Breakthrough in Research and Treatment of Rare But Devastating Condition

Researchers at Queen Mary University London and the University of Leicester announced a potential breakthrough in the treatment of a rare but devastating medical condition that can affect children and young people.

In a world first, the clinicians and scientists from the two universities have already treated one patient with promising results. Their preliminary data are published as a letter in the New England Journal of Medicine.This is the first time research into a condition known as “idiopathic pulmonary haemosiderosis” has investigated the role of ‘oxidative stress’ and it is also the first time treatment has been carried out based on the research.Queen Mary University London and the University of Leicester have combined world-class expertise in Child Health, Pulmonary Disease and Oxidative Stress research, plus access to patients with this rare disease. This combination of factors is unique to this collaboration.Jonathan Grigg, Professor of Paediatric Respiratory and Environmental Medicine at Queen Mary University London, said: “Idiopathic pulmonary haemosiderosis is a rare disease, the cause of which is unknown.”Affected patients have episodes of bleeding in the lungs, which often need hospital admissions, and in some cases it can be life threatening. This is normally combated by the use of continuous oral steroids (which can have major side effects).”In a child local to Leicester, we were able to show, for the first time, that there were high levels of oxidative stress in the lungs. In addition, we treated the increased oxidative stress by using of an antioxidant, N-acetyl cysteine – which has no side effects. Since she has been on this treatment she has had no lung bleeds, and the steroid dose has been significantly reduced.”Dr Marcus Cooke, Senior lecturer in the Radiation and Oxidative Stress Section at the University of Leicester, added: “It is a really good feeling to be involved in a project looking at oxidative stress, that can make such an enormous difference to a person’s quality of life.”I think that we will see an increasing use of biomarkers of oxidative stress to support clinical decisions.”Dr Cooke said that idiopathic pulmonary haemosiderosis is a devastating condition. Characteristic of this condition is the accumulation of protein-bound iron in the lungs, a consequence of repeated bleeding in the lungs, coupled with inflammation and fibrosis. Ultimately this condition is usually fatal. Treatment to prevent the lung damage and prevent anaemia is a combination of corticosteroids and iron supplement.Both chronic inflammation, and the presence of iron, released following bleeding into the lungs, can lead to a condition known as oxidative stress. Oxidative stress occurs when the production of free radicals, highly reactive chemicals, outweighs antioxidant defences. This leads to a great deal of damage to cells, and in particular DNA, the cell’s ‘blueprint’, and is likely to be responsible for the fibrosis, as the lungs try to repair the damage done by free radicals.”In order to establish whether oxidative stress was indeed associated with episodes of bleeding into the lungs, we measured a biomarker of oxidative stress, and a marker of damage to DNA specifically, in urine.”We noted that levels of oxidative stress increased significantly following every bleed. With this in mind, and on the basis that antioxidants can potentially boost the body’s natural defences, we began the patient on a course of the antioxidant drug N-acetyl cysteine. Five months into antioxidant therapy, the patient remains clinically well, and on a reduced dose of corticosteroids.”(Source: University of Leicester : July 2007)