Rare Disease Trial, Recruiting

Written by an AI model from ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

• Patients and their blood relatives between the ages of 0 and 99, including women who are pregnant or breastfeeding. (Note: only patients older than 2 years who are in stable health and meet weight requirements will be physically examined at the NIH Clinical Center.)
• People willing to allow their blood, saliva, and other tissue samples to be stored for future medical research.
• People willing to take part in genetic testing and allow their genetic information to be shared in secure databases, which may include whole exome and whole genome sequencing.
• Priority may be given to individuals from families where multiple members appear to have signs of immune system problems across first- or second-degree relatives (such as parents, siblings, or children).
• NIH employees are eligible to participate.
• Women who are pregnant or breastfeeding are eligible to enroll, including pregnant relatives who can provide useful genetic and health reference information. (The trial is not actively recruiting pregnant women.)
• Children and teenagers are eligible to join, with certain restrictions, to help researchers understand how immune disorders develop over time and to support their ongoing medical care. Healthy child relatives are also eligible to provide useful comparison information.
• People who have a known genetic cause for an immune disorder, or who have signs and symptoms suggesting a significant immune system problem — this may include autoimmune conditions, unusual infections, swollen lymph nodes, organ problems, allergies, or abnormal lab results pointing to immune system issues.
• People who have a doctor outside of the NIH and are able to provide a letter or clinical summary from that referring doctor describing their relevant health history.

Who may not be able to join:

• People who have a genetic immune disorder that is already well understood by medical science, such as severe combined immunodeficiency (SCID) or chronic granulomatous disease (CGD), or conditions that are not an active area of research interest for the study team.
• People with an undiagnosed immune disorder who have received chemotherapy in the last 6 months for cancer, or who have infections such as HIV or certain bacterial infections (mycobacterial infections).
• People with a very serious illness that requires highly specialised medical teams or facilities that the NIH may not be able to provide. In some cases, the study doctor may determine that a person can join the study but cannot be admitted to the Clinical Center. People and relatives with certain pregnancy-related concerns may also face travel or assessment risks — eligibility for this group is decided individually by the study doctor.
• People who have a clearly diagnosed autoimmune condition such as lupus (SLE), Hashimoto's thyroiditis, Addison's disease, Graves' disease, sarcoidosis, or rheumatoid arthritis, among others.
• Blood relatives may be excluded if, in the study doctor's opinion, they have any condition that could interfere with the evaluation of an immune system problem being studied in this trial.

Important: Always verify eligibility with the trial site directly before applying.