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Emerging research and potential treatments in achondroplasia and other skeletal dysplasias
By Ericka Okenfuss, MS, Lifetime Member, Medical Resource Director, Medical Advisory Board Member.
With the discovery of the genetic causes for many of the skeletal dysplasias (forms of dwarfism), much research has been dedicated to understanding how the specific genetic mutations affect bone and its growth. Researchers are figuring out how altering these pathways might lead to increased growth in people with skeletal dysplasias. Making bones grow in individuals with skeletal dysplasias is not just about final adult height, but also reducing the medical complications that often come along with dwarfism. The purpose of this article is to help inform LPA members on the efforts currently being made to understand this research and how it may affect us in the near future.
Biomarin’s stated mission is to be a company that “develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions.” They have developed drug treatments (not cures) for multiple genetic conditions, including two of the mucopolysaccharidosis (MPS) conditions (LPA has members with these conditions).
What is BioMarin hoping to do for individuals with achondroplasia?
BioMarin has developed a drug and they believe it will increase bone growth in individuals with achondroplasia. They hope not just to see growth in the bones of the arms and legs, but also in the spine, skull, face, chest and other bony areas of the body that contribute to medical issues in achondroplasia. With potential growth in these other bones, they hope to see a decrease in the serious complications of achondroplasia, such as spinal stenosis, foramen magnum (opening at the base of the skull) stenosis/compression, obstructive sleep apnea and ear infections.
How does the drug work?
BioMarin’s drug is a molecule that works in the same pathway as FGFR3. Their drug, called BMN-111, has been shown to block the effects of too much signaling from the achondroplasia FGFR3 mutation. The idea is that adding a green light to the growth pathway of FGFR3 will hopefully make growth closer to average.
What does the drug do in animals?
What is the current timeline for the testing and marketing of this drug?
BioMarin is currently testing the BMN-111 drug in average statured adults to determine if it is safe for humans. Once it is considered by the FDA (US Food and Drug Administration) to be safe, BioMarin intends to begin a trial in children with achondroplasia. They hope to start this in late 2012 or early 2013. In the study, children with achondroplasia will either receive the drug or a placebo for 12 months. During that time, the patient would be evaluated for changes in growth, their proportions (by measurements), the way the bones look on x-rays, the size of the foramen magnum and other parameters. If the first phase proves the drug is safe and there are no serious side effects noted in the initial months of the second phase, BioMarin hopes to start testing the effects of this drug on the foramen magnum in babies with achondroplasia who are at highest risk for this complication.
If this drug works, what might it be able to do?
What other research is there?
Note from LPA: Little People of America does not endorse the work of BioMarin or any related company that pursues dwarfism research. At this time, LPA’s goal is to stay updated on these activities and to keep the membership informed. As more information about such research becomes available, LPA plans to develop position papers related to research developments.