The 100th Registry Participant

By Rhonda Rowland

I’m study participant number 30 in the Wilson Disease (WD) Patient Registry.  That’s not exciting.

However, if you’re participant number 100, you represent a milestone.  And, that is exciting. Especially for those who’ve put in countless hours and tremendous effort to recruit patients, test them and analyze the data they’ve gathered, in order to glean new insights into a disease.  The new findings are then published so they can be shared with other medical professionals, making it easier to spot new patients and give them the best possible treatment.

Michael L. Schilsky, MD Chair
Yale Medical Center
New Haven, Connecticut

The Wilson Disease Registry

Established in 2017 by Dr. Michael Schilsky at Yale University, the Wilson Disease Registry (WDR) is a global, long-term observational study sponsored by the Wilson Disease Association. Its mission is to enhance the understanding, diagnosis, treatment, and monitoring of individuals living with Wilson disease (WD).

What Is a Patient Registry?
A patient registry is a tool used to collect information about people who have a specific disease or condition. This information—such as symptoms, treatments, and outcomes—helps researchers and doctors better understand the disease over time.

For rare diseases like Wilson disease, patient registries are especially important. Because so few people are affected, it’s hard to gather enough data in one place. Registries solve this by bringing together information from patients around the world.

This shared data helps scientists ask the right questions, design better studies, and find people who may want to take part in future clinical trials. In short, patient registries are a vital part of improving care, discovering new treatments, and giving patients a stronger voice in research.

Why Is a Registry for Wilson Disease So Important?
Even though treatments for Wilson disease have been available for more than 70 years, many important questions still don’t have clear answers. Doctors still face challenges in diagnosing the condition accurately, choosing the right treatment for each person, and knowing how well those treatments are working. That is why the Wilson Disease Registry) was created. It collects real-world data from patients around the world to help improve how Wilson disease is understood, diagnosed, and treated. Because Wilson disease is rare, gathering information in one place is critical—and can lead to better care for everyone affected.

By looking at the data, researchers and doctors can learn which tests are best for diagnosis, which treatments work well for different types of patients, and how to track whether those treatments are helping. The registry also sheds light on side effects and how the disease progresses, not just in the liver, but also the neurological and psychiatric aspects.

In short, the WDR is helping answer the big questions about Wilson disease—and is working to improve the quality of life for patients today and in the future.

What Is a Biorepository and Why Does It Matter for Wilson Disease?
Alongside the WDR, a biorepository was created to support current and future research. A biorepository is a secure place where biological samples—such as blood and DNA—are collected and stored from people with Wilson disease.

These samples help researchers study how to better diagnose the disease, monitor how it progresses, and discover which treatments work best. By donating samples, patients are directly contributing to studies that may lead to scientific breakthroughs for earlier disease detection, more personalized care, and better outcomes for everyone living with Wilson disease.

Your contribution could help change the future of Wilson disease treatment.

How to Get Involved
Adults and children diagnosed with Wilson disease are encouraged to participate in the WDR, regardless of where they are receiving their treatment. To get more information on the registry, participating sites and to enroll, please feel free to reach out to the team at the Yale Wilson Disease Center of Excellence.

wd.registry@yale.edu

(203) 376 6043

Wilson Disease Registry Update – July 2025

As we enter the seventh year of the Wilson Disease Registry (WDR), we are proud to report that the registry now includes approximately 300 patients, ranging in age from infancy to 74 years. This milestone reflects the dedication of patients, families, and collaborators across our expanding network of eight expert centers worldwide.

We are also pleased to welcome two new team members: Dr. Asim Ulcay, our new study director, who brings expertise in data analysis to strengthen our collaborations and research outputs, and Dr. Sefa Keserci, our new study coordinator, who will support patient visits and help implement new research protocols aligned with registry goals.

End of Year Update – 2021

We would like to again thank you for your support for the Wilson Disease Registry (WDR) Study as we welcome the new year, 2022.
Read more about the status of the Wilson Disease Registry.

November 2019 Update

Paper that was presented at the AASLD conference, November 8-12, 2019.

Major depressive disorder in patients with Wilson Disease.

Paula Zimbrean, Susan Rubman Gold, Keerthana Nalamada, Michelle Camarata, Ricarda Tomlin, Amar Patel, Ana Vives-Rodrigues, Udeme Ekong, Nigel Bamford, Pamela Valentino, Uyen To, Yanhong Deng, Xuemei Song, Aftab Ala, Michael Schilsky. Major depressive disorder in patients with Wilson Disease. Journal of Psychosomatic Research. Volume 121, June 2019, Page 148. (Abstract)

Update on the Wilson Disease Registry Study – June 2019

We would like to take this opportunity introduce Dr. Ayse Coskun, our new study lead coordinator at Yale, to the Wilson Disease Association membership. Ayse joined us in May 2019 and is working with each of our study sites to help initiate their active patient recruitment. We are pleased that recruitment has already started at Baylor College of Medicine in Houston, Texas where Dr. Sanjiv Harpavat has continued the work initiated by Dr. Tamir Miloh. Already three patients were recruited into the study at Baylor, and more will follow. Soon to begin enrollment this Summer are Florida Hospital, led by Dr. Regy Gonzalez, Seattle Childrens under the direction of Dr. Sihoun Hahn, and the Royal Surrey and Kings College Hospitals in the UK where Drs. Aftab Ala and Michelle Camarata are lead investigators.

Overall, 67 patients were enrolled in the registry, thirteen of which are pediatric patients. Recently a summary of the data from the registry was presented at the national meeting of the Wilson Disease Association in May 2019 in New York City and at an international meeting on Wilson Disease held in Aarhus, Denmark later that month. Other research derived from registry data is being presented at a major international psychiatric meeting by Dr. Paula Zimbrean of Yale in July 2019 and new work was submitted for the upcoming national liver meetings in the US in the Fall. Work is continuing towards the development of new methodology for the analysis of copper in the circulation at the Royal Surrey Hospital under the direction of Dr. Chris Harrington, and other exciting work by Dr. Sihoun Hahn on ATP7B protein analysis and molecular sequencing of the Wilson disease gene at Seattle Children’s Hospital is continuing.

We look forward to another productive year of patient enrollment and hope to welcome patients to our newly enrolling registry sites. We thank all our participating patients and families that have so generously donated their time and efforts to make this project a success.

Michael L. Schilsky MD FAASLD, Lead Investigator (Yale)

Ayse Coskun MD, Lead Coordinator (Yale)

Patients are being recruited for a multi-center registry study for patients with Wilson Disease.

This study is being sponsored by the Wilson Disease Association.

Currently, there is no established registry for Wilson disease in the US. Establishing a registry will help us to understand the epidemiology and natural history of Wilson disease. Our hope is that it will enable us to determine best practices for diagnosis and treatment and support new initiatives for research and patient care.

If you choose to participate you will be seen at least every 12 months at the time of your routine visits to the clinic for 5 years. During your visits, you will have some blood work, neurological and psychiatric assessments. These will allow us to assess the whole spectrum of clinical symptoms in Wilson Disease.

The total time commitment for a visit will be about 3 hours.

The Wilson Disease Association has offered an annual $50 stipend to make it easier for you to attend these longer visits. You may be eligible to participate if you meet the following criteria:

  • Male or female, of any age.
  • Have a diagnosis of Wilson Disease.
  • Are undergoing an evaluation for WD, including individuals undergoing family screening.

To discuss possible participation please contact the Yale New-Haven Hospital, Transplant Research Department by calling on (203)376-6043 or emailing ayse.coskun@yale.edu.

Donations

Why Your Donation Matters

Your donation to the Wilson Disease Association does more than keep the lights on—it powers education, awareness and action. With your support, we’re able to maintain vital resources like this website, produce trusted educational materials, fund critical research and host events that bring together patients, caregivers and medical professionals. Most importantly, your generosity helps raise awareness so more people are diagnosed earlier and treated effectively—giving them the best chance at a full, healthy life.

When you give, you’re not just supporting an organization—you’re joining a powerful movement to change the future of Wilson disease. You’ll stay informed about the latest in research and treatment, gain access to exclusive webinars and educational resources, and remain connected to a global community that understands. For more than 40 years, our shared commitment has fueled advances in care, deepened understanding, and amplified the voices of those affected by Wilson disease. Together, we’re building a stronger, more informed future.

WILSON DISEASE ASSOCIATION

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