Rare Disease Trial, Recruiting
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:
- You must be willing to follow all study procedures and be available for the full length of the study.
- You must be over 2 years old, either as the main patient being studied or as a close family member (parent, child, or sibling) of that patient.
- There must be a reason to think your illness may have a genetic cause, such as a strong family history of the condition, symptoms starting at an unusually young age, or symptoms that are particularly severe or mild.
- Both people who are affected by the condition and family members who are not affected may be eligible, based on a review of medical records before joining.
- You (or your parent or guardian, if you are a child) must be able to understand and be willing to sign a consent form agreeing to take part.
Who may not be able to join:
- Anyone who is not willing to sign a consent form — whether for themselves, for their child, or on behalf of an adult who cannot consent for themselves.
- People who have already had genetic testing done and received a positive result identifying a genetic condition.
- People whose symptoms appear to be caused by a condition that is unlikely to have a genetic cause.
- People who, in the opinion of the study doctor, have a condition that would make it difficult for them to take part in the required evaluations and tests (confirm with trial site).
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.
Contact this trial
Principal Investigator: Neil A Hanchard, M.D., National Human Genome Research Institute (NHGRI)
Phone: (301) 594-2151
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
Where this trial is recruiting
Primary endpoints
Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.
Can't join this trial?
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.