This study is currently recruiting participants.
Number
17-I-0163
Sponsoring Institute
National Institute of Allergy and Infectious Diseases (NIAID)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 3 Years Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
Neonates;Fetuses;Pregnant Women
Keywords
Inflammatory Bowel Disease; Chronic Granulomatous Disease; Dysbiosis; Microbiome; Immunodeficiency; Natural History
Recruitment Keyword(s)
None
Condition(s)
Chronic Granulomatous Disease; Inflammatory Bowel Disease
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Allergy and Infectious Diseases
PIDD stands for primary immune dysregulation. It is a general term that includes many different inherited immune system disorders. The immune system is the part of the body that helps fight disease and infection. People with PIDDs can develop many kinds of health problems. One of these is inflammatory bowel disease (IBD), which causes diarrhea and cramping. Researchers want to learn more about these disorders to develop possible treatments.
Objective:
To learn more about when and why IBD may develop in some people with PIDDs.
Eligibility:
People ages 3 and older who have PIDD or IBD.
Healthy volunteers in this age group are also needed.
Design:
Visit 1: Participants will be screened with physical exam, medical history, and blood and urine tests.
Visit 2: Participants will:
-Have more physical exams and blood and urine tests.
-Answer questions about quality of life and food history.
-Provide a stool sample.
-Have nasal and rectal skin swabs.
-Have saliva collected.
Participants will have 1 follow-up visit per year. They will repeat visit 2 procedures.
Participants will be contacted by phone or email in between yearly visits. They will be asked about their health. They will complete a quality-of-life questionnaire and send a stool sample that is collected at home.
If participants experience a sudden change in symptoms or undergo a new treatment, they may be asked to complete visit 2 procedures.
If participants are not able to come to NIH, study data and samples can be collected without an in-person visit.
Participants will have a final study visit about 10 years after Visit 1. They will repeat visit 2 procedures.
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INCLUSION CRITERIA: -General Inclusion Criteria - All individuals must meet the following criteria to be eligible for study participation: --Age greater than or equal to 3 years. --Willing to allow storage of samples for future research. --Willing to allow genetic testing of their samples. --Negative urine or serum pregnancy test for women of childbearing potential. -Specific Inclusion Criteria for PIDD of Interest Cohort: Enrollment as a patient with confirmed PIDD or carrier status in a current NIH protocol, regardless of an IBD component. -Specific Inclusion Criteria for IBD Cohort: --Enrollment as a patient with confirmed IBD in a current NIH protocol. --Absence of clinical findings or history suggestive of a primary or acquired immunodeficiency (not including immunodeficiency caused by certain IBD treatments). -Specific Inclusion Criteria for non-PIDD/non-IBD Cohort (Healthy Volunteers): --Absence of clinical findings or history suggestive of a primary or acquired immunodeficiency. --Absence of clinical findings or history suggestive of IBD. EXCLUSION CRITERIA: -General Exclusion Criteria - An individual who meets any of the following criteria will be excluded from study participation: --Active malignancy requiring treatment. --HIV. --Current treatment for hepatitis B. --Current treatment for hepatitis C. --Recreational IV drug use within the past 6 months (based on subject report). --Participation in a research study of an investigational vaccine within the past 6 months. --Any condition that, in the opinion of the investigator, contraindicates participation in this study. -Specific Exclusion Criteria for PIDD of Interest Cohort: None. -Specific Exclusion Criteria for IBD Cohort: None. -Specific Exclusion Criteria for non-PIDD/non-IBD Cohort (Healthy Volunteers): --Treatment with systemic antimicrobials within the past 3 months, unless it is a prophylactic regimen consisting of either an azole , trimethoprim-sulfamethoxazole, a quinolone, or any antimicrobial regimen resembling a typical prophylaxis regimen used to treat a PIDD of interest. --Treatment with immune modulators within the past 6 months.
-General Inclusion Criteria - All individuals must meet the following criteria to be eligible for study participation:
--Age greater than or equal to 3 years.
--Willing to allow storage of samples for future research.
--Willing to allow genetic testing of their samples.
--Negative urine or serum pregnancy test for women of childbearing potential.
-Specific Inclusion Criteria for PIDD of Interest Cohort: Enrollment as a patient with confirmed PIDD or carrier status in a current NIH protocol, regardless of an IBD component.
-Specific Inclusion Criteria for IBD Cohort:
--Enrollment as a patient with confirmed IBD in a current NIH protocol.
--Absence of clinical findings or history suggestive of a primary or acquired immunodeficiency (not including immunodeficiency caused by certain IBD treatments).
-Specific Inclusion Criteria for non-PIDD/non-IBD Cohort (Healthy Volunteers):
--Absence of clinical findings or history suggestive of a primary or acquired immunodeficiency.
--Absence of clinical findings or history suggestive of IBD.
EXCLUSION CRITERIA:
-General Exclusion Criteria - An individual who meets any of the following criteria will be excluded from study participation:
--Active malignancy requiring treatment.
--HIV.
--Current treatment for hepatitis B.
--Current treatment for hepatitis C.
--Recreational IV drug use within the past 6 months (based on subject report).
--Participation in a research study of an investigational vaccine within the past 6 months.
--Any condition that, in the opinion of the investigator, contraindicates participation in this study.
-Specific Exclusion Criteria for PIDD of Interest Cohort: None.
-Specific Exclusion Criteria for IBD Cohort: None.
-Specific Exclusion Criteria for non-PIDD/non-IBD Cohort (Healthy Volunteers):
--Treatment with systemic antimicrobials within the past 3 months, unless it is a prophylactic regimen consisting of either an azole , trimethoprim-sulfamethoxazole, a quinolone, or any antimicrobial regimen resembling a typical prophylaxis regimen used to treat a PIDD of interest.
--Treatment with immune modulators within the past 6 months.
Principal Investigator
Referral Contact
For more information: