or messages, given during that presentation are far from approaching all aspects involved in the care and support individuals with achondroplasia and their families need and deserve. My talk basically emphasized an important issue people all over the world face when seeking for healthcare and/or support. However, I believe that what I showed was able to move the audience towards the right direction. I promised to publish the results of the survey, which is what I am doing now, by sharing with you the presentation I gave and I am really grateful to all those members that provided their opinions and insights. Thank you!