- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03394053
The Mechanistic Biology of Primary Immunodeficiency Disorders
Investigating the Mechanistic Biology of Primary Immunodeficiency Disorders
Background:
Primary immunodeficiency disorders, or PIDs, are diseases that weaken the immune system. This makes it easier for a person to get sick. Some PIDs are mild and may not be diagnosed until later in life. Other kinds are severe and can be identified shortly after birth. Researchers want to learn more about PIDs by comparing data from relatives and healthy volunteers to people with a PID.
Objective:
To learn more about PIDs, including their genetic causes.
Eligibility:
People ages 0 75 with a PID or their healthy biological relatives the same ages
Healthy volunteers ages 18 75
Design:
Participants will be screened with a medical history, physical exam, and HIV blood test. They may have a pregnancy test.
Participants may repeat the screening tests.
Blood taken at screening will be used for genetic tests and research tests. Participants will be told test results that affect their health. Some blood will be stored for future research.
Adult participants with a PID may have a small piece of skin removed. The area will be numbed. A small tool will take a piece of skin about the size of a pencil eraser.
Researchers may collect fluid or tissue samples from PID participants regular medical care. They will use them for research tests.
Participants with a PID will have 3 follow-up visits over 10 years (for infants, 2 years). Visits will include a physical exam, medical history, and blood draw.
Participants with a PID and their relatives will be called once a year for 10 years. They will talk about how they are feeling and if they have developed any new symptoms or illnesses.
...
Study Overview
Status
Conditions
Detailed Description
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Luigi D Notarangelo, M.D.
- Phone Number: (301) 761-7550
- Email: luigi.notarangelo2@nih.gov
Study Locations
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District of Columbia
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Washington, District of Columbia, United States, 20010
- Recruiting
- Children's National Health System (CNHS)
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Contact:
- Michael Keller, MD
- Phone Number: 240-476-5843
- Email: mkeller@childrensnational.org
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Maryland
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Bethesda, Maryland, United States, 20892
- Recruiting
- National Institutes of Health Clinical Center
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Contact:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Phone Number: TTY8664111010 800-411-1222
- Email: prpl@cc.nih.gov
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
-INCLUSION CRITERIA:
Subjects must meet one of the following 4 criteria:
- Patients (age 0-75 years) with a clinical diagnosis of a form of PID (either known or unknown). PID is defined by laboratory and/or clinical findings on two or more occasions that are consistent with a defect in innate or adaptive immunity. Specific PIDs are defined by the International Union of Immunological Societies guidelines. These subjects must also be willing to undergo genetic testing and to allow their biospecimens to be modified into iPS cells. Women of childbearing potential, or who are pregnant or lactating, may be eligible, however the volume of blood collected for research purposes will be reduced, and no skin biopsies will be performed for research purposes in consideration of their safety.
- Infants identified at birth with positive newborn screening for SCID and confirmed to have T-cell lymphocytopenia. These subjects must be willing to undergo genetic testing.
- Biological relatives (age 0-75 years) of a subject who meets criterion 1a or 1b but who do not have a PID themselves.Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient. There is no limit due to sex, race, or disability. Women of child-bearing potential, or who are pregnant or lactating, may be eligible, however the volume of blood collected for research purposes will be reduced in consideration of their safety. Relatives must also be willing to undergo genetic testing.
Healthy volunteers (age 18-75 years) who are not related to another study subject, who do not have a PID, and meet the folllowing:
- Weight is greater than 110 pounds
- Do not have a history of any heart, lung, or kidney disease, or bleeding disorders,
- Do not have a history of viral hepatitis (B or C), and have a negative
- Not infected with HIV
- Not to be pregnant
- All subjects must be willing to allow their samples to be stored for future research.
EXCLUSION CRITERIA:
- Subjects with secondary causes of immunodeficiency are excluded from this study. Secondary causes of immunodeficiency include HIV infection and immunodeficiency that is deemed to be secondary to chronic use of immunosuppressive medications or chemotherapeutic agents.
- Any condition that, in the opinion of the investigator, contraindicates participation in this study.
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
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Affected Patient
Person with a clinical diagnosis of a PID; either known or unknown as defined by lab and/or clinical findings on 2 or more occasions that are consistent with a defect in innate or adaptive immunity
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Normal Volunteer
Persons (age 18-75 years) who are not related to another study subject, who do not have a PID, weight >110lbs, no history of viral hepatitis B or C, have a negative HIV screening test
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Relative of Patient
Biological relatives (age 0-75 years) of a subject who meets affected patient criteria, but who do not have a PID themselves
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Identification of unique clinical phenotypes associated with known genetic causes of PID.
Time Frame: 10- 15 years
|
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
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10- 15 years
|
Identification of genetic variants that are associated with PID.
Time Frame: 10-15 years
|
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
|
10-15 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Overall survival
Time Frame: 10-15 years
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comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
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10-15 years
|
Incidence of malignancies.
Time Frame: 10-15 years
|
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
|
10-15 years
|
Incidence of infections.
Time Frame: 10-15 years
|
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
|
10-15 years
|
Incidence of autoimmune disease
Time Frame: 10-15 years
|
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
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10-15 years
|
Incidence of allergic disorders
Time Frame: 10-15 years
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comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
|
10-15 years
|
Impact of both preventative and definitive treatments on event-free survival (as defined by survival in absence of invasive or chronic infection, autoimmunity, or malignancies).
Time Frame: 10-15 years
|
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
|
10-15 years
|
Identification of phenotypic, molecular, and functional abnormalities associated with known or novel forms of PID.
Time Frame: 10-15 years
|
comparing these subjects to the large cohort of data in the Exome Aggregation Consortium (ExAC) Browser (Beta), which is available through http://exact.broadinstitute.org.
|
10-15 years
|
Collaborators and Investigators
Investigators
- Principal Investigator: Luigi D Notarangelo, M.D., National Institute of Allergy and Infectious Diseases (NIAID)
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 180041
- 18-I-0041
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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