Wednesday, January 8, 2014

Treating achondroplasia: second year online

The Acondroplasia - Achondroplasia blog is reaching its second year online

I decided to start the blog on January 2012 after more than three years studying the molecular basis of achondroplasia and the potential therapies disclosed at that time. By meeting with fibroblast growth factor receptor 3 (FGFR3) and achondroplasia investigators around the world and also with advocacy groups representatives, I learned that there was few integrated information about the research progress, so I thought the blog could help on this. Understand me, a number of excellent reviews have been published in the last years, where progress on achondroplasia is discussed. However, these reviews are limited to what is completely consolidated, with little space for what is considered excessively new. The blog tries to bring the news faster.

Four years ago, apart from the first studies published by the Israelian group of Dr. Yayon back in 2003, to the C-type natriuretic peptide (CNP) studies performed by the Japanese group leaded by Dr Nakao, and the articles exploring the use of parathyroid hormone (PTH) in achondroplasia, there was not much more to look for in the field.

However, in the last three years a wealth of new strategies has emerged. We have learned about at least two new different antibodies directed against FGFR3. We have been introduced to two peptide-based potential therapies; to new small molecules designed to block FGFR3, such as NF449 and A-31, or enzymes in the FGFR3 signaling pathway; to a compelling ligand trap strategy developed by French investigators (sFGFR3). And finally, we witnessed the arrival of the first more concrete potential pharmacological therapy for achondroplasia, which has reached the clinical development phase, the CNP analogue BMN-111.

Why, despite this expressive number of potential therapies becoming available and with the exception of BMN-111, don't we see them progressing to what is called clinical development?

Because in many situations, results obtained in cell cultures or small in vivo models can't be consistently reproduced in larger animals, or new safety information emerges that prevents the compound to progress in its development. A good example of this situation is given by the antibody PRO-001, explored by Dr Yayon more than 10 years ago, which never reached clinical development for achondroplasia.

But this is not the only reason for failure. Research in achondroplasia is relatively small, compared to what is devoted to other forms of rare conditions, so some of those potential assets may never receive enough attention or investment to be developed further.

Notwithstanding, things don't end with BMN-111 and we keep watching the arrival of more potential strategies. I always have in mind the goal of this blog, which is to share information about them and I hope this initiative helps interested people to gain knowledge and to become aware that there are solutions in the horizon. With knowledge and awareness comes insight and the willing for action.

Action may be our ability to influence key stakeholders, those who can directly drive  investment in research.

Action may come in the form of contributions for institutions like Growing Stronger in US, or Fundación Alpe in Spain, or other large non-profit organizations across the globe.

Action can also be represented by our participation in global initiatives promoted by these organizations, such as the Rare Disease Day 2014.

The Rare Disease Day 2014

I sincerely hope you find this blog useful for you. Thanks for your visit! 


I am grateful for the constant support given by Maria Cristina Terceros who has been responsible for the translation of most of the texts of this blog to Spanish. 


During these two years, the blog received more than 38000 real visits from people located in at least 115 countries. 


You can easily find detailed information about all compounds cited here and also about clinical development visiting your preferred language page, which has a button on the top of this page. There you will find links for all articles published in this blog.

The Reference page lists free access scientific articles, most addressing compounds cited here.

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