NEW YORK – Diagnostics firm Proteomics International (PIL) plans to launch its proteomic test for endometriosis in Australia in the first half of the year with a US launch to follow shortly thereafter.
The test could be a noninvasive tool used to improve detection of the condition, which currently takes an average of 7.5 years to diagnose, said Richard Lipscombe, managing director of the Nedlands, Australia-based firm.
Endometriosis is a condition in which tissue like the lining of the uterus grows in tissue outside the uterus. The condition, which affects roughly 10 percent of women of reproductive age, can cause pelvic pain, heavy periods, and fertility problems and has been linked to an increased risk of ovarian cancer and autoimmune disease. Diagnosing endometriosis is challenging as its symptoms can overlap with a variety of other conditions. Confirming it often requires laparoscopic surgery and biopsy, which, Lipscombe noted, physicians can be hesitant to perform in uncertain cases.
"There's a reluctance to do surgery … because of the risk of complications that come by doing unnecessary surgery," he said.
Given these challenges, a noninvasive test to assess symptomatic women's risk of having endometriosis could be useful for streamlining diagnoses.
The PIL test, called PromarkerEndo, measures the levels of 10 plasma proteins to identify the likelihood that a woman has endometriosis. This month, researchers from PIL and the University of Melbourne published a study in Human Reproduction, in which they detailed the discovery of the 10 markers as well as the development of three models applying the markers to the diagnosis of the disease.
The researchers performed the biomarker discovery in 56 samples spanning subjects with endometriosis, symptomatic controls, and controls from the general population, using mass spec analysis on a Thermo Fisher Scientific Q-Exactive HF instrument to identify proteins differentially expressed between these groups. From this, they identified 48 candidate proteins, 39 of which were well suited to measurement by targeted mass spec. To this 39, they added 12 proteins identified via literature searches as potentially linked to endometriosis, making for a total of 51 candidate markers.
They then used those proteins to build protein panels for identifying endometriosis patients, developing their models in a cohort consisting of 464 endometriosis cases, 132 symptomatic controls, and 153 controls from the general population. The highest performing model, which consisted of 10 proteins plus age and BMI, distinguished between endometriosis patients and symptomatic controls with an area under the curve ranging from 0.852, for stage I endometriosis, to 0.997, for stage IV endometriosis.
"It's very strong evidence that the panel of markers we have identified can diagnose endometriosis," Lipscombe said. "We would consider it a pivotal study for bringing the test forward and bringing it into the clinic. It's the evidence we required to justify turning it into a clinical-grade diagnostic."
Lipscombe said PIL is now working to ensure the test meets ISO 15189 clinical standards and CLIA standards, a process the company expects to complete in the next three to six months. Following that, it will evaluate the test in additional cohorts to further validate its performance. Last year, PIL signed a deal with the University of Oxford for roughly 600 plasma samples from endometriosis patients. Lipscombe said it plans to use that cohort for its next clinical study. He added that he expects the company will need to validate the test in a US-based cohort before a US launch but said he believes this could be a relatively small study.
Lipscombe said PIL plans to run the test on mass spec, noting that the relatively large size of the panel makes that technology a good fit for the assay.
A number of other companies are also developing tests for endometriosis. Aspira Women's Health, which also inked an agreement with Oxford for endometriosis blood samples, is working on a multi-marker blood test for the condition called Endoinform (formerly EndoMDx). In October, the company received $10 million for development of the test from the Advanced Research Projects Agency for Health (ARPA-H) through its Sprint for Women's Health program. In August, the US National Institutes of Health's Rapid Acceleration of Diagnostics Technology (RADx Tech) program announced it will be awarding $3 million in cash prizes to support the development of noninvasive tests that could improve the diagnosis of the condition.
Other companies including Nura Health, DotLab, Predica Diagnostics, and Hera Biotech are also working on endometriosis tests. French outfit Ziwig currently offers a saliva-based endometriosis test that analyzes microRNAs linked to the condition. The test is available in Europe and the Middle East for use in symptomatic patients, and the company is working to win approval from the US Food and Drug Administration.
In addition to developing the PromarkerEndo test, PIL continues commercialization efforts for its PromarkerD proteomic test for diabetic kidney disease. The company came into 2024 riding momentum from a US licensing deal for the test with Sonic Healthcare USA and the establishment of Medicare reimbursement for the test at a rate of $390.75.
In September, however, PIL and Sonic ended the licensing agreement. According to PIL, the termination was due to a failure to meet certain milestones and performance indicators required under the agreement for commercialization of the test to occur.
Lipscombe said PIL is currently establishing its own CLIA laboratory with the aim of launching US sales of PromarkerD in the first half of this year.
Lipscombe declined to give a specific timeline for when PIL aims to launch PromarkerEndo in the US but said that it anticipates an Australia launch in the second quarter of the year and that a US launch "should be a matter of months rather than years" after that.