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 are older than 4 weeks and have a rare genetic condition whose cause is not yet known
- You are a family member (such as a parent) of someone with a rare genetic condition, where your genetic information could help researchers understand that condition
- You are a minor (child) or an adult who has difficulty making decisions, as long as a parent or legal guardian is able to sign the consent forms on your behalf
- In rare cases, DNA or biological samples from a deceased person, including from a fetus or newborn who did not survive, may be included if specific ethical and legal conditions are met
- In rare cases, a pregnant woman may be enrolled if she is voluntarily donating fetal tissue from an invasive prenatal test and analysis of both parents and the fetus is necessary to understand the genetic condition
Who may not be able to join:
- Adults who have difficulty making decisions and do not have a legally appointed guardian who can sign consent forms on their behalf
- Adults with significant mental health or psychiatric conditions that, in the research team's judgment, affect their ability to understand and use complex genetic information — unless they have a proper legal guardian or surrogate decision-maker
- Adults with cognitive impairment whose legal guardianship has not been officially established and proven before enrollment
- Pregnant women, except in the specific rare circumstances described above
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: Leslie G Biesecker, M.D., National Human Genome Research Institute (NHGRI)
Phone: (301) 435-2832
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
Analyze GSMS results for rare disorders for which genetic causes are known but not fully described; Molecular etiology of rare diseases
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.