Endometriosis - research, diagnosis and treatment progress

March is Endometriosis Action Month, and this year’s focus is on raising awareness.

Many sufferers of endometriosis know that it can be hard to be heard by medical professionals. This is a big factor in why it takes on average 9 years for women in the UK to be diagnosed with endometriosis^[1], worsened by a systemic lack of disease understanding in endometriosis and other aspects of women’s health^[2].

This is why raising awareness is so important – to give patients a voice and, most importantly, for that voice to be heard.

This blog explores updates in research, diagnosis and treatments for endometriosis.

Research progress

Recent research has led to a shift to a more holistic approach to endometriosis. This is powered by research such as a genetic study of endometriosis using single-cell sequencing which has greatly advanced understanding, highlighting that endometriosis is not just one disease but is in fact multiple subtypes. One research group has shown that these subtypes respond differently to treatment, with one subtype shown to be a predictor of failure of hormone treatment^[3]. Another study has shown that there is a shared genetic basis between endometriosis and chronic pain^[4],[3], which opens up new non-hormonal treatment avenues.

These findings power a shift from thinking of endometriosis simply as lesions that need to be acutely treated to a whole-body disease.

Other exciting findings point to the role of the microbiome in disease progression^[6], read more in our blog Fertile ground: tapping into the potential of the female microbiome.

Further understanding of disease progression is expected from work using endometrial organoids grown from menstrual fluid, a tool being adopted by many research groups^[3], read more in our blog Yoni Health: the medical secrets of menstrual blood.

Diagnosis breakthroughs

It is estimated that less than 50% of women living with endometriosis in the US have a documented diagnosis^[8],[2]. As well as delaying access to treatment and surgical options for patients, this lack of diagnosis has a knock-on effect in attracting investment into researching new treatment options and assessments of market potential.

Currently, diagnosis is by laparoscopic surgery – an invasive procedure whose accuracy is highly site-specific, as well as expensive. New diagnostic approaches are therefore urgently needed, and several companies are making progress.

Companies such as Endodiag and DotLab are developing blood tests to detect endometriosis-specific biomarkers. Hera Biotech performs micro-fluidic analysis of single cells collected using uterine brush biopsy, for diagnosis and staging of endometriosis.

The Ziwig Endotest® has recently been validated as a non-invasive diagnostic test that can detect an endometriosis-specific miRNA signature of 109 miRNAs in the saliva^[10]. The test can generate results in as little as 7 days, removing the need for invasive procedures and hugely speeding up diagnosis.

Treatment options

There have been no new treatments for endometriosis in 40 years. That is an astounding wait for such a debilitating disease that affects so many women.

Treatment options are currently limited to hormonal or surgical interventions to remove the lesions which are a major burden for patients. Hormonal treatment can lead to side effects such as bone loss, hair loss and breakthrough bleeding, and surgery is an invasive procedure in which half of patients have disease recurrence within 5 years.

But hopes of new treatment options have been raised with several companies now active in this space.

Following promising pre-clinical studies of an anti-IL8 antibody in which the size of lesions, fibrosis and adhesions were reduced, Chugai has taken this antibody into clinical trials in the UK^[11]. If successful, this could be the first non-hormonal treatment option for endometriosis.

Gynica have launched a clinical trial for their non-hormonal intra-vaginal therapeutic solutions that target the endocannabinoid system (ECS), based on links between endometriosis and endocannabinoid deficiency.

Gesynta Pharma is preparing to take vipoglanstat into Phase II clinical trials for endometriosis. Vipoglanstat inhibits mPGES-1, leading to reduced levels of PGE2. This has an anti-inflammatory and pain-relieving effect, and so may address both the disease progression and pain associated with endometriosis.

Future outlook

Endometriosis is an extremely active space right now. Research is gradually sharpening the blunt tools currently available to healthcare providers towards a precision health approach. More work, and funding, is urgently needed but hope is on the horizon that more women will be heard, believed and ultimately treated.

References

1. https://www.endometriosis-uk.org/years-being-dismissed-ignored-and-belittled-endometriosis-uk-urges-improvement-deteriorating#:~:text=The%20new%20report%2C%20which%20is,years%2011%20months%20in%20Wales.
2. Closing the Women’s Health Gap: A $1 Trillion Opportunity to Improve Lives and Economies. McKinsey Health Institute and World Economic Forum Report https://www.mckinsey.com/mhi/our-insights/closing-the-womens-health-gap-a-1-trillion-dollar-opportunity-to-improve-lives-and-economies
3. Watson, C. “Surge in endometriosis research after decades of underfunding could herald new era for women’s health” Nat Med 30, 315–318 (2024). https://doi.org/10.1038/s41591-024-02795-0
4. Rahmioglu, N. et al. Nat. Genet. 55, 423–436 (2023)
5. Muraoka, A. et al. Sci. Transl. Med. 15, eadd1531 (2023)
6. Westwood, S. et al., “Disparities in Women with Endometriosis Regarding Access to Care, Diagnosis, Treatment, and Management in the United States: A Scoping Review”, Cureus, 15(5), May 2023, e38765: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250135/
7. https://evidence.nejm.org/doi/full/10.1056/EVIDoa2200282
8. https://www.nnuh.nhs.uk/news/world-first-for-endometriosis-drug-trial/