Beyond Achondroplasia

Growing together with Clara

October 20, 2016
by inesp.alves
3 Comments

BioMarin presents report on phase 2 study of Vosoritide

BioMarin presented on the 19th October 2016 a press release on the data for Vosoritide in phase 2,  during the ASHG 2016 meeting. There is no overall novelty in this latest press release (19th Oct 2016) when comparing to the previous press … Continue reading

November 20, 2014
by inesp.alves
1 Comment

CNP resistance in achondroplasia

Last month, while talking with Prof. Yayon (one of the world leaders in the research for a treatment for achondroplasia), I asked him about his opinion about the efficacy of BMN-111, and he answered: “Children with achondroplasia have lots of CNP”. Well, … Continue reading

November 1, 2014
by inesp.alves
0 comments

Statins for achondroplasia update

I contacted Professor Noriyuki Tsumaki, the head researcher for the study of the use of statins in achondroplasia, also mentioned in a post here. I kindly got  the following asnwers: “Statins should not be used in children because statins decrease cholesterol, … Continue reading

October 23, 2014
by inesp.alves
1 Comment

Unlock achondroplasia

The online RE(ACT) Community is organized around four main axis dedicated to research on rare and orphan diseases: Learn, Meet, Share and Support. Learn from the knowledge and experience of other researchers and patients; meet other researchers and facilitate the … Continue reading

October 17, 2014
by inesp.alves
2 Comments

Achondroplasia highlights

During three full days, the V International Congress around Achondroplasia and other Skeletal Dysplasia took place in the north of Spain, very well-organized by Alpe Foundation. Several world-renowned experts attended, giving one or more lectures, over 500 people registered, mainly parents … Continue reading

December 17, 2013
by inesp.alves
0 comments

Meclozine – one step closer

Meclozine is a drug in use for decades, and is used for motion sickness, without major adverse effects. And in this September, it became public that a japanese research team was studying meclozine to treat achondroplasia. Yesterday, I was given … Continue reading

May 20, 2013
by inesp.alves
0 comments

Costs and profits around orphan drugs

At the Bloomberg site, an article released on the 23rd January 2012, was written about BioMarin´s achondroplasia treatment and specially the financial involvement of that. Important article to read and to know more the inside of the rare diseases pharmaceutical profits. … Continue reading

May 18, 2013
by inesp.alves
0 comments

BioMarin pharmaceutical – Achondroplasia clinical trial

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 … Continue reading

May 7, 2013
by inesp.alves
0 comments

EMA granted BMN-111 an orphan designation

The ceiling for orphan designation is 5 people affected in 10.000. Achondroplasia in the European Union affects in 2013, 0,42 people in 10.000, existing 21.000 people with achondroplasia in EU (we are 509 million people in EU). EMA, the European … Continue reading

May 2, 2013
by inesp.alves
1 Comment

Discussing choices – Discussão de escolhas

Yesterday, a debate was started in Facebook achondroplasia group. It was about the hypothesis of treating achondroplasia with a new potential therapy using a new compound (BMN-111), similar to a natural one, that exists in condrocites. http://clinicaltrials.gov/show/NCT01603095 Doing a flashback in … Continue reading

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