The short stature and musculoskeletal complications associated with dwarfism could be reversed, a new study has determined. In an experiment, researchers at the Mediterranean Center for Molecular Research in Nice, France were able to restore normal bone growth in mice modified to exhibit the dwarfism-causing condition achondroplasia. Although further trials are required, a human treatment could be available within three to five years.
“This is a first, and although there are more steps we need to take before trials on humans, nothing so far has indicated it couldn’t also work for people with dwarfism,” said study author Elvire Gouze, speaking to The Local. “The treatment is so simple – it’s just the injection of a protein, and the results show it really helped.”
Published in the journal Science, the findings suggest that the introduction of a “decoy protein” could effectively counteract the mutated protein that causes achondroplasia. By preventing binding with the mutant FGFR3 receptor, the decoy sFGFR3 allows normal bone growth to resume. In a mouse model experiment, subjects grew as large as their peers in as little as three weeks.
Gouze told reporters that since three weeks is roughly analogous to 15 human years, the treatment could be administered regularly from early childhood to puberty. This would restrict interference from the mutated protein, allowing children born with achondroplasia to reach their full height.
“We have to do some further testing on mice, for example to see if the treatment can be delayed, or must be implemented right after birth, and then we have to test it on another animal, perhaps a non-human primate,” said Gouze. “But all in all, we could be ready within three to five years to treat humans with this technique.”
That said, the research team stressed that the treatment candidate should not be thought of as a “cure” for some “disease.” Instead, the primary objective is to limit lumbar pain, spinal cord compression, and other debilitating conditions associated with dwarfism. Today, the only treatment option for such complications is surgery, The New York Times reported.
“Remember – the goal is not to eradicate dwarfism, or get rid of little people or anything like that,” she added. “It didn’t just help with height, but it also made a difference with all the other complications.”
Source: Postnatal Soluble FGFR3 Therapy Rescues Achondroplasia Symptoms and Restores Bone Growth in Mice. Stéphanie Garcia, Béatrice Dirat, Thomas Tognacci, Nathalie Rochet, Xavier Mouska, Stéphanie Bonnafous, Stéphanie Patouraux, Albert Tran, Philippe Gual, Yannick Le Marchand-Brustel, Isabelle Gennero, and Elvire Gouze. Sci Transl Med 18 September 2013 5:203ra124.