Scientists have discovered a new way to diagnose endometriosis which could dramatically shorten the time it takes millions of women to be diagnosed from years to just weeks.
The groundbreaking method involves isolating cells directly from menstrual blood for the first time – a process which gives a clearer view into how endometriosis behaves – paving the way for tailored treatments and a non-surgical diagnostic test. The team behind the breakthrough said they hoped to have the test ready for patients in three years.
In their world-first clinical study, the international group of scientists tested a pioneering diagnostic process which involves directly isolating menstrual blood-derived stem cells (MenSCs) from menstrual blood samples for analysis, rather than analysing cultured cells.
Scientists believe MenSCs are the cells that drive lesion formation in endometriosis, a condition where tissue similar to the uterine lining grows in other parts of the body. It affects approximately 1.5 million women in the UK and causes pain, fatigue and infertility, yet diagnosis takes an average 7 to 10 years.
Culturing the cells – removing them from a patient and growing them in a lab – alters their make-up; whereas freshly isolating the cells without culturing preserves their molecular integrity, enabling a deeper and more direct view into how endometriosis behaves than ever before.
In their landmark study, available as a pre-print and yet to be published, scientists were the first to analyse freshly isolated MenSCs using a process called DNA methylation profiling, which is already widely used to diagnose cancer. They were clearly able to distinguish which of the 42 women participating had endometriosis from those without to an accuracy of 81 per cent.
The approach means scientists can use readily available menstrual blood samples to accurately diagnose and categorise endometriosis: a significantly less invasive process for patients than the current diagnostic gold standard, which involves a surgical procedure called a laparoscopy.
The methylation patterns identified were not only predictive of endometriosis, but also revealed how endometriosis was behaving in different patients. The ability to profile patients individually provides important clues about how the disease develops and why it affects people in different ways, paving the way for more personalised treatments, the team said.
The researchers hope the new technology will enable clinicians to detect endometriosis far earlier and without surgical intervention, reducing endometriosis diagnosis times from up to 10 years to just a few weeks.
One woman who suffered debilitating symptoms for 14 years before she finally received a diagnosis described the news as “bloody brilliant”.
Becca Fowler, 40, told The i Paper: “There’s been so little research done into endometriosis and it affects 10 per cent of people that have periods worldwide.”
The research team also hopes their work will lead to new targeted therapies to treat different types of endometriosis. Their approach could enable clinicians to prioritise patients based on how the disease is behaving, and give patients access to targeted treatments before the condition has advanced.
The study was carried out by researchers at Hospital Universitario Insular de Gran Canaria and Hospital Clínic Barcelona – a leading centre in endometriosis care and research – and led by endogene.bio: a Paris-based precision medicine organisation backed by UK investors.
‘We are redefining how we look at endometriosis’
Dr María Teresa Pérez Zaballos, co-founder and CEO at endogene.bio, told The i Paper: “We believe our work is going to redefine how we work in uterine health because we have seen through this study and our in-house work that menstrual blood contains tissue quality information that in other therapeutic areas is only accessible with a surgical biopsy. The insights we have produced are already redefining how we look at endometriosis.”
Dr Zaballos said her motivation for endometriosis research came following her own diagnosis at the age of 27 “after five years of doctors, surgeries and failed treatments for the wrong conditions”.
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She said the impact of the study lies not just in the diagnosis, but also in understanding how the disease behaves in a bid to find new treatments.
“Understanding disease biology is what has gotten every therapeutic area to have better drugs, and we want to do the same for endometriosis,” Dr Zaballos said.
“Being able to do so non-invasively is key to moving women’s health from a field that relies heavily on symptom-based medicine, to molecular-based medicine in a personalised and accessible way that is difficult to do with biopsies and invasive procedures.”
Dr Zaballos said the team is already working with the pharma industry and “looking at a three year timeline to regulatory approval” for patients to start being offered the new test.
Dr Francisco Carmona, a former President of the International Society of Endometriosis and Uterine Disorders, and co-author of the study, said: “This study marks a significant leap forward in our mission to understand the biology of endometriosis.
“It has far-reaching implications: the methods tested could power the development of non-invasive patient stratification and diagnosis, better treatments and personalised care pathways, transforming the lived experience of patients with endometriosis and how we approach their care.”
The researchers are carrying out two more clinical trials using a larger group of patients they hope will validate their findings with the goal of developing a non-invasive diagnostic test for endometriosis.Douglas Gibson, Principal Investigator in the Centre for Inflammation Research at the University of Edinburgh, who was not involved in the study, said: “There is emerging interest in profiling menstrual blood as it may give insights into reproductive health without the need for invasive diagnostic procedures.
“The approach is relatively novel because rather than focusing on all cells in the menstrual blood they have separated out a specific subset called as menstrual stem cells. Changes in this subset have previously been associated with endometriosis and in this study they found differences in their genetic markers which could be used to identify those with endometriosis.
“This study would be of interest to patients because it gives insights into how menstruation might be different in endometriosis. Although the authors only looked at small number of samples, and is in early stages, it has promise as a future diagnostic approach.”
‘Many women have felt their pain was ignored or minimised for too long”
The researchers are carrying out two more clinical trials using a larger group of patients they hope will validate their findings with the goal of developing a non-invasive diagnostic test for endometriosis.
Dr Carmona, who has been working on improving endometriosis care and treatment for 30 years, said: “Endometriosis is a truly devastating disease that causes deep physical and emotional suffering, and for too long, many women have felt their pain was ignored or minimised.”
He described the team’s breakthrough as “an incredibly moving moment” and said: “When you dedicate so many years to understanding a disease that causes so much suffering, seeing real progress feels both humbling and inspiring. I felt a deep sense of hope – not for myself, but for the thousands of women who might finally receive answers and relief.
“Science can be slow, but when you realise that what you are doing could truly change patients’ lives, it reminds you why you started in the first place.”
Endometriosis sufferer says the breakthrough is ‘about bloody time’
An endometriosis sufferer whose diagnosis took 14 years, and has gone through nine surgeries, said the new test is “about bloody time”.
Becca Fowler, a 40-year-old data analyst from East Sussex, said that if the test had been available when she first got symptoms as a teenager, her life would have been “so different”.
After finally getting diagnosed at age 30, she had nine surgeries to remove the endometrial growths that had spread to her bowels, kidney, liver and bladder. She said this caused “irreversible damage”, which means she still has to self-catheterise while on her period – and is likely to have issues for the rest of her life.
She told The i Paper: “I didn’t get diagnosed until I was 30. I’m 40 now, and I’ve had nine surgeries since then. I have no doubt that if this kind of diagnostic test was available to me when I was a teenager, I wouldn’t now have needed nine surgeries.
“I need to self-catheterise when I’m on my period because I can’t urinate. I have damage to my body that is irreparable. My life could have been so different.”
Fowler said her 30s were “basically non-existent” as she lost the decade either having invasive surgeries or recovering from them.
She said it makes her “really sad” to think of how different her life would have been if the research had been funded and prioritised earlier, but added: “It’s really f*cking brilliant if I think about it for all the people that won’t have to go through what I did.”
Becca Fowler said the fact there are potential markers in menstrual blood that means that women like her can be diagnosed without having the invasive procedures ‘will just be life-changing’.Fowler said the diagnostic test will be “life-changing” to patients in terms of getting a swift diagnosis and better treatment, but also validating to those who have been told the pain is in their head.
“It’s about bloody time,” she said. “There’s been so little research done into endometriosis and it affects 10 per cent of people that have periods worldwide.
“The fact that we’re now getting to the point where there are potential markers in menstrual blood that means that we can be diagnosed without having the invasive procedures, it will just be life-changing. It will be game-changing.”
Connie Dimsdale
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