Wilson Disease Association

06/11/2026

We are proud to share the first Impact Report from the Wilson Disease Association (WDA), highlighting a year of extraordinary progress for the Wilson disease community. In 2025, WDA expanded its reach through patient support, research, advocacy, education, and global collaboration — all made possible by the generosity and engagement of our donors, volunteers, medical advisors, partners, and community members.

This report reflects the momentum we are building together: advancing the Wilson Disease Registry, strengthening patient and caregiver support, expanding access to resources and medication assistance, elevating patient voices, and investing in a future with better treatments and, ultimately, a cure.

Read the full report: https://wilsondisease.org/about-wda/financials/

06/09/2026

WDA President Rhonda Rowland recently interviewed Dr. Valentina Medici of the UC Davis Wilson Disease Center of Excellence about ALXN1840, an investigational therapy developed by Monopar Therapeutics.

In this interview, Dr. Medici explains the potential benefits of this once-daily therapy, including stabilization of liver disease and meaningful improvements in neurologic symptoms and quality of life.

06/08/2026

The Wilson Disease Association is pleased to share an upcoming free webinar from the National Organization for Rare Disorders (NORD): Participating in Clinical Research: What Patients and Families Need to Know.

Clinical research plays an essential role in advancing care for rare diseases, and patients and families are central to that progress. This webinar will offer an accessible overview of how clinical trials work, why they matter, and what participation may look like for patients and caregivers.

Participants will learn key terms, what to expect, where to find trusted support, and how to ask informed questions when considering research opportunities.

The webinar will feature Julie Raskin of Congenital Hyperinsulinism International, Dr. Paul Moots, rare disease patient advocate Katie Gillick, and NORD’s Tracey Sikora.

📅 Thursday, June 11, 2026
🕑 2 p.m. EDT

Questions may be submitted in advance so the speakers can address them during the session.

Register here: https://rarediseases.zoom.us/webinar/register/WN_FURCgPkPRPCUrYvtGuRZRA?ampDeviceId=644d0052-f6a9-4866-b7f0-ea26df249c47&SessionId=1779213621611&DeviceId=644d0052-f6a9-4866-b7f0-ea26df249c47&SessionId=1779213621611&_gl=1*gt49jk*_gcl_au*NDQ5Mjc2MDYyLjE3NzU1NzYxMDk.*_ga*MTE4NDI2NjYxMC4xNzc1NjYwNDgz*_ga_L8TBF28DDX*czE3Nzk0NjAzMjMkbzI4JGcxJHQxNzc5NDYwNjYwJGo1NiRsMCRoMA #/registration

Curious about rare disease clinical trials? This engaging easy to follow webinar will explain how they work, what participation looks like day to day, and why they matter. You’ll learn key terms, what to expect, and where to find trusted support. Whether you’re just curious or actively exploring...

06/04/2026

Wilson disease was well represented at EASL Congress 2026 in Barcelona — featured in nearly 40 posters and one of only five rare liver disease oral presentation slots.

Highlights included important work on pregnancy and Wilson disease, new tools for copper monitoring, and promising data on an investigational therapy.

Patient advocates collaborated with clinicians from the ERN RARE-LIVER consortium to better understand pregnancy and family planning experiences in Wilson disease. Their work included surveys of both patients and healthcare providers, with each perspective featured in its own poster. The patient survey included 44 women across 13 countries and found that many had uncomplicated pregnancies and healthy babies. However, 44% said family planning was affected, and more than half had concerns about contraception compatibility. Together, the two surveys highlight important gaps in care and the value of collaboration between patients, advocates, clinicians, and researchers.

“Improving the assessment and management of reproductive life in Wilson disease requires bringing together both patient and healthcare provider perspectives,” said ERN RARE-LIVER consortium member Zoe Mariño, MD. “These surveys represent an important first step toward identifying unmet needs and building more patient-centered care.”

Dr. Fred Askari of the University of Michigan Wilson Disease Center of Excellence presented two posters on a new Orphalan-sponsored blood assay designed to directly measure non-ceruloplasmin copper, often referred to as toxic copper. One poster focused on newly diagnosed patients, while the other examined patients who were unstable on maintenance therapy. This type of test could help support diagnosis, monitor treatment response, and identify possible overtreatment.

Dr. Valentina Medici of the UC Davis Wilson Disease Center of Excellence delivered an oral presentation on thiomolybdate choline, also known as TMC or ALXN1840, an investigational therapy developed by Monopar Therapeutics. In a 48-week trial, liver biopsies from 29 patients showed that the once-daily therapy stabilized or improved liver disease, including in heavily pretreated patients, while also improving neurological symptoms and quality of life.

WDA is encouraged by the momentum being built by Wilson disease clinicians and researchers, as well as the growing influence of the patient voice.

06/03/2026

WDA President Rhonda Rowland participated in an Orphalan-sponsored scientific session at last week’s EASL Congress in Barcelona, where she helped elevate the patient voice in conversations about Wilson disease care.

During the session, Rhonda shared insights from the Wilson Disease Association’s Externally-Led Patient-Focused Drug Development meeting, including the real-world experiences, challenges, and unmet needs shared by people living with Wilson disease and by their families.

The congress also featured work by Wilson disease patient advocacy representatives in Germany and Spain, who have collaborated with researchers to better understand pregnancy and family planning needs in the Wilson disease community.

Rhonda is pictured with three Wilson disease patients involved in the pregnancy-related research.

Thank you to everyone working to ensure the patient voice helps shape the future of Wilson disease care, research, and innovation.

06/01/2026

Registration is now open for the 2026 WDA Annual Conference!

Join us September 25–26 in Chicago for the premier educational and networking event in North America for the Wilson disease community. This year’s conference will be co-hosted by the Northwestern University Feinberg School of Medicine’s Wilson Disease Center of Excellence and the Wilson Disease Association.

Patients, caregivers, families, clinicians, researchers, and advocates will come together for two days of education, connection, and support. This year’s program will feature leading Wilson disease experts, dedicated clinicians, and patient advocates, with sessions on genetics, treatment options, neurologic and psychiatric symptoms, treatment side effects and safety, liver health, emerging therapies, nutrition, rehabilitation, insurance and specialty pharmacy issues, caregiver support, community connection, and advocacy.

Attendees can also look forward to exciting community highlights, including the launch of the WDA Ambassador Program, Partners in Progress gatherings, and a special Friday evening Chicago River architecture cruise for conference attendees.

Early-bird registration is available now through August 16.

📍 Northwestern Memorial Hospital — Feinberg Pavilion Conference Center,
Chicago, Illinois

Discounted hotel rooms, patient assistance opportunities, and international travel scholarships are available.

We hope you’ll join us in Chicago for this meaningful opportunity to learn, connect, and strengthen the Wilson disease community.

Register today and plan your conference experience: https://wilsondisease.org/get-involved/events/annual-conference/

Questions? Contact [email protected].

05/26/2026

Encouraging momentum continues for ALXN1840.

Monopar Therapeutics Inc. has announced the publication of Phase 2 study results for ALXN1840, an investigational treatment for Wilson disease, in Hepatology Communications.

The Phase 2 mechanistic study, which examined how ALXN1840 helps the body process and remove copper, showed a rapid, significant, and sustained improvement in daily copper balance. The study also found increased elimination of excess copper after participants started ALXN1840, even though they had already been receiving standard Wilson disease treatments for many years.

This follows encouraging Phase 3 data from a separate study, where ALXN1840 showed greater neurologic benefit compared with standard of care in patients with neurologic symptoms at the start of the trial.

ALXN1840 remains investigational and is not yet FDA-approved. Still, these updates are meaningful because they suggest a potential treatment that may help reduce excess copper and support neurologic function.

We’re encouraged to see continued research and progress toward new options for people living with Wilson disease.

Read the Phase 2 update: https://journals.lww.com/hepcomm/fulltext/2026/06010/effect_of_tiomolibdate_choline_on_copper_balance.7.aspx

was evaluated in an open-label, single-arm phase 2 study in 9 patients with WD. Methods: Enrolled patients with WD were admitted to a clinical research unit (CRU) and initiated on a Cu-controlled diet. Copper intake (food and drink) and output (f***s and urine) were collected during a baseline perio...

05/21/2026

Researchers at the University of Birmingham (UK) are seeking adults living with Wilson disease to participate in a study exploring treatment experiences and preferences. Participation from individuals in the United States is especially encouraged at this time, and international participants are also welcome.

This research will use the Wilson Disease Treatment Experience Questionnaire (WD-TEQ), a tool designed to strengthen clinical trials and support the development of improved treatment options. All participant data will be protected and kept anonymous.

Eligibility:
• Adults 18+ diagnosed with Wilson disease who can read and understand English
• Currently receiving treatment, including chelation therapy or zinc

Compensation:
• Local currency equivalent of $25 for the initial survey
• Local currency equivalent of $6 for the follow-up survey

What to expect:
• Initial online survey, approximately 15 minutes to complete
• Optional follow-up survey 7–10 days later
• Participate from any device: computer, tablet, or smartphone

Your perspective can help advance research and improve care for the global Wilson disease community. U.S. participants, your input is especially needed.

The study is supported by a grant from Orphalan.

For any questions about the study, please email [email protected].

🔗 Learn more and participate: https://redcap.link/wdvalidation

05/21/2026

Last week, WDA Patient Ambassador Coordinator and Colorado resident Kelsey Pusillo — diagnosed with Wilson disease at age 18 — represented the Wilson disease community at two impactful National Organization for Rare Disorders (NORD) events in Denver.

On May 15, Kelsey attended the Living Rare, Living Stronger conference, where she connected with patients, advocates, and rare disease organizations from across the country. The event featured panels on cutting-edge advancements in rare disease diagnosis and care, as well as strategies for navigating insurance barriers and advocating for medically necessary treatments.

On May 16, Kelsey laced up her running shoes and joined NORD's Running for Rare team for the Denver Colfax Marathon 5K — running alongside her husband, two children, and father in honor of her fellow Wilson Warriors. The Running for Rare team raised over $5,000!

We are so proud of Kelsey for representing our community with such passion and dedication. 💙

05/20/2026

The Wilson Disease Association (WDA) was proud to be represented at the 29th American Society of Gene & Cell Therapy (ASGCT) Annual Meeting in Boston, Massachusetts, where researchers, clinicians, advocates, and industry leaders gathered to discuss the future of gene and cell therapy.

WDA’s presence at the ASGCT Annual Meeting helped ensure that the Wilson disease community’s voice was part of these important conversations. President Rhonda Rowland represented WDA in multiple ways, including speaking at the “Shared Decisions, Shared Success” workshop, co-hosted by the ASGCT and the National Organization for Rare Disorders (NORD), on how patient advocacy organizations can engage in research for cell and gene therapy.

During the session, Rhonda shared lessons learned from WDA’s experience engaging with the FDA and preparing for an Externally Led Patient-Focused Drug Development (EL-PFDD) meeting. She also joined a panel discussion on key issues, such as building strong collaboration early between industry and patient advocacy organizations, recognizing red flags before they become dealbreakers, and understanding what types of data matter most to stakeholders and regulators.

Karen Quillen, MD, a dedicated Wilson disease advocate, also attended the meeting and followed sessions relevant to the Wilson disease treatment pipeline, including work presented by Prime Medicine on Prime Editing approaches for Wilson disease.

We are grateful to our industry partners, including Ultragenyx and Prime Medicine, for advancing research and sharing updates relevant to Wilson disease. Ultragenyx highlighted important conversations in a poster presentation around AAV antibody testing and the emotional, educational, and practical support patients and families need during the gene therapy process. Rhonda represented WDA as one of the 10 co-authors. Prime Medicine presented work focused on correcting ATP7B mutations and restoring copper homeostasis in Wilson disease models.

Opportunities like ASGCT help amplify the Wilson disease community’s voice and strengthen collaboration across advocacy, research, and industry. WDA is grateful to our advocates, partners, and scientific collaborators who continue working toward meaningful progress for individuals and families affected by Wilson disease.