Observing the natural progression of Wilson Disease

Natural History of Wilson Disease: Registry for Patients With Wilson Disease

Observational Yale University · NCT03334292

This study is tracking patients with Wilson Disease to learn more about how the condition progresses and to help improve diagnosis and treatment in the future.

Quick facts

Study typeObservational
Enrollment300 (estimated)
SexAll
SponsorYale University Academic / other
Locations6 sites (New Haven, Connecticut and 5 other locations)
Trial IDNCT03334292 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals with a confirmed diagnosis of Wilson Disease who can provide informed consent.

Not a fit: Patients who do not have a diagnosis of Wilson Disease or are unwilling to provide consent will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnostic and treatment monitoring strategies for patients with Wilson Disease.

How similar studies have performed: Other studies focusing on the natural history and treatment of Wilson Disease have shown promise, but this specific approach is novel in its comprehensive data collection and longitudinal follow-up.

Eligibility criteria

Show full inclusion / exclusion criteria
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 this trial is running

New Haven, Connecticut and 5 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Wilson Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.