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Intrahepatic Cholestasis of Pregnancy (ICP): Research Into Life-saving Diagnostics Receives Funding

April 03, 2024
by Isabella Backman

While he was still in the womb, Judd William Gardner’s life was stolen by intrahepatic cholestasis of pregnancy (ICP), a liver disorder that can occur in the second or third trimester.

ICP can hinder an expectant mother’s liver function, leading to the buildup of bile—the fluid the liver generates to aid digestion. The condition is rare, impacting less than one percent of pregnant women in the United States, but its impact can be tragic. At high levels, the bile can become toxic to the unborn baby and increases the risk of fetal complications including stillbirth. ICP requires careful monitoring of the mother’s bile acid levels. If they rise too high, clinicians may need to induce labor to reduce the risk of complications.

Unfortunately, most hospitals are not equipped to test for ICP. They must send blood samples to outside laboratories, which can delay a diagnosis by precious days—and in some cases, can be too late.

Allison Gardner, Judd’s mother, already had an ICP diagnosis, but had been anxiously waiting for her latest bile acid results when she noticed her baby had stopped moving. She and her husband, Brandon, rushed to the hospital, where their worst fears were confirmed. Their unborn baby had died.

Gardner delivered Judd on October 27, 2018. Instead of celebrating their new role as parents, she and her husband laid him to rest just three days later. “I knew that there was something that needed to change, because there are so many unknowns with (ICP),” she says. “All of those unknowns are why we lost our baby.”

Gardner is now president of Judd’s Legacy, a non-profit with a mission to bring awareness to ICP, promote more rapid testing of the condition in hospitals, and fund research on treatment and diagnosis. In pursuit of this goal, the organization has awarded Yale School of Medicine’s Joe El-Khoury, PhD, associate professor of laboratory medicine, a $60,000 grant to fund research into improving diagnostic techniques for ICP. In 2019, El-Khoury’s lab adopted a test known as the Total Bile Acids, which can produce results in as little as an hour using standard automated chemistry equipment, but it is not widely used by other hospitals.

This grant will allow us to demonstrate the utility of this relatively newly implemented assay so that more clinicians can adopt it and more hospitals can recognize its value. For a small subset of patients, it may be the difference between life and death of their baby.

Joe El-Khoury, PhD

“This grant will allow us to demonstrate the utility of this relatively newly implemented assay so that more clinicians can adopt it and more hospitals can recognize its value,” El-Khoury says. “For a small subset of patients, it may be the difference between life and death of their baby.”

Intrahepatic cholestasis of pregnancy is dangerous but overlooked

The most common symptom women with ICP experience is intense itching. But because other factors can also create itching during pregnancy, including hormonal changes and skin stretching, ICP can be overlooked by medical professionals. When Gardner began complaining of itching 32 weeks into her pregnancy, her Ob/Gyn in South Carolina shrugged it off and suggested she try the over-the-counter antihistamine Benadryl.

When clinicians diagnose ICP, the first-line treatment is ursodeoxycholic acid, or UDCA. The medication can lower concentrations of bile acid to safer levels. If this fails, providers may need to induce delivery of the baby.

Early detection of ICP is essential for protecting the baby. But to test for the condition, most clinicians send blood samples to laboratories outside of the hospital, that use mass spectrometry to measure the levels of specific bile acids. It typically takes three to five days to receive the test results.

In 2019, clinical providers in Yale’s Department of Obstetrics, Gynecology & Reproductive Sciences approached El-Khoury about the need for a faster way of diagnosing ICP in-house. He began exploring options beyond the standard mass spectrometry test when he came across the Total Bile Acids Assay Kit, an enzymatic assay previously approved by the Food and Drug Administration that can produce results in under an hour and with comparable results to mass spectrometry, considered the gold-standard in the field. “It was a newly released assay at the time, and to this day many labs don’t know about it or use it,” he says. “I can tell you that clinicians at Yale have been thrilled with the tests since we started using it.”

Non-profit awards YSM a research grant to study ICP diagnostics

Around the same time, Gardner met with Jenny Chambers, CEO of the United Kingdom-based organization ICP Support, to learn more about her advocacy efforts to encourage hospitals to implement more rapid ICP testing. Through her conversation, Gardner learned that Yale was one of the few hospitals in the United States that had recently adopted the Total Bile Acids.

Gardner decided to reach out to El-Khoury to share her story and learn more about the new test being used at Yale. Then, she began advocating for its implementation in hospitals in South Carolina, where she lived. At first, “this fell on a lot of different deaf ears,” she says. Then, she finally met Berry Allen Campbell, MD, maternal-fetal medicine specialist for Prisma Health and faculty member at the University of South Carolina School of Medicine, who helped advocate for the use of rapid testing within the hospital system.

Her next goal was to raise money to fund research, which could generate data supporting her cause. “Without research, the protocol of ICP treatment and diagnosis isn’t going to change,” she says. Through donations, sponsorships, and an annual 5K run, her organization raised $60,000 for the cause.

Gardner decided to get back in touch with El-Khoury to see what he could accomplish with these funds. “I outlined what we could do with the money to help push the field forward and raise awareness about the assay and how it could be used,” says El-Khoury. In February 2024, Judd’s Legacy officially awarded El-Khoury the funds.

New research to compare utility of new assay to standardized mass spectrometry testing

El-Khoury’s new grant will fund comprehensive studies that compare mass spectrometry testing and Total Bile Acids. He will also publish all of the existing validation data his laboratory produced when it first implemented the test in 2019. This will be important for providing hard evidence that the diagnostic results of the new assay are as reliable as the gold-standard testing.

The researchers are also interested in studying how the new assay impacts the length of hospital stays for patients. Hospitals may be keeping patients who are high-risk in the hospital until they receive back their test results, El-Khoury explains. But with the new test, clinicians can discharge patients immediately if their bile acid levels are not elevated. His team hopes to quantify and measure this impact.

Through this work, El-Khoury also hopes to spread the word about ICP and the importance of rapid testing. “The goal of all of this is to raise awareness about intrahepatic cholestasis of pregnancy and provide recommendations to labs,” he says. “We want them to know there is an alternative test out there that gives results within an hour and is just as useful as mass spectrometry.”

Because ICP is a rare condition, it is not only often overlooked by hospitals, but also by investors, El-Khoury says. Thus, funding is very limited. “Without this grant, research like this would not be possible.”

“I wanted my child to leave a legacy and make a difference here on Earth since he didn’t get the opportunity,” says Gardner. “We hope Judd’s passing brings about some good to save other babies and to prevent other families from going through the same heartache our family has experienced.”

Submitted by Robert Forman on April 03, 2024