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 may be eligible if you are 1 month of age or older and have a known or suspected inherited metabolic disorder, genetic condition, or hereditary disease risk.
- Children between 1 month and 2 years of age (or under 12 kg in weight) may be considered after a review by the pediatric team.
- Children over 2 years of age may join if they are in stable health and need to be admitted to the Clinical Center for diagnosis.
- Family members of someone already diagnosed with a condition may participate to help with testing or to act as a comparison (control) for their relative's diagnosis.
- Healthy adult volunteers aged 18 or older may join to provide blood and urine samples for comparison purposes.
- Participants may be seen in person as inpatients or outpatients, or via video appointment, depending on the research team's decision.
Who may not be able to join:
- Babies under 1 month of age cannot take part, as the Clinical Center is better set up to care for older individuals.
- Children over 2 years of age who are medically unstable and do not need to be admitted to the Clinical Center for diagnosis cannot join.
- Women who are pregnant are not eligible to participate.
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: (301) 402-2739
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
Clinical phenotyping
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.