Our Patient Registry project started in September of 2017 and the years expressed in the chart all run from September through August.
Up the left side of the chart are dollars needed or raised and across the bottom of the chart shows which year you are looking at. Each year shows the funds needed and the funds donated so far. There is a third bar in the first year showing that registry startup costs and operations have been paid. You can see that although Year 1 is not quite finished we were able to raise the cost of year 1 and all of the cost for year 2 that begins coming September. We now started raising funds for year 3. As we add more centers and increase patient enrollment the costs increase. Each patient enrolled in the registry will remain enrolled for the duration of the project and continue to be monitored.
The registry is not only important to current patients but is important because it will impact patients for generations. Our researchers and our donors are creating a legacy. We have been very fortunate to meet the needs of our first two years but we cannot become complacent considering the amount need to fund the remainder of the project.
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.
What is a patient registry?
A patient registry collects information about patients who are affected by a particular condition.
Patient registries and databases are key instruments to develop clinical research in the field of rare diseases (RD) and improve patient care as well as healthcare planning and policy. They are the only way to gather data from many sources to achieve a sufficient sample size and quality of information for epidemiological and clinical research. Therefore patient registries are vital to identifying important issues that need to be addressed by clinical trials and to facilitate their planning and recruitment of patients
Why a patient registry for Wilson Disease?
Though treatments have been available for over 60 years for Wilson disease (WD), unmet needs and unanswered questions remain about diagnosis, best therapy, individualization of treatment, and the monitoring of therapy.
There is currently no multicenter registry for WD in the US. In conjunction with leading Wilson Disease clinicians, we are in the process of developing a patient registry for WD at Yale University that will be expanded to multiple sites in the US and in the UK. The registry will collect over a minimum period of 5 years very detailed data on new and treated WD patients. In addition to the data registry, a bio-bank for specimens and DNA from WD patients will also be established.
The information obtained from this project will help physicians and researchers determine the best tests for diagnosing WD, the ideal way to treat patients and how best to monitor therapy. They will also learn more about the frequency of side effects of current treatments. Results will improve the definitions of successful treatment, failure of therapy and the reasons for considering alternative medications. This data will also be useful for the development of new therapies and comparisons between available treatments. This will have a direct impact on improving the future health and quality of life of patients with WD.
The Wilson Disease Association (WDA) is not aware of any other multicenter, multinational Wilson Disease registry with prospective data collection in the world. The results of this research will benefit current and future WD patients globally.