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Cure My Disease

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NIH launches massive hunt to solve medical mysteries for thousands

NCT ID NCT02450851

Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 18, 2026 · Updated 8 times

Summary

This study aims to diagnose people with severe, undiagnosed conditions that have baffled doctors. Up to 20,000 participants will undergo advanced genetic testing and clinical exams at multiple research centers. The goal is to provide answers, discover new diseases, and improve care for those with rare disorders.

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 20,000 people

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

Started

Sep 2015

Expected to finish

Dec 2099

An estimate. End dates often move.

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

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

Who is studied

Individuals with undiagnosed conditions

Ages

1 month to 100 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: Ideal participants for tier 2-4 evaluations include individuals with: * One or more objective findings pertinent to the phenotype for which a case was submitted. * No diagnosis despite evaluation by specialists who assessed the patient for the objective finding(s). * Agreement for the storage and sharing of information and biomaterials, in an identified fashion amongst the UDN centers, and in a de-identified fashion to research sites beyond the network. Participants unable to consent can be enrolled. EXCLUSION CRITERIA: Individuals who are unlikely to be assigned to tier 2-4 evaluations include those with: * Reported symptoms with no relevant objective findings. * A diagnosis explaining objective findings. * A diagnosis suggested on record review. * Unwillingness to share data.

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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

How to take part

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

  1. The places running it

    27 sites. The list below names each one and where it is.

  2. 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 ↗

  3. 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

  • Baylor College of Medicine

    RECRUITING

    Houston, Texas, 77030, United States

  • Boston Children s Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Brigham and Women's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • Childrens National Medical Center

    RECRUITING

    Washington D.C., District of Columbia, 20010, United States

  • Duke University Health System

    RECRUITING

    Durham, North Carolina, 27710, United States

  • Harvard T.H. Chan School of Public Health

    COMPLETED

    Boston, Massachusetts, 02115, United States

  • Harvard U Faculty of Medicine

    NOT_YET_RECRUITING

    Boston, Massachusetts, 02115, United States

  • HudsonAlpha Institute for Biotechnology, Inc.

    COMPLETED

    Huntsville, Alabama, 35806, United States

  • Indiana University

    RECRUITING

    Indianapolis, Indiana, 46202-5262, United States

  • Leland Stanford Junior University

    RECRUITING

    Stanford, California, 94305, United States

  • Lucile Salter Packard Children's Hospital at Stanford

    COMPLETED

    Stanford, California, 94020, United States

  • Lurie Children s Hospital

    NOT_YET_RECRUITING

    Chicago, Illinois, 60611, United States

  • Massachusetts General Hospital

    RECRUITING

    Boston, Massachusetts, 02114, United States

  • Mayo Clinic

    RECRUITING

    Rochester, Minnesota, 55905, United States

  • Medical College of Wisconsin

    RECRUITING

    Milwaukee, Wisconsin, 53226, United States

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

  • New York Genome Center

    ACTIVE_NOT_RECRUITING

    New York, New York, 10013, United States

  • Oregon Health Sciences University

    COMPLETED

    Portland, Oregon, 97201-3098, United States

  • Pacific Northwest National Laboratory

    COMPLETED

    Richland, Washington, 99354, United States

  • Seattle Children's Hospital

    RECRUITING

    Seattle, Washington, 98101, United States

  • Stanford Hospital and Clinics

    RECRUITING

    Stanford, California, 94305, United States

  • Stanford University

    RECRUITING

    Stanford, California, 94305-5584, United States

  • University of Alabama at Birmingham

    RECRUITING

    Birmingham, Alabama, 35233, United States

  • University of California, Irvine Medical Center

    RECRUITING

    Orange, California, 92668, United States

  • University of California, Los Angeles

    RECRUITING

    Los Angeles, California, 90095, United States

  • University of Miami Miller School of Medicine

    RECRUITING

    Miami, Florida, 33136, United States

  • University of Oregon

    NOT_YET_RECRUITING

    Eugene, Oregon, 97403, United States

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104-6056, United States

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84112, United States

  • University of Washington

    RECRUITING

    Seattle, Washington, 98195, United States

  • Vanderbilt University Medical Center

    RECRUITING

    Nashville, Tennessee, 37232, United States

  • Washington University in St. Louis

    RECRUITING

    St Louis, Missouri, 63110, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.