Genetic specialists are spearheading a multi-national study which aims to develop a new treatment for rare bone disease.
Experts at Newcastle University and Newcastle Hospitals NHS Foundation Trust are working together in the hope of demonstrating that an existing drug, called carbamazepine, can be repurposed to treat the rare bone disease metaphyseal chondrodysplasia type Schmid (MCDS).
MCDS is an inherited disorder caused by a change in a gene which leads to short stature with short arms and legs, also known as short-limbed dwarfism.
The disease causes joint problems involving the hips and knees, and curvature and bowing of the leg bones. People with MCDS have life-long pain and difficulty with mobility as they get older.
He said: “We are delighted to be leading a study that is aimed at helping develop a new treatment for patients with rare bone disease.
“Carbamazepine directly helps cartilage cells overcome stress induced by making a mutant form of a protein that is important for bone growth.
“We believe that using drugs, such as carbamazepine, for alleviating cell stress could be a therapy for many different rare diseases.”
The trial, called MCDS-Therapy, involves five European partners in London, Paris, Antwerp, Freiburg and Bologna, and another long-term collaborator in Melbourne, Australia.
Recruitment into the trial has started in the UK at Newcastle’s Great North Children’s Hospital and Guys and St. Thomas Hospital in London, where specialist consultations will be held with patients to determine the best dose of the drug to give. The other trial sites will open in early 2020.
To read the full article please visit the Newcastle University website.