University Hospitals Birmingham (UHB) NHS Foundation Trust has become one of just three centres in the country to offer NHS treatment as well as research into a rare disease which can cause lung, liver and skin problems.

For a number of years UHB has been leading research into the condition of alpha-1 antitrypsin deficiency, or AATD, and has now been given the go-ahead to offer NHS clinics on a wider basis at Queen Elizabeth Hospital Birmingham (QEHB).

“We are widely recognised internationally for our work, and nationally head the AATD research network through funding from the NIHR – the research arm of the NHS,” said consultant respiratory physician Alice Turner.

“There are only a handful of centres recognised to have the expertise to assess and manage AATD in the UK through this network, and very few have been given permission to continue their service on the NHS when the research funding ends.

“It is, therefore, vital for both patients and doctors to know about the available NHS services we can offer in Birmingham for their AATD patients.

“That is particularly important because a new drug to treat AATD has recently been licensed in Europe and is now undergoing NICE approval.

“If we are able to prescribe it for some patients in the near future, to leave those patients without an NHS service would be a travesty.”

AATD is a lack of the protein alpha-1 antitrypsin (AAT) which is produced in the liver. The main job of AAT is to protect the lungs and a deficiency can lead to life-threatening lung and/or liver disease and occasionally painful, inflamed skin.

The condition is inherited and around one in 2,500 people will have the genetic defect. Most, however, will not go on to develop clinically significant disease and across the UK currently only around 1,500 people are known suffer from AATD – although many more may go undiagnosed.

There is currently no cure, with treatment aimed at preventing or slowing the progress of the conditions it causes– such as emphysema, chronic obstructive pulmonary disease (COPD) and cirrhosis of the liver.

Based initially at QEHB, the Birmingham service will shortly relocate to the newly-established Centre for Rare Diseases, part of the new Institute for Translational Medicine (ITM) at the hospital.

“QEHB and the ITM have been critical to our case for being one of the few centres now able to see AATD patients for both NHS and research work,” added Dr Turner.

“We are the only NIHR network specialist centre in the West Midlands to do this, and one of just three nationally that offer both NHS and research services.

“QEHB’s standing as a centre able to offer the multidisciplinary care, and ultimately lung or liver transplantation that our patients may need, alongside the ITM’s support system for rare diseases were the key drivers.

“Currently we are recruiting patients for a phase one study into a new drug for AATD and also have patients involved in a number of ongoing observational studies as part of our research work.

“But being able to provide services on the NHS will enable us to see and help many more sufferers. Since news of the service has been publicised by our patient support group website we have seen referrals double.”

The new service was officially launched at the ITM on Wednesday, November 18 - World COPD Day, with an event that was attended by patients and representatives of support groups, who listened to presentations from clinicians involved in treatment and research.