Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies
| Status: | Recruiting |
|---|---|
| Conditions: | HIV / AIDS |
| Therapuetic Areas: | Immunology / Infectious Diseases |
| Healthy: | No |
| Age Range: | Any - 99 |
| Updated: | 4/6/2019 |
| Start Date: | April 10, 2019 |
| End Date: | August 31, 2038 |
| Contact: | Sandra M Maxwell, R.N. |
| Email: | maxwells@mail.nih.gov |
| Phone: | (240) 627-3078 |
Background:
The immune system helps the body fight infections. Primary immunodeficiency disorders (PIDs)
are diseases that make it easier for people to get sick. Many PIDs are inherited. This means
parents can pass them on to their children. Knowing what causes a person s PID is important
to decide what treatment to give them.
Objective:
To test samples from people with a PID or people related to someone with a PID to find out
what causes PIDs.
Eligibility:
People ages 99 or younger who have a PID or have a relative with a PID
Design:
Participants will be screened with a medical history over the phone. They may need to give
permission for researchers talk to their doctors about their health. Their relatives may be
contacted to see if they want to join the study.
Participants will give samples. These could be:
Blood: Participants blood will be taken from a vein in an arm, or with a prick on the finger
or heel for children.
Saliva, urine, or stool: Participants will provide each sample in a special cup.
Nose or cheek swab: Participants will rub the skin inside their nose or cheek using a cotton
swab.
Cord blood: If participants have a baby during the study, blood will be collected from the
baby s umbilical cord after it is born.
Samples from medical procedures: If, during the study, the participants have a medical
procedure that collects samples, the samples may be used for the study.
The immune system helps the body fight infections. Primary immunodeficiency disorders (PIDs)
are diseases that make it easier for people to get sick. Many PIDs are inherited. This means
parents can pass them on to their children. Knowing what causes a person s PID is important
to decide what treatment to give them.
Objective:
To test samples from people with a PID or people related to someone with a PID to find out
what causes PIDs.
Eligibility:
People ages 99 or younger who have a PID or have a relative with a PID
Design:
Participants will be screened with a medical history over the phone. They may need to give
permission for researchers talk to their doctors about their health. Their relatives may be
contacted to see if they want to join the study.
Participants will give samples. These could be:
Blood: Participants blood will be taken from a vein in an arm, or with a prick on the finger
or heel for children.
Saliva, urine, or stool: Participants will provide each sample in a special cup.
Nose or cheek swab: Participants will rub the skin inside their nose or cheek using a cotton
swab.
Cord blood: If participants have a baby during the study, blood will be collected from the
baby s umbilical cord after it is born.
Samples from medical procedures: If, during the study, the participants have a medical
procedure that collects samples, the samples may be used for the study.
This is a sample collection and repository protocol to receive send-in samples (blood,
tissue, and other bodily fluids) from patients with known or suspected primary
immunodeficiency disorder (PID) and their relatives. Under this protocol, genetic and
molecular tests will be performed on samples to improve understanding of PIDs and immune
system abnormalities. Findings relevant to participants health and medical care will be
returned to them and their referring healthcare providers.
Additionally, this protocol is a repository to store samples and data from otherwise
completed clinical studies of immunodeficiency and dysregulation. After all study-related
interventions, follow-up, and primary specimen and data analyses are complete under their
original protocols, human specimens will remain in storage, and data may continue to be
analyzed under this protocol. This protocol allows additional laboratory and data analyses to
be continued under appropriate human subject protections after the original protocol has been
closed.
tissue, and other bodily fluids) from patients with known or suspected primary
immunodeficiency disorder (PID) and their relatives. Under this protocol, genetic and
molecular tests will be performed on samples to improve understanding of PIDs and immune
system abnormalities. Findings relevant to participants health and medical care will be
returned to them and their referring healthcare providers.
Additionally, this protocol is a repository to store samples and data from otherwise
completed clinical studies of immunodeficiency and dysregulation. After all study-related
interventions, follow-up, and primary specimen and data analyses are complete under their
original protocols, human specimens will remain in storage, and data may continue to be
analyzed under this protocol. This protocol allows additional laboratory and data analyses to
be continued under appropriate human subject protections after the original protocol has been
closed.
- INCLUSION CRITERIA:
New participants enrolled directly onto this protocol must meet all of the following
criteria:
1. Age 0-99 years.
2. Meets 1 of the following criteria:
- Patient with a clinical diagnosis of a form of PID (either known or suspected).
PID may be defined by laboratory and/or clinical findings on 2 or more occasions
that are consistent with a defect in innate or adaptive immunity. Specific PIDs
aredefined by the guidelines of the International Union of Immunological
Societies.
- Biological relative of an individual meeting criterion 2a, with no clinical
evidence of having a PID. Relatives may be mother, father, siblings, children,
grandparents, aunts, uncles, or first cousins to an individual with a known or
suspected PID.
3. Able to provide informed consent.
4. Willing to allow genetic testing and allow biospecimens to be modified into induced
pluripotent stem (iPS) cells.
5. Willing to allow storage of samples and data for future research.
EXCLUSION CRITERIA:
Individuals meeting any of the following criteria will be excluded from study
participation:
1. History of secondary causes of immunodeficiency (eg, HIV infection, immunodeficiency
from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion
of the investigator.
2. Any condition that, in the opinion of the investigator, contraindicates participation
in this study.
We found this trial at
1
site
Bethesda, Maryland 20892
Phone: 240-669-5473
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