Around the populace , there are 800 confirmed slip ( although the estimated total ishigher ) of a rarefied and debilitating disease calledfibrodysplasia ossificans progressiva(FOP ) . Better known as “ stone man syndrome , ” it stimulate muscle to flex into bone , locking limb in piazza , and is often fatal . It is currently untreatable , but scientists opine they may now be a step nigher to a remedy .
The inquiry , which includedRegeneron Pharmaceuticalsin New York , was published in the journalScience Translational Medicineand describes how the lethal upset is make by mutations in a gene called ACVR1 , which produces a cell control surface protein called a transmembrane receptor . The variation move the way the receptor responds to a protein called activin A , make it to go into overdrive when unremarkably it would be repressed . This can ultimately head to the replacing of muscle and soft tissue paper with bone , have – for example – junction in elbows or ankles to freeze .
" conceive of you are driving your gondola down the road and you amount to a ruddy light . You press on the brakes , and the machine kibosh , " Aris Economides , aged author on the study and executive director at Regeneron , toldHealthDay . With the upset , " not only does your elevator car not stop , in reality the brake system are hot - wired to the throttle . "
The researchers study thedisease , though , found that the protein activin A can be keep from activate the cistron using an antibody , developed by scientists at Regeneron . Tests on mice with FOP showed that the treatment successfully stopped the growth of fresh bone .
Speaking to HealthDay , Betsy Bogard from theInternational FOP Associationsaid the finding was “ extraordinary . ”
The tests showed that the antibody was effective in mice for up to six week , with no obvious side effects . Of course , it remain to be ascertain if it is as effectual in humans , but these results are prognosticate .
Existing therapeutic are few and far between for FOP . A steroid hormone drug called prednisone can be used to manage the pain , but nothing so far can cease the bone shaping . Even seek to cut away the ivory in surgery do it worse , as bone ontogenesis subsequently intensifies .
Regeneron is now start function to start clinical tests in humans , although there is no warrant the same antibody will work in people . But at least there is some Leslie Townes Hope for regale the disease .
