It’s Rare Liver Diseases Month!

Here are just some ways you can join us in raising awareness: 

• Be #RareAware on social media and share our toolkit.
• Check out our new Is Your Liver Healthy? podcast! Stay tuned for an episode on February 19 focusing on the rural healthcare challenges and how they impact clinical trials and care for rare disease patients.
• Use your rare voice and share your story today.
• Bring your voice to the hill and join us at in-person events, such as Everylife Foundations Week in Rare and FDA-NIH Rare Disease Day 2025 in Washington, DC.

Wilson Disease Association Expands Its Reach to Canada

We are excited to celebrate the Wilson Disease Association (WDA), a member of the Pediatric and Rare Liver Diseases Council, on their incredible milestone of launching a Canadian chapter earlier this month! This expansion reflects their growing global reach and commitment to raising awareness and providing support for Wilson’s disease communities worldwide.

Save the date, the Canadian chapter’s first event will take place on June 7, 2025, in Toronto, marking the start of an exciting new chapter in their mission to support patients and families. We look forward to seeing their continued success in the years ahead.

A Key Advocate for Rare Disease Drug Approvals Leaves the FDA

Patrizia Cavazzoni, the Director of the FDA’s Center for Drug Evaluation and Research (CDER) has announced her departure from the FDA as of January 18, 2025. CDER is tasked with evaluating and approving drugs to ensure they are safe, effective, and accessible. Under her leadership, CDER’s efforts to expedite the approval process for drugs targeting rare diseases—through programs like the Accelerating Rare Diseases (ARC) Program and the establishment of the Rare Innovation Hub—have significantly benefited patients with rare liver diseases. As we look ahead, we are confident that the strong foundation laid under Cavazzoni’s leadership will continue to support progress in rare disease drug development.

Another Treatment Option for PBC is Now Available in the UK

Following its success in the U.S., Seladelpar (Livdelzi®) has been approved for treating Primary Biliary Cholangitis (PBC) in the UK. For many living with PBC, finding the right treatment can feel like a process of trial and error. This approval expands treatment options for PBC patients, providing hope for those who may not have found success with other medications.

New Breakthrough Treatments on the Horizon for Primary Biliary Cholangitis

A treatment for PBC, CNP-104, from COUR Pharmaceuticals has received Orphan Drug Designation from the FDA. Unlike current therapies, CNP-104 aims to address the root cause of PBC by retraining the immune system to stop attacking bile ducts. Positive results from the Phase 2a clinical trial, which tests the drug’s safety and effectiveness in a larger group of patients, have raised hope that this could become the first treatment to target the underlying disease. This offers new possibilities for patients with limited options and could improve long-term disease management.

Could Erythropoietic Protoporphyria Be Treated with An Allergy Medication?  

Rutgers Health researchers have found that chlorcyclizine, an allergy medication, might help treat erythropoietic protoporphyria(EPP), a rare genetic condition that can cause extreme skin sensitivity to light and liver damage. This drug can help against liver damage according to their recent study, offering EPP patients a non-invasive option to manage their condition. With over  4,000 people affected in the U.S., this research could provide a critical treatment for patients with limited options.

Upcoming Events

• February 5, 2025 – Goodwin’s Annual Rare Disease Symposium 2025, Boston, MA
• February 5, 2025 – Rare Diseases Science Fair, New Bedford, MA 
• February 20, 2025 – Washington University School of Medicine Rare Disease Day, St. Louis, MO
• February 21, 2025: National Caregivers Day
• February 24 – 28, 2025 – Everylife Foundations Week in Rare, Washington, D.C.
• February 27 – 28, 2025 – FDA-NIH Rare Disease Day 2025, Washington, D.C.
• February 27, 2025 – Rare Diseases Science Fair, Tippah County, MS 
• February 26 & February 28, 2025 – CHOC & UCI Rare Disease Symposium & Family Conference 2025, Irvine, CA 

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.