Ignite Creation Date:
2024-05-06 @ 10:58 AM
Last Modification Date:
2024-10-26 @ 12:38 PM
Study NCT ID:
NCT03394053
Status:
RECRUITING
Last Update Posted:
2024-05-09
First Post:
2018-01-05
Brief Title:
The Mechanistic Biology of Primary Immunodeficiency Disorders
Sponsor:
National Institute of Allergy and Infectious Diseases NIAID
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Investigating the Mechanistic Biology of Primary Immunodeficiency Disorders
Status:
RECRUITING
Status Verified Date:
2024-10-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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
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
Detailed Description:
This is a natural history study designed to investigate forms of primary immunodeficiency disorders PIDs and to better define both new and previously described forms of PID including severe combined immunodeficiency SCID combined immunodeficiency natural killer NK cell deficiency and other disorders Patients with clinical andor laboratory evidence of PID will be recruited at Children s National Health System CNHS and the National Institute of Allergy and Infectious Diseases NIAID Infants identified at birth with a positive newborn screening for SCID and confirmed to have T-cell lymphocytopenia will also be recruited at CNHS Subjects with a known or unknown PID and infants with T-cell lymphocytopenia will provide one or more blood samples during the course of the study to enable immunologic and genetic investigations of immune pathways contributing to PIDs These subjects will also be followed clinically to longitudinally assess the natural history of novel and known PIDs Subjects will be followed over time with regard to their immunologic phenotype clinical disease including incidence of infections autoimmune phenomena allergic disease or malignancies and response to both preventative and definitive therapies Biological relatives who do not have PID and healthy adult volunteers will also be eligible to serve as controls for this study
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 18-I-0041 | None | None | None |