Observing the natural progression of Wilson Disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to create a registry for patients with Wilson Disease (WD) to collect data and specimens that will support future research. It involves a longitudinal follow-up of a carefully characterized cohort at specialized Centers of Excellence in the U.S. and U.K. The study has three main objectives: to understand the natural history of WD, to evaluate diagnostic and treatment monitoring parameters, and to identify potential surrogate markers for treatment efficacy. The data collected will inform better diagnostic scores and treatment strategies for patients with WD.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Known diagnosis of WD
* Able and willing to provide informed consent for adults (Parental/guardian permission (informed consent) and if appropriate, child assent for participants \<18 (or per local Institutional Review Board (IRB) regulation)

Exclusion Criteria:

* Diagnosis of WD has been excluded
* Unwilling to provide informed consent or assent

Where it's running

• Yale University
  New Haven, Connecticut, United States Recruiting
• Advent Health
  Orlando, Florida, United States Recruiting
• Baylor College of Medicine
  Houston, Texas, United States Recruiting
• Universitätsklinikum Heidelberg
  Heidelberg, Germany Recruiting
• Seattle Children's Hospital
  Seattle, Washington, United States Active not recruiting
• Royal Surrey Country Hospital
  Guildford, Surrey, United Kingdom Active not recruiting

Study contacts

• Study coordinator: Ricarda Tomlin
• Email: ricarda.tomlin@yale.edu
• Phone: (203) 785-2073

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• PM577a: a one-time gene-editing therapy for Wilson disease

  This study tests PM577a, a gene-editing treatment, to see if it is safe and may help people with Wilson disease who have a p.H1069Q ATP7B mutation.

  Recruiting at 2 sites Phase 1/2 Prime Medicine, Inc. · New Haven, Connecticut and 3 other locations · NCT07748403

• Best timing for 24-hour urine copper after a brief treatment break

  This will see if a 24-hour urine copper test taken after a short, supervised pause in treatment reflects body copper levels in stable Wilson disease patients.

  Recruiting Yale University · New Haven, Connecticut · NCT07301216

• Renal Involvement in Wilson's Disease

  This study tests how Wilson's disease affects the kidneys and who might be at risk for kidney problems.

  Recruiting Fondation Ophtalmologique Adolphe de Rothschild · Paris · NCT07075393

• Skin effects of D-penicillamine in people with Wilson disease

  This project will use silicone molds and confocal imaging to see if D-penicillamine changes skin elasticity in people with Wilson disease compared with matched healthy volunteers.

  Recruiting Centre Hospitalier Universitaire de Saint Etienne · Bron and 1 other locations · NCT06945081

• Evaluating LY-M003 Injection for Wilson Disease

  This study is testing a new gene therapy called LY-M003 to see if it is safe and effective for people with Wilson Disease.

  Recruiting Early Phase 1 First Affiliated Hospital of Zhejiang University · Hangzhou, Zhejiang · NCT06650319

• Registry for Rare Diseases

  This study is creating a detailed registry to collect information on rare diseases like amyloidosis and sarcoidosis to help improve how they are diagnosed and treated.

  Recruiting Hospital Italiano de Buenos Aires · Buenos Aires, Buenos Aires · NCT06573723

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.