First Ever Rare Liver Disease Patient Cured with Personalized Gene Therapy Treatment
Collaboration and Ideas Driven from Conversations at EASL Congress, Amsterdam
Kristin Hatcher, Director of our Pediatric and Rare Liver Diseases Program, joined global leaders and the GLI team at the EASL Congress this May to elevate the conversation around rare liver diseases. Traditionally centered on NASH/MASH, this year’s congress marked a noticeable shift in focus, bringing diseases like Primary Biliary Cholangitis (PBC) and Alpha-1 Antitrypsin Deficiency to the forefront of the conversation!
Through in-depth discussions and region-specific insights, especially from across Europe, the meeting sparked critical alignment on shared research priorities and care challenges. These collective conversations are driving consensus on the actions needed to strengthen.
First Ever Rare Liver Disease Patient Cured with Personalized Gene Therapy Treatment
At the Children’s Hospital of Philadelphia (CHOP), a personalized gene-editing therapy has successfully treated a young patient with urea cycle disorder, potentially eliminating the need for a future liver transplant. In a space where time is critical and donor organs are in limited supply, this one-time treatment highlights how precision medicine can change the trajectory of care.
Gene-editing technologies like CRISPR hold particular promise for rare liver diseases, many of which are genetic, progressive, and lack long-term treatment options. Continued investment in these approaches, and the partnerships that make them possible, is critical to ensuring more patients have access to lasting, life-changing care.
New Insights into Managing Pruritus in Pregnancy for PBC Patients
A recent case study published in Obstetric Medicine highlights the potential of bezafibrate as a second-line therapy for managing pruritus in pregnant patients with primary biliary cholangitis (PBC) who do not respond adequately to ursodeoxycholic acid (UDCA). This development is particularly important as pregnancy in PBC patients, while once considered rare, is increasingly recognized as possible and successful. It is vital for hepatologists and obstetricians to engage in open conversations to provide coordinated care that prioritizes the safety of both mother and baby.
Help Ensure Our Patient Voices are Heard in the Development of a New Rare Liver Disease Patient Registry in Greece
Building on successes in other disease areas, European health authorities are developing a centralized patient registry for rare liver diseases in Greece. This initiative will complement existing patient- and community-led registries by creating a broader infrastructure to collect and connect data across conditions and countries. Government-led registries have the potential to reach broader and more diverse populations, particularly in underrepresented or stigmatized communities to inform policies.
However, for this effort to succeed, meaningful partnership with patients is essential, ensuring transparency, trust, and a focus on patient priorities throughout its design and implementation. Patient groups from across Greece and beyond should actively engage in this process, to reflect the diverse needs of the rare liver disease community.
The TRACER Initiative is Advancing Hope for Fibrolamellar Carcinoma
Fibrolamellar carcinoma is an ultra-rare cancer affecting just one in five million children worldwide, with no established biomarkers or standard treatment of care. Its unique biology means personalized medical plans are often necessary, making research and new therapies critical. Dr. Taran Gujral, a leading rare cancer researcher, is spearheading groundbreaking work through TRACER, the Transformative Rare Cancer Initiative at Fred Hutch Cancer Center. Uncovering how a malfunctioning kinase-signaling pathway drives this cancer has identified promising drug candidates, including PLK1 inhibitors currently in preclinical testing. Supporting efforts like TRACER is vital to accelerating innovations that can change children’s lives.
Strong Study Results for Norucholic acid for Primary Sclerosing Cholangitis (PSC)
Recent Phase III trial results have provided evidence that norucholic acid may improve liver histology and normalize liver enzyme levels, potentially slowing or reversing the liver damage and scarring caused by PSC. This is especially significant given that PSC can recur in 25-30% of patients even after liver transplantation. The development of treatments like norucholic acid holds promise not only for delaying disease progression and improving quality of life but also for extending transplant-free survival and addressing post-transplant recurrence.
mRNA technology advancements for Wilson Disease
Innorna’s experimental mRNA therapy, IN013, has received special FDA designations to speed up its development for treating Wilson Disease. This treatment aims to reduce harmful copper buildup in the body, which can damage organs. For patients, this means a potential new option that targets the disease at its source, offering hope for better health and quality of life.
Upcoming Events
- June 2 – 3, 2025 – NORD Rare Disease Scientific Symposium, Washington, DC, USA
- June 7, 2025 – Spring 2025 Wilson Disease Conference, Toronto, Canada
- June 12, 2025: Global Fatty Liver Day
- June 12, 2025: Liver Health Foundation’s MASLD-MASH Webinar
- June 15 – 19, 2025 – DIA Global Annual Meeting 2025, Washington, DC, USA
- June 16 – 19, 2025 – BIO International Convention, Boston, MA, USA
- June 26 – 28, 2025 – 2025 Cholestatic Liver Disease Summit, Aurora, Colorado, USA
For more information about the Pediatric and Rare Liver Diseases Council or to learn more about joining, please visit our webpage or email pedsrare@globalliver.org.