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Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

Recruitingn/aAges 1 Month - 100 YearsAllNational Human Genome Research Institute (NHGRI)
NCT02450851 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. Many individuals find themselves being passed from physician to physician, undergoing countless and often repetitive tests in the hopes of finding answers and insight about what the future may hold. This long and arduous journey to find a diagnosis does not end for many patients- the Office of Rare Diseases Research (ORDR) notes that 6% of individuals seeking their assistance have an undiagnosed disorder. In 2008, the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) was established with the goal of providing care and answers for these individuals with mysterious conditions who have long eluded diagnosis. The NIH UDP is a joint venture of the NIH ORDR, the National Human Genome Research Institute Intramural Research Program (NHGRI-IRP

Sign in to get the eligibility rules as simple questions to take to your doctor.

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📋 Eligibility rules (as published)
* 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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What it tests

  • Not listed
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Where

33 sites
University of Alabama at Birmingham
Birmingham, United States
HudsonAlpha Institute for Biotechnology, Inc.
Huntsville, United States
University of California, Los Angeles
Los Angeles, United States
University of California, Irvine Medical Center
Orange, United States
Lucile Salter Packard Children's Hospital at Stanford
Stanford, United States
Stanford University
Stanford, United States
Leland Stanford Junior University
Stanford, United States
Stanford Hospital and Clinics
Stanford, United States

…and 25 more on ClinicalTrials.gov.

🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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