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  1. ITV Report

Fight to prevent Black Bone disease

Dr Nick Sireau Photo: ITV Anglia

A father from Cambridge has helped launch a clinical trial into a drug that could prevent both his sons developing a serious genetic illness they are carrying.

Black Bone disease progresses during adulthood, and causes brittle bones and heart disease.

Dr Nick Sireau gave up work four years ago to concentrate on finding a drug to stop its progress and help cure the condition so his boys may never have to suffer the pain of its symptoms.

Shortly after they were born first Julien then Daniel Sireau were diagnosed with Black Bone Disease - a condition every bit as dreadful as its name implies.

Julien and Daniel Sireau Credit: ITV Anglia

Their father Nick wasn't prepared to accept that no treatment was possible.

"I had no idea how difficult it is actually to run clinical trials, just logistically getting all the approvals from ethics committees and regulatory committees and insurance committees then putting together all the science needed and then actually getting the systems in place then recruiting the patients. It's a huge, huge endeavour."

– Dr Nick Sireau

Black Bone Disease or Alkaptonuria to give is its medical name, is a very rare and complex condition affecting around one in every half a million people.

Symptoms include black urine, dark coloured spots in the eyes and discoloured ears.

Sufferers often develop early onset osteoarthritis, which turns the bones black and brittle.

There is also the risk of kidney and bladder stones and even heart disease.

Nick Sireau left his job and set up a charity to help organise a clinical trial.

The AKU Society now employs five people. They believe an existing drug Nitisinone can prevent the build up of a toxic acid caused by a malfunctioning enzyme which attacks bone and cartilage.

Now clinical trials are being launched in Liverpool, Paris and Slovakia.