Research conducted in Nottingham into a rare, multi-system respiratory disease, almost exclusively affecting women, has already translated into treatments that benefit patients in 20 countries.
Professor Simon Johnson, Professor of Respiratory Medicine at the University of Nottingham’s Faculty of Medicine and Health Sciences, has played a pioneering role into research into lymphangioleiomyomatosis (LAM) and is director of the National Centre for LAM.
The LAM centre is based at Nottingham University Hospitals NHS Trust and is now contributing to further research programmes as part of the NIHR Nottingham Biomedical Research Centre Respiratory Theme.
LAM is officially known as an “orphan disease”, because it affects relatively small numbers of people – typically less than 200,000 worldwide. There are around 300 people in the UK. Professor Johnson’s research has contributed to a completely new approach to the management of patients living with LAM.
Professor Johnson first took an interest in LAM, the main symptom of which is breathlessness, when he was a junior doctor 20 years ago.
Back then, the causes of LAM were unknown. The usual course of the disease was a relentless deterioration in the patient’s condition, leading to probable death by respiratory failure within a matter of a few years.
Patients with LAM felt very isolated, with one of them telling researchers: “I had an incurable disease which I couldn’t pronounce. My family, friends and GP had never heard of LAM. I had no one to talk to and was completely alone.”
The causes of LAM have been linked to levels of oestrogen; and in Nottingham, Professor Johnson and his colleagues specifically looked at the decline in patients’ lung function in relation to the onset of the menopause and progesterone-based treatment within their studies.
Studies led researchers to trial the use of the drug, Rapamycin (Sirolimus), in LAM patients. The results improved patient outcomes including preservation of lung function and reduced kidney and lymphatic problems. As a result, the European Respiratory Society and the American Thoracic Society have introduced this treatment into clinical guidelines.
Rapamycin was isolated for the first time in 1972 by scientists, using samples of the Streptomyces hygroscopicus bacteria found on Easter Island in the South Pacific Ocean.
The National Centre for LAM research and patient care was founded in Nottingham in 2011, based at the Queen’s Medical Centre. And LAM Action, a patient group for women with the disease, was also established in the city and now operates as a national independent charity.
Specialist LAM clinics have been established in 20 countries, acting as research and clinical trial centres and hubs for discoveries relating to other rare lung diseases. Around the world, there are now more than 10 different treatment trials for LAM, using seven different drugs.