Evaluation of individuals with undiagnosed genetic disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to provide answers for individuals suffering from undiagnosed genetic diseases by utilizing a collaborative network of experts. Participants undergo comprehensive evaluations, including genetic testing and phenotyping, to identify potential diagnoses and understand disease mechanisms. The study also seeks to generate new knowledge about rare diseases and assess innovative approaches to diagnosis and treatment. By sharing data and biomaterials among research centers, the initiative aims to enhance the understanding of these complex conditions.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• University of Alabama at Birmingham
  Birmingham, Alabama, United States Recruiting
• University of California, Los Angeles
  Los Angeles, California, United States Recruiting
• University of California, Irvine Medical Center
  Orange, California, United States Recruiting
• Stanford University
  Stanford, California, United States Recruiting
• Leland Stanford Junior University
  Stanford, California, United States Recruiting
• Stanford Hospital and Clinics
  Stanford, California, United States Recruiting

Study contacts

• Principal investigator: William A Gahl, M.D. — National Human Genome Research Institute (NHGRI)
• Study coordinator: Paul Mazur
• Email: udn@hms.harvard.edu
• Phone: (844) 746-4836

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.