Breaking News - Biomarker found for Endometriosis - Can detect 9/10 Cases

World’s first blood test for endometriosis can detect up to 9 out of 10 cases

Today, MDNA Life Sciences announces the launch of the world’s first blood test for endometriosis, able to detect the disease in up to 9 out of 10 cases. Results will be available in a matter of days after the test is carried out, enabling doctors to make earlier decisions on diagnosis and treatment.

Using its proprietary technology, MDNA has developed techniques to exploit the unique characteristics of mutations in mitochondrial DNA (mtDNA), which can act as biomarkers for the presence of a range of diseases. After successfully identifying biomarkers for different types of cancer, researchers at MDNA’s Newcastle upon Tyne laboratory have now identified biomarkers associated with endometriosis. Results of a clinical studyⁱⁱⁱ recently published in the peer-reviewed journal Biomarkers in Medicine, show that the newly identified biomarkers can accurately detect endometriosis in blood samples in up to 9 out of 10 cases, even in its early stages.

MDNA has now embarked on a program to create a test kit to enable clinical laboratories in the UK and worldwide to carry out the test on a commercial basis. The process will be completed in 9-10 months when the test will be made available through MDNA’s distribution partners.

We would love to put you in touch with the CEO of MDNA, Chris Mitton, or Dr Andrew Harbottle, MDNA Life Sciences’ Chief Science Officer, who has said: “Mutations in mitochondrial DNA act as ideal biomarkers, providing us with a unique and detailed diary of damage to the DNA and accurately detecting many difficult to diagnose diseases and conditions, such as endometriosis.”

MDNA’s Mitomic™ Technology platform identifies and optimizes the best biomarkers to detect a specific disease. The company has already demonstrated the accuracy of its technology in a blood test for prostate cancer, which is the best performing in the market. As well as the new test for endometriosis, MDNA is planning to release tests for ovarian cancer and pancreatic cancer next year. Tests for lung, liver, and stomach cancers will follow in 2021 and more tests are in the pipeline.

For further information about MDNA Life Sciences, its Mitomic™ Technology or the new Mitomic™ Endometriosis Test please visit: www.mdnalifesciences.com. For interviews, please contact me at 917-885-7378, or email at jabraham@jqapartners.com.

Futher data on Endometriosis and mtDNA follows:

Endometriosis facts: the burden & unmet need:

• Endometriosis is a debilitating and painful condition for women, where tissue, similar to the lining of the womb, starts to grow in other parts of the body, such as the ovaries and fallopian tubesⁱ
• It costs the UK economy more than £12.3bn a year in treatment, loss of work and healthcare costsⁱⁱ and can have a significant impact on a woman’s quality of life, both physically and mentally
• It affects 1 in 10 (1.5 million) women in the UK¹ (176 million worldwideⁱⁱⁱ)
• It is the second most common gynaecological condition after fibroids;^iv however the cause of the condition is still unknown
• Due to the broad symptoms associated with endometriosis, such as period pain, heavy periods and lower tummy pain, the road to diagnosis is long and arduous, taking on average 7.5 years²
• The prevalence of endometriosis in women with infertility can be as high as 30–50%^v
• Until now, the only definitive way to diagnose endometriosis has been by laparoscopy, a surgical procedure where a camera is inserted into the pelvis via a small cut near the belly button⁵

About mitochondrial DNA

Many diseases have their own unique biomarkers, like fingerprints, which are ‘red flag’ proteins, substances or pieces of DNA that are only detected when someone has that particular disease.

Inside every cell in our body are lots of tiny structures called mitochondria, which produce the energy needed to power the cell’s various functions. These tiny ‘batteries’ contain their own unique DNA made up of the genes they need to function properly, called mitochondrial DNA.

Mitochondria contain thousands of copies of mitochondrial DNA, and when cells are damaged some of these copies become mutated. These mutations are unique and disease-specific, making them ideal biomarkers.

The presence of these mitochondrial DNA biomarkers can be used to detect diseases, even in the early stages, because if the disease is present there will be multiple copies of the biomarker detectable in cells. This provides an exceptional opportunity to accurately detect diseases, catching them early enough when treatment is most effective, improving and saving millions of lives every year.

ⁱ NHS. Endometriosis. Available at: https://www.nhs.uk/conditions/endometriosis/. [Last accessed March 2019]

ⁱⁱ Simoens S, Dunselman G, Dirksen C, et al. The burden of endometriosis: costs and quality of life of women with endometriosis and treated in referral centres. Hum Reprod 2012;27(5):1292-9. Available at: https://www.ncbi.nlm.nih.gov/pubmed/22422778. [Last accessed March 2019]

ⁱⁱⁱ Rogers PA, D’Hooghe TM, Fazleabas A, et al. Priorities for endometriosis research: recommendations from an international consensus workshop. Reprod Sci 2009;16(4):335-46.

^iv University College London Hospitals. General information about Endometriosis. Available at: https://www.uclh.nhs.uk/OURSERVICES/SERVICEA-Z/WH/GYNAE/ENDOM/Pages/Generalinformationabout.aspx. [Last accessed March 2019]

^v Meuleman C, Vandenabeele B, Fieuws S, Spiessens C, Timmerman D, D’Hooghe T. High prevalence of endometriosis in infertile women with normal ovulation and normospermic partners. Fertil Steril 2009;92(1):68-74

ⁱ Endometriosis UK. Facts and figures. Available at: https://www.endometriosis-uk.org/endometriosis-facts-and-figures. [Last accessed March 2019]

ⁱⁱ Diagnosis Survey. Endometriosis UK. February 2011. A total 2890 women with endometriosis took part in a public awareness survey for Endometriosis UK. The average time given for diagnosis time from symptoms to diagnosis was 7.5 years. A similar finding of 7.4 years was found in: Arruda MS, Petta CA, Abrão MS, Benetti?Pinto CL. Time elapsed from onset of symptoms to diagnosis of endometriosis in a cohort study of Brazilian women. Hum Reprod 2003;18(4):756-759.

ⁱⁱⁱ Creed, J. et al. Mitochondria DNA Deletions Accurately Detect Endometriosis in Symptomatic Females of Child-Bearing Age. Biomarkers in Medicine. January 2019. Available at: https://doi.org/10.2217/bmm-2018-0419. [Last accessed March 2019]

^iv Endometriosis.org. Diagnostic biomarkers in endometriosis. Available at: http://endometriosis.org/news/research/diagnostic-biomarkers-for-endometriosis/ [Last accessed March 2019]