Beyond Achondroplasia

Growing together with Clara

BioMarin pharmaceutical – Achondroplasia clinical trial

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After we had the genetic confirmation of Clara having achondroplasia, on the 2nd October 2012, I started to search about the subject.

One week after that, I knew about the BioMarin´s clinical trial. At that moment, still without accepting her condition, I knew rationally that I had to do something right away. I started reading the biology of achondroplasia, the scientific basis of BioMarin´s molecule, BMN-111, FGFR3, CNP, tirosine kinase … well, I spent and still spend hours during many nights (when time is only mine!) reading about all this, and now, writing too!

And even after reading in sites, groups, Facebook, many doubts, stir and rejection around this new and only one (until now) potential treatment, I still keep my goal very clear: getting Clara in the trial.

Parents choose for their children simple and complex things in daily basis, always having in mind that what they do is what they think is best for their children, and being Clara´s parents, pursuing this we know that we are doing what we find is the best for her and will reduce/minimize pathologies that she  already has and others she can develop because she has achondroplasia.

An excerpt taken from BioMarin official site:

Program Overview

BioMarin has developed a version of the natural human peptide, C-type natriuretic peptide (CNP) that is more stable than the original form. BioMarin’s analog version of this peptide is currently called BMN-111. CNP has a receptor in the growth plate, and along with the fibroblast growth factor receptor 3 (FGFR3), that regulates normal bone growth. BMN-111 has the potential for improving some of the bone related medical complications of Achondroplasia, and increasing bone growth. Daily subcutaneous injections of BMN-111 have previously been tested in mouse models of Achondroplasia.

BMN-111 at a Glance

  • In 2012, BioMarin initiated a Phase 1 study, which is being conducted in adult volunteers without Achondroplasia, to inform the starting dose and regimen for future studies. A Phase 2 pediatric study in children with Achondroplasia is scheduled to start in the last quarter of 2012 or the first quarter of 2013.

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