Yorkshire drug trial is saving stricken babies

The drug, for babies with severe hypophosphatasia who normally die after six months, was developed in North America and then tested across the world, with Sheffield as the largest trial site.

Now, nine of the 11 babies who took part in the study are “doing well”, it was announced yesterday. Just 35 babies in the world are currently thought to have the genetic condition at any one time – the equivalent of about one in a million.

Professor Nicholas Bishop, an expert in metabolic bone disease at Sheffield Children’s NHS Foundation Trust and Sheffield University, said: “The trial has been a fantastic success. It’s crucial we now get the drug licensed as soon as possible and begin helping children born with this disease.

“It is an extremely rare condition but, as the European Centre of Excellence for children with bone conditions, we will be able to treat children from across the world, helping them live more normal lives.”

Bone experts at The Children’s Hospital in Sheffield began treating three of the children on the trial, from Germany, Greece and Northern Ireland, three years ago after the drug “asfotase alfa” was developed by bone research scientists in Boston and Montreal.

The children, at sites across the world including Sheffield, were injected with the drug three times a week and “clear results” emerged after around three to six months.

The results of the trial, showing it to be a success, have been officially published in the leading medical journal The New England Journal of Medicine this week.

Of the 11 babies who took part in the trial, one set of parents stopped the medicine after just one dose and one baby with severe underlying lung problems died from pneumonia.

Severe hypophosphatasia means that the body fails to produce a certain enzyme, which means that bone cannot form properly once a child is born.

The children then struggle to walk or use their limbs properly, are very weak and in pain.

Before asfotase alfa was developed other approaches had been trialled, including bone marrow transplantation, but all had failed.

The drug replaces the enzyme and attaches onto the surface of the bone continuing to work after it has been administered.

Prof Bishop said: “We’ve been delighted to be at the centre of this project and have worked closely with colleagues on an international level to get these fantastic results.

“The long-term effects of this drug are not yet known but the results we’ve had so far on this trial are undeniable.

“It’s saved and changed the lives of nine children who would otherwise have died after just a few months.

“In Sheffield we are very focused on developing new treatments and diagnostic methods for children with bone disease.

“We are very proud of the achievements we’ve been able to make, particularly in terms of research and drug development over the last 10 years.”

Sheffield is the lead designated centre for England’’s nationally-funded service for childhood brittle bone disease.