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Genetic detective study aims to solve medical mysteries for 1,000 undiagnosed patients

NCT ID NCT04586075

Knowledge-focused Sponsor: University of Wisconsin, Madison Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is for people with rare, undiagnosed genetic conditions that standard tests couldn't identify. Researchers will use whole genome sequencing of the patient and their parents, plus advanced lab work, to find new disease genes and provide a diagnosis. The goal is to give answers and better understand these disorders, not to test a treatment.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
Trio whole genome sequencing and participant-specific research
What this could lead to
If successful, this could help diagnose people with mysterious genetic conditions and uncover new disease genes, potentially guiding future treatments.
What could go wrong
This is an early-stage research study focused on discovery, not a treatment trial. Many participants may remain undiagnosed, and findings may not lead to immediate therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jul 2021

Expected to finish

Oct 2030

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Males and females, ages 0-100 years, of all races and ethnicities, with an undiagnosed disease despite thorough evaluation by healthcare providers and having at least one objective finding. Subjects can come from all states of the US, as well as from other countries.

Ages

Up to 100 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * The applicant has a condition that remains undiagnosed despite thorough evaluation by healthcare providers (including clinical genetic testing). * The applicant has at least one objective finding that is likely to have an identifiable genetic etiology. * The applicant likely has a currently undescribed/new genetic condition or a known genetic condition associated with a novel gene. * The applicant/legal guardian agrees to the collection, storage and recurrent sharing of coded information and biomaterials for research and diagnostic purposes both within and outside of the University of Wisconsin-Undiagnosed Diseases Program (UW-UDP) * The applicant/legal guardian agrees to receive secondary findings from genetic testing. * The applicant/legal guardian has sufficient proficiency in English to understand the consent. Exclusion Criteria: * The applicant already has a diagnosis that explains the objective findings. * A specific diagnosis is suspected and a standard clinical workup performed by the referring/primary care provider would be appropriate. * The UW-UDP is unlikely to improve on the comprehensive workup the applicant has already received. * The applicant's symptoms are likely multifactorial or due to a non-genetic cause.

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Conditions

The condition(s) this trial relates to.

hereditary disease Rare Diseases Undiagnosed Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Genetic disease Rare diseases Undiagnosed disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    1 site. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • University of Wisconsin School of Medicine and Public Health

    RECRUITING

    Madison, Wisconsin, 53705, United States

    Contact Email: •••••@•••••

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