Major breakthrough in LAM research: the world’s first blood test to confirm LAM

As President of LARA, I am excited to share the news of a major breakthrough in LAM research: the world’s first blood test to confirm LAM.

The research is published today in the international medical journal, PLOS ONE.

One of Australia’s leading LAM specialists, Prof Allan Glanville of St Vincent’s Hospital Sydney applauds the breakthrough as “very, very promising”.

With funding from LAM Australia Research Alliance, scientists at Sydney’s Woolcock Institute of Medical Research first isolated biomarkers in blood serum believed to be unique to LAM.  The logical outcome is the latest discovery: a world’s first blood test capable of identifying LAM by testing for biomarkers specific to LAM.

Women being seen by doctors unfamiliar with LAM may be spared years of anxiety arising from misdiagnosis or delayed diagnosis.  They will also be spared the pain associated with a biopsy.  “Women with LAM often wait four years or more for a correct diagnosis,” reports Dr Brian Oliver, Head of the Molecular Pathogenesis Group, Respiratory Cellular and Molecular Biology at the Woolcock Institute.  Dr Oliver is the leader of LAM research there.  He also works in the School of Medical & Molecular Biosciences at the University of Technology Sydney. he adds. “That is a long time to live with the anxiety of not knowing what is wrong.”

“We have developed a quick test which can be used worldwide to screen women for LAM.  This will mean doctors can start managing the disease earlier, and avoid prescribing inappropriate drugs. Significantly, the results open the way to develop treatments for LAM and new tests to diagnose other rare diseases.”

“Once we have established conclusively that the combination of proteins we have identified in LAM is unique to LAM, the blood test can be conducted worldwide,”

Dr Oliver, along with Dr Nessa Banville, and colleagues from Australia, Italy and the United Kingdom investigated the blood of LAM patients in the hope of finding biomarkers that would allow for a speedy diagnosis.  Taking blood samples from 18 LAM patients in Australia and Modena, Italy, the Australian team used a highly specialised technique to measure and compare the serum content to that of 12 healthy controls.

Tests revealed 14 proteins, some involved in inflammation and the transport of hormones that were significantly changed in the serum of LAM patients.

“That is an exciting result as it means a blood test can now check for altered levels of these proteins.  This will provide a fast and accurate diagnosis.  No tissue samples will be needed to verify LAM,” Dr Oliver says.  “The next step is to validate the results of the small study with a larger sample.  We must ensure the test’s effectiveness before it can be offered publicly.”

The discovery could be used to develop diagnostic tests for other rare diseases. Importantly, the findings could also be used to explore new and much-needed treatments for LAM.

“There is the opportunity now to look more closely at these changed proteins and use them to offer targeted therapies,” Dr Oliver says. “We could also look at what is already on the market to target these proteins and perform some tests in the lab to see if they are effective in LAM.”

Living with LAM
Very rare, LAM affects women worldwide – about five in a million. The research breakthrough comes too late to help the hundred women known to be living LAM in Australia and the thousands already diagnosed worldwide.  However, it will revolutionise the diagnosis of future cases suspected of being LAM.

One variant of LAM is common to women born with tuberous sclerosis.  The other type, sporadic LAM, is caused by a random mutation which usually occurs when women are in their mid 30s.  The primary target is the lungs, where smooth muscle cells proliferate, forming cysts which clog the airways. The disease can also develop in the kidneys, abdomen and pelvis.   There is currently no cure.  Whilst a drug, rapamycin, is proving effective in slowing progression of the disease, tailored treatments will improve the well being and extend the life spans of women living with LAM.

Sydney woman, Melanie Hawyes, 42, suffered a collapsed lung four years ago. It wasn’t until the other lung collapsed during a gym workout two years later that doctors diagnosed LAM. “It was terrifying, totally surreal, as you can imagine, being told you have this horrible disease that doctors know very little about,” she says.

A fit, busy mother of one with a demanding job, Ms Hawyes is able to live a relatively normal life without the need for medication.  But with the threat of disease progression, she is keen to see medical advances that could offer a range of therapy options, or even a cure. “Every new bit of information we get, every breakthrough that is made, brings us closer to understanding this disease and how it works,” she says. “That gives us hope for potential new treatments that are desperately needed.”

To read the PLOS ONE paper, visit http://dx.plos.org/10.1371/journal.pone.0105365

LAM: The Facts
•    Lymphangioleiomyomatosis, or LAM, is a lung disease which usually strikes women during their reproductive years.
•    Abnormal tissue growth in the lungs causes cysts, leading to breathing problems.
•    LAM is extremely rare, affecting about five women in every million worldwide.
•    There is no effective treatment or cure.
•    LAM is degenerative.
•    Diagnosis is difficult. The condition is often mistaken for asthma or COPD and women have to wait up to four years to get a firm diagnosis.
•    Woolcock researchers have developed a blood test that can check levels of certain proteins, providing a quick and clear diagnosis.
•    This opens the way to develop treatments for LAM and new tests to diagnose other rare diseases.

Research gives hope to women living with LAM.

Janet Neustein, President
LAM Australasia Research Alliance (LARA)