New treatment for ultra-rare ‘second skeleton’ disorder

Getty/Visual Force

By Ella Pickover, PA Media

A new treatment for an ultra-rare disease which causes patients to grow a ‘second skeleton’ has been found to be effective in a clinical trial.

Families affected by fibrodysplasia ossificans progressiva (FOP), also known as 'stone man' syndrome, said they have “desperately waited” for years for a drug which can “stop the disease in its tracks”.

FOP is a genetic condition which leads to the body creating extra bones in locations where they should not form, including inside muscles, tendons, ligaments and other connective tissue.

Abnormal bone development usually follows a so-called flare-up, which can be triggered by minor trauma or illness.

The disorder is life-limiting because it leads to progressive immobility and difficulty with speaking, swallowing and breathing.

But now a new “disease modifying” treatment has been shown to reduce new bone growth by more than 90%, reduce flare-ups and potentially offer hope for new surgical options in the future.