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08/10/2020

The UCA of Dr. Mikel Sánchez leads the world-level clinical trials of an experimental medicine to treat achondroplasia

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The pediatric unit of the Arthroscopic Surgery Unit of Dr. Mikel Sánchez (UCA, according to the acronym in Spanish) has become a reference in the pharmacological research of achondroplasia, leading all the clinical trials worldwide. All the pharmaceutical companies that are currently developing an experimental medicine that has the potential objective of improving achondroplasia in a general way have chosen doctors Gorka Knörr and Josep Maria de Bergua from our UCA team to lead these projects in Vitoria-Gasteiz as principal investigators and national coordinators.

At the UCA and our pediatric unit, we are carrying out three clinical trials with an experimental medicine to treat and improve the quality of life of children that suffer achondroplasia, a rare disease that causes dwarfism and whose only treatment nowadays is the lengthening of extremities. One in 25,000 children suffers achondroplasia.

After several months working in the observational phase, in which we are working with about 30 minors between 8 and 11 years old, now the phase 2 begins. A nine-year-old boy from Bilbao will be the first in Spain, and one of the first in the world, to start a pharmacological treatment.

The objective of the medicine, as explained by doctors Gorka Knörr and Josep María de Bergua, is to gain growth speed, apart from improving the quality of life and minimizing the complications that people who suffer this genetic disease face throughout their lives. Achondroplasia is not only a matter of height and it carries numerous pathologies.

The phase 2 that begins now consist of finding the lowest, safest, and most effective dose for the medicine to be safe. After the boy from Bilbao who has already started the treatment, another 7 children from various parts of Spain will progressively start this pharmacological clinical trial. Around 90 families have requested to enter the different trials we are carrying out.

One in 25,000 children suffers from achondroplasia, a disease that affects bone growth, with shortness and deformation, and it is the main cause of disproportionate short stature (with a 131cm final average of growth in men and 124cm in women).