Natural History of Wilson Disease
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any |
| Updated: | 1/11/2018 |
| Start Date: | December 18, 2017 |
| End Date: | November 15, 2027 |
| Contact: | Ricarda Tomlin |
| Email: | ricarda.tomlin@yale.edu |
| Phone: | (203) 785-2073 |
Natural History of Wilson Disease: Registry for Patients With Wilson Disease
The purpose of the registry/repository is to provide a mechanism to store data and specimens
to support the conduct of future research about Wilson disease (WD). The overall aim is to
determine the optimal testing for diagnosis and parameters for monitoring treatment of WD
that will aid product utilization and development.
to support the conduct of future research about Wilson disease (WD). The overall aim is to
determine the optimal testing for diagnosis and parameters for monitoring treatment of WD
that will aid product utilization and development.
There are three aims outlined as part of this research study.
Aim 1 is to study the natural history of a carefully characterized cohort of patients with WD
followed longitudinally at Centers of Excellence for WD in the United States and in the
United Kingdom.
Aim 2 seeks to evaluate parameters for diagnosis and treatment monitoring for patients on
chelation therapy and zinc treatment for their WD. Data gathered in Specific aim 1 will be
used for analyzing the components of the diagnostic scores for patients.
Aim 3 is intended to determine whether a composite index or a biomarker can be used as
surrogate marker for treatment monitoring for current patients on therapy that can be used
for future patient treatment trials.
Aim 1 is to study the natural history of a carefully characterized cohort of patients with WD
followed longitudinally at Centers of Excellence for WD in the United States and in the
United Kingdom.
Aim 2 seeks to evaluate parameters for diagnosis and treatment monitoring for patients on
chelation therapy and zinc treatment for their WD. Data gathered in Specific aim 1 will be
used for analyzing the components of the diagnostic scores for patients.
Aim 3 is intended to determine whether a composite index or a biomarker can be used as
surrogate marker for treatment monitoring for current patients on therapy that can be used
for future patient treatment trials.
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
IRB regulation)
Exclusion Criteria:
- Diagnosis of WD has been excluded
- Unwilling to provide informed consent or assent
We found this trial at
1
site
New Haven, Connecticut 6520
(203) 432-4771
Principal Investigator: Michael Schilsky, MD
Phone: 203-737-3422
Yale University Yale's roots can be traced back to the 1640s, when colonial clergymen led...
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