Big Wins for Rare Liver Disease: New Codes, Drug Approvals, and Global Advocacy – Pediatric and Rare Liver Diseases News

New ICD-10 Codes for Fontan-Associated Conditions

The introduction of new, dedicated ICD-10 diagnosis codes for Fontan-associated conditions in the U.S. Centers for Medicare & Medicaid Services (CMS) FY 2026 IPPS Proposed Rule marks a significant step forward for patients who have undergone the Fontan procedure.This surgery is performed on patients with congenital heart defects who have only one working ventricle, rerouting blood directly to the lungs. While it is life-saving, it often causes complications like liver disease and lymphatic dysfunction later in life. These new codes will improve clinical documentation, facilitate insurance reimbursement, and ensure better recognition of these complex, long-term health challenges.

This code will be finalized by August 2025 and implemented by September 2025, enhancing patient care, driving research, and supporting the development of targeted therapies.

Liver Momma’s Annual Biliary Atresia Art Show

Children are more than their diagnosis. Liver Momma’s social media was taken over by pediatric artists between the ages 0 to 18 from April 20 – 26, 2025 during their Annual Pediatric Transplant Week Virtual Art Show. This exciting virtual event hosted on Facebook and Instagram showcased the creativity of children living with biliary atresia. Don’t miss the chance to support these young artists and see how they express themselves beyond their health challenges.

Elafibranor Covered for Eligible Primary Biliary Cholangitis Patients in Scotland 

IQIRVO® (elafibranor) has been accepted by the Scottish Medicines Consortium for use in NHS Scotland. This approval means that patients in Scotland can now access this drug through the publicly funded healthcare system as part of their treatment plan, ensuring they receive the therapy they need without financial or logistical barriers.

Adding to this momentum, Health Canada has issued a Notice of Compliance with Conditions (NOC/c) approving elafibranor for use alongside UDCA in patients with an inadequate response or as monotherapy for those who cannot tolerate UDCA. This means that eligible patients in Canada now have access to this option through their healthcare providers.

Celebrating Maralixibat Approvals Across the Globe 

On April 14, 2025, the U.S. Food and Drug Administration (FDA) approved a tablet formulation of LIVMARLI® (maralixibat) for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) and progressive familial intrahepatic cholestasis (PFIC). The new tablet offers an alternative to the existing oral solution, increasing treatment flexibility and accessibility for patients and caregivers.

In parallel, Japan’s Ministry of Health, Labour and Welfare approved the LIVMARLI oral solution for the same indications. As the first and only approved therapy for cholestatic pruritus in ALGS and PFIC in Japan, this represents a significant advancement in global access to treatment for these rare liver diseases.

Upcoming Events

• May 3 – 6, 2025 – Digestive Disease Week, San Diego, CA, USA  
• May 7- 10, 2025 – EASL Congress, Amsterdam, The Netherlands
• May 22, 2025 – Together for Better Liver Health: Strengthening Public Health Responses to Metabolic Disease; a GLI, EASL, and AASLD policy event on the sidelines of the WHA78, Geneva, Switzerland
• 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 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.

Rare Science, Real Impact: A Student’s Perspective – Pediatric and Rare Liver Diseases News

Student Feature: My Experience Beyond February’s Rare Science Fairs Project

MiKayla Chapman, 18, 12th Grade, Pine Grove High School – Rare Science Fair Participant

Growing up in rural Mississippi, I believed that opportunities in science were reserved for people from well-connected backgrounds. My only exposure to science came from watching ants and squirrels in my backyard and learning about animals from Wild Kratts. In high school, I fell in love with anatomy, physiology, and space, but I always assumed that breaking into the science world would be out of reach for someone like me.

That changed when I had the opportunity to work with Global Liver Institute and the Wilson Disease Association on my research project in February. I never imagined that, as a high school student from Pine Grove, I would have a research project published with support from major organizations. Even more surreal was the chance to speak directly with respected scientists—some of whom have even offered me other opportunities. As a future medical student, those connections are invaluable.

For students like me, growing up in rural communities often means limited access to educational resources and professional networks. But this experience has made me more confident and sharpened my career goals. I’ll be attending Rice University in the fall, aiming for a strong GPA to get into a top medical school like Vanderbilt or Johns Hopkins. I’m considering becoming a neurologist or neurosurgeon—or perhaps focusing on research! The skills I’ve gained from this project, from conducting research to building professional relationships, have given me a head start on that path.

I am so grateful for what I was able to achieve and what has been given to me. I cannot wait for what comes next in my scientific career.

Gene Editing Trial Showing Promising Results in Alpha-1 Antitrypsin Deficiency 

Beam Therapeutics’ early trial results for BEAM-302 could be a major breakthrough for alpha-1 antitrypsin deficiency (AATD). Unlike existing therapies that require lifelong treatment and don’t address liver issues, BEAM-302 corrects the faulty gene itself.

What makes this so significant is the precision of base editing technology. By directly targeting the genetic mutation, BEAM-302 could reduce the need for ongoing treatments and improve overall health outcomes. For patients who have faced limited options and the constant burden of managing symptoms, this marks an exciting step toward a more targeted and durable solution. The potential for a one-time treatment is particularly impactful in rare diseases. However, ongoing research and education remain crucial to ensuring that patients have access to a range of options, recognizing that each patient’s needs are unique.

New Genetic Insights from Norway is Advancing the Understanding of Women’s Health 

A new study in Nature Medicine identified 83 genetic risk factors for female reproductive health conditions, including intrahepatic cholestasis of pregnancy (ICP). Researchers from Estonia and Norway studied the genetic data of nearly 300,000 women and found shared genetic patterns between different reproductive health conditions. One of the biggest breakthroughs was developing a polygenic risk score (PRS) for ICP, which could help doctors predict which women are at higher risk for this condition. The study’s findings highlight how reproductive and liver health are interconnected at a genetic level, and understanding these genetic links could change how doctors approach both diagnosis and treatment.

Givosiran for Acute Hepatic Porphyria Now Accessible in the United Arab Emirates (UAE)

For the first time, patients with acute intermittent hepatic porphyria (AIP) in the UAE have access to this life-changing medication—something that has been available in other parts of the world for years. Muhammad’s story highlights the importance of expanding access to innovative treatments worldwide. The successful administration of Givosiran in the UAE marks an important step forward for rare disease care after its approval in early 2025. It’s encouraging to see this treatment becoming more widely accessible, offering hope to patients who have long faced limited options.

EASL-ERN Released New Clinical Practice Guidelines for Wilson Disease 

The latest EASL-ERN guidelines introduce critical changes that could mean earlier diagnoses, better treatment tracking, and more options for those with Wilson disease. Some of these changes are: 

• A new test, relative exchangeable copper (REC), that will help doctors identify Wilson disease more precisely, reducing the chances of missed or delayed diagnoses.
• Earlier access to liver transplants if a patient is showing severe neurological symptoms.
• Improved treatment tracking guidelines for providers.  
• Guidelines for earlier intervention for acute liver failure treatment, including:  
• Chelation therapy to remove excess copper as soon as possible.
• High-volume plasma exchange to stabilize patients before further treatment decisions.

We encourage both patients and providers to review these changes and understand their impact.

In Case You Missed It: Have You Read These Patient Features from Rare Diseases Week? 

Access to specialized care for rare liver diseases isn’t just a challenge—it’s a global crisis, especially for those in rural areas. As a part of our rare liver diseases month campaign, we partnered with The Educated Patient to highlight different healthcare systems by featuring patient stories, the challenges faced, and long travel times. 

Read them here: 

• Cecilia Dueñas (U.S.) 
• Sindee Winbraun (Israel)
• Gema Isibari (Spain) 
• Kristin Hatcher (U.S.)

Check out our #RareAware At a Glance impact spread to learn about the campaign’s successes:

Upcoming Events

• April 8 – 11, 2025 – International PBC Summit 2025, Edinburgh, Scotland 
• April 19, 2025: World Liver Day
• April 22 – 24, 2025 – World ORPHAN Drug Congress USA 2025, Boston, Massachusetts, USA 
• April 25, 2025: SOLDA Webinar: World Liver Day 
• May 7- 10, 2025: EASL Congress, Amsterdam, The Netherlands
• June 2 – 3, 2025 – NORD Rare Disease Scientific Symposium, Washington, DC, USA
• June 7, 2025 – Spring 2025 Wilson Disease Conference, Toronto, Canada
• 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.