Rare Disease Trial, Recruiting NCT04586075 Sponsor: University of Wisconsin, Madison Condition: Rare Disease
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Rare Disease Trial, Recruiting

NCT04586075
Recruiting Not Applicable

Who may be able to join

AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI

Who might be able to join this trial:

  • Your condition has not been diagnosed, even after thorough testing by doctors, including genetic testing.
  • You have at least one clear, measurable health problem that is likely caused by a genetic (inherited) issue.
  • Doctors believe you may have a newly discovered genetic condition, or a known genetic condition linked to a gene that hasn't been connected to it before.
  • You (or your legal guardian) agree to have your coded health information and biological samples collected, stored, and shared for research and diagnostic purposes, including with partners outside the University of Wisconsin Undiagnosed Diseases Program.
  • You (or your legal guardian) agree to be told about any additional genetic findings discovered during testing, even if they were not the main focus of the study.
  • You (or your legal guardian) can understand and communicate in English well enough to give informed consent.

Who may not be able to join:

  • You already have a confirmed diagnosis that explains your health problems.
  • Doctors suspect a specific diagnosis and believe standard testing through your regular doctor would be the right next step.
  • The program is unlikely to offer more than what you have already received through previous thorough medical evaluations.
  • Your symptoms are likely caused by multiple non-genetic factors or a condition that is not genetic in nature.

Important: Always verify eligibility with the trial site directly before applying.

Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.

This is a simplified plain English summary of the eligibility criteria. Full criteria are set by the trial investigators and may include additional requirements not shown here. Never self-exclude from a trial based on this summary. Contact the trial site directly to confirm your eligibility.
Last synced 27 July 2026
This study is not part of the standard drug-approval phase pathway (for example an observational, device, behavioural, or registry study), so a phase success rate does not apply.

Contact this trial

Principal Investigator: Bryn Webb, MD, University of Wisconsin, Madison

Phone: (608) 263-5877

Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.

GP referral letter

Print a one-page summary to share with your doctor.

Trial details

Status
Recruiting
Phase
Not Applicable
Registry
ClinicalTrials.gov
Start date
16 July 2021
Est. completion
1 October 2030

Where this trial is recruiting

🇺🇸 United States

Primary endpoints

Number of New Disease Genes Discovered; Number of Expanded Disease Gene Phenotypes

Can't join this trial?

Expanded access pathways

If this trial is not available to you, other access pathways may exist. In Australia, the TGA Special Access Scheme allows access to unapproved therapeutic goods for individual patients.

TGA Special Access Scheme information

Find other recruiting trials on ClinicalTrials.gov

Data last synced from ClinicalTrials.gov: 27 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.

Trial recruitment status can change without notice between our nightly data updates. Always contact the trial site directly to confirm current recruitment status before making any decisions or travel arrangements.

View original record on ClinicalTrials.gov