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 have one or more symptoms or physical signs that doctors have been able to measure or observe
- You have not been given a diagnosis, even after being seen by specialists about those symptoms or signs
- You agree to have your personal information and biological samples (such as blood or tissue) shared with other centers involved in this research program, and shared in an anonymous way with other research sites outside the program
- People who are not able to give consent for themselves can still be enrolled (confirm with trial site)
Who may not be able to join:
- You only report symptoms but there are no measurable or observable signs that doctors can detect
- You already have a diagnosis that explains your symptoms or physical findings
- A possible diagnosis was identified just by reviewing your existing medical records
- You are not willing to have your health information shared with other researchers
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: William A Gahl, M.D., National Human Genome Research Institute (NHGRI)
Phone: (844) 746-4836
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
Create an integrated and collaborative research community across multiple clinical sites and between laboratory and clinical investigators prepared to investigate the pathophysiology of these new and rare diseases, the impact of the diagnostic p...; Facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures; Improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common and site-sp...
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.