Evaluating immune defects in patients with recurrent infections
Detection and Characterization of Host Defense Defects
This study is testing how immune problems in people with frequent infections and their family members can help us understand and improve treatments for inherited immune diseases.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 3600 (estimated) |
| Ages | 1 Month to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Drugs / interventions | chemotherapy |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00001355 on ClinicalTrials.gov |
What this trial studies
This protocol evaluates patients with recurrent or unusual infections and their family members to identify clinical and laboratory correlates of immune abnormalities. It focuses on understanding the biochemical and genetic causes of inherited immune diseases, particularly those affecting phagocytes. The study allows for long-term follow-up and periodic collection of various biological specimens for research aimed at improving diagnosis and treatment of these immune defects. The ultimate goal is to develop therapies for these conditions based on the findings.
Who should consider this trial
Good fit: Ideal candidates include patients with documented recurrent infections and their family members, particularly those suspected of having immune defects involving phagocytes.
Not a fit: Patients without recurrent infections or those not suspected of having immune defects may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with immune deficiencies.
How similar studies have performed: Other studies have shown success in identifying genetic causes of immune deficiencies, suggesting this approach has potential.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: Patients known to have or suspected of having an immune defect significantly or primarily involving the phagocytes will be eligible for enrollment, as well as their blood relatives. Such syndromes include but are not limited to those listed above. Eligibility will not be limited based on sex, race, or disability. Patients or patient relatives must be over 1 month of age. The patient and patient relative cohorts will include the following special populations: * Children: Children are included in this study because immune defects may present in early childhood, and early diagnosis or characterization may benefit subjects. * Decisionally impaired adults: Patients and patient relatives will be able to provide informed consent for themselves or if they lack the capacity to provide informed consent, the study team will obtain consent from the legally authorized representative. Patients with underlying immune disorders, autoimmune phenomena or severe infections may sometimes present with delirium, encephalopathy, or coma and are therefore unable to provide informed consent. Excluding patients who are unable to provide consent could adversely impact patient access to medical therapy at the NIH as well as adversely impact research recruitment. Excluding patients unable to provide consent would also essentially prohibit us from evaluating patients at higher risk for adverse outcomes and therefore skew our understanding of disease. Similarly, enrolled patient subjects who lose the ability to provide ongoing consent during study participation may continue in the study. The risks and benefits of participation for subjects unable to consent should be identical to those described for less vulnerable patients. The process for obtaining consent for these individuals is described below. Healthy volunteers will be healthy adults between the age of 18 and 80 years of either sex, and they must be able to provide informed consents for themselves. EXCLUSION CRITERIA: The presence of an acquired abnormality which leads to immune defects, such as HIV, cytotoxic chemotherapy or malignancy, could be grounds for possible exclusion if, in the opinion of the investigator, the presence of such disease process interfered with evaluation. Individuals with dementia that impairs obtaining informed consent are excluded from enrolling as healthy volunteers, although such subjects may enroll in the patient or relative cohorts if consent can be obtained as described below.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Steven M Holland, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Dawn E Shaw, R.N.
- Email: dawn.shaw2@nih.gov
- Phone: (301) 401-4740
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.