Identifying factors for diagnosing 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 focuses on understanding the symptoms and features of Wilson disease by analyzing a large cohort of genetically diagnosed patients. The researchers aim to identify key factors that contribute to the variability in clinical manifestations and laboratory results associated with this condition. By doing so, they hope to improve the diagnostic process and provide timely interventions for affected individuals. The study includes long-term follow-up to gather comprehensive data on the patients' health outcomes.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* genetically diagnosed patients with wilson disease

Exclusion Criteria:

* Deny follow-up

Where it's running

• Second Affiliated Hospital, Zhejiang University School of Medicine
  Hangzhou, Zhejiang, China Recruiting

Study contacts

• Principal investigator: Zhi-Ying Wu — Second Affiliated Hospital, Zhejiang University, School of Medicine
• Study coordinator: Yi Dong, Ph.D.
• Email: dongyi720@zju.edu.cn
• Phone: +8618367129345

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.