Primary ImmunodeficiencyNCT03610802
Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies
An observational study of Primary Immunodeficiency, run by National Institute of Allergy and Infectious Diseases (NIAID) at 3 sites in 3 countries.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 1 day to 99 years
- Conditions the study is for
- Primary Immunodeficiency
- How many people
- 3,000 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 22 Jul 2019to 31 Mar 2038
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Primary Immune Deficiency or Dysregulatory Disorder and their biological relatives will be referred by healthcare providers worldwide.@@@@@@
Who may be able to join
- Participants enrolled onto this protocol must meet all of the following criteria:
- Age 0-99 years.
- 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 are defined 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.
- Able to provide informed consent.
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- Willing to allow genetic testing and allow biospecimens to be modified into induced pluripotent stem (iPS) cells.
- Willing to allow storage of samples and data for future research.
- Children: Children are eligible to participate in this study because PIDs may present in early childhood and results of some research tests may inform participants future medical care. Additionally, the study poses no more than minimal risk.
- Pregnant women and neonates: Pregnant women can participate in this study. Research testing on samples from pregnant women may help us learn about changes in the immune systems of immunodeficient patients during pregnancy, which is important knowledge that could not be obtained from nonpregnant individuals. Research testing of pregnant women with known or suspected PIDs could provide insight into the fetus s health risks, which may help guide clinical management during and after pregnancy. We may request cord blood samples at delivery to process right away or freeze. Cord blood is a unique source of stromal cells that may be characterized or modified for research purposes. Additionally, this study poses no more than minimal risk, including to participants who are pregnant and their fetuses. Similarly, neonates (including nonviable neonates or those of uncertain viability) may be enrolled in this study as it does not involve more than minimal risk and blood volumes will be limited based on the clinical status of each participant. Each individual providing consent will be fully informed regarding the reasonably foreseeable impact of the research on the neonate, and individuals engaged in the research will have no part in determining the viability of a neonate. Further, neonates of uncertain viability are eligible because all the following criteria are met:
- Many PIDs are rare and present early in life, and it is possible that the manifestations of a known or suspected PID may impact the viability of the neonate. Research testing of neonates with known or suspected PIDs could provide insight into current and future health risks, which may provide guidance for medical management and thus benefit the neonate and possibly enhance the probability of survival.
- The only risks of study participation are the risks of blood draw. When possible, blood for this study will be collected at the time of clinically indicated blood draws so that there is no additional needlestick, and blood volumes will be limited based on the clinical status of each participant. Collection of blood is the only possible method to conduct the research testing under this protocol that may directly benefit the neonate by revealing insights about health risks and medical management. Thus, the risk is the least possible for achieving that objective.
- The legally effective informed consent of either parent of the neonate or, if neither parent is able to consent because of unavailability, incompetence, or temporary incapacity, the legally effective informed consent of either parent's legally authorized representative is obtained, except that the consent of the father or his legally authorized representative need not be obtained if the pregnancy resulted from rape or incest.
- Nonviable neonates are also eligible because all the following criteria are met:
- Vital functions of the neonate will not be artificially maintained.
- The research will not terminate the heartbeat or respiration of the neonate.
- Blood will only be collected from nonviable neonates at the time of clinically indicated blood draws so that there is no additional needlestick, and blood volumes will be limited based on the clinical status of each participant. Therefore, there will be no added risk to the neonate resulting from the research.
- As described above, many known or suspected PIDs are rare and can present early during life, and it is possible that their manifestations may impact the viability of the neonate. This protocol aims to achieve characterization of such disorders, and this aim could not be achieved for certain disorders if nonviable neonates are excluded. Thus, the purpose of the research is the development of important biomedical knowledge that cannot be obtained by other means.
- The legally effective informed consent of both parents of the neonate will be obtained.
- Decisionally impaired adults: Adults who are unable to consent are excluded from study participation. Enrolled participants who temporarily lose the ability to consent during study participation may continue in the study in accordance with NIH Human Research Protections Program (HRPP) Policy 403 Research with Subjects Lacking Capacity to Consent; the study poses no more than minimal risk and may hold a prospect of direct benefit as results of some research tests may inform participants future medical care. However, enrolled participants who permanently lose the ability to consent during study participation will be withdrawn.
Who cannot join
- Individuals meeting any of the following criteria will be excluded from study participation:
- History of secondary causes of immunodeficiency (eg, HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.
- Any condition that, in the opinion of the investigator, contraindicates participation in this study.
Trial locations and contacts
3 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
3 sites in 3 countries
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
Italy1 site, 1 recruiting
- Recruiting
Pavia Hospital (PH)
Pavia, 27100
Riccardo Castagnoli, 00393336151745, r.castagnoli@smatteo.pv.it
Turkey (Türkiye)1 site, 1 recruiting
- Recruiting
Marmara University Hospital, Istanbul Jeffrey Modell Diagnostic and Research Cen
Istanbul
Safa Baris, M.D., +90 505 261 49 86, safabaris@hotmail.com
About this study
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.
Read more
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.
Read the detailed description
Study Design:
This is a prospective sample collection protocol to receive send-in biological samples. Participants will not be seen at the NIH for study visits. Under this protocol, genetic and molecular tests will be performed on samples to improve understanding of PIDs. Findings relevant to participants health and medical care will be returned to them and their referring healthcare providers.
Primary Objective:
To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.
Primary Endpoints:
- Identification of genetic variants that are associated with PID.
- Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols.
This is a sample collection 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.
- Conditions
- Primary Immunodeficiency
- Keywords
- Immunophenotyping, Functional Assays, Repository, HLA-Typing, Next Generation Sequencing, Natural History
- Medical subject headings
- Primary Immunodeficiency Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Biological relatives | Biological relative (mother, father, siblings, children, grandparents, aunts, uncles, or first cousins) of patient, with no clinical evidence of having a PID. | |
| Patients | Patients with PID, which 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols
Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols. To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.
Measured: Duration of participant enrollment
Identification of genetic variants that are associated with PID.
To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.
Measured: Duration of participant enrollment
Secondary outcomes (1)
Identification of molecular and functional abnormalities associated with known or novel forms of PID (repository study).
Identification of molecular and functional abnormalities associated with known or novel forms of PID (repository study).
Measured: Duration of participant enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Aug 2018
- Study start22 Jul 2019
- Primary completion31 Mar 2038 (estimated)
- Study completion31 Mar 2038 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Primary ImmunodeficiencyStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 3,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Ottavia M Delmonte, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03610802
- Sponsor's protocol ID
- 180128
- Other IDs
- 18-I-0128
- Status last verified
- 8 Sep 2026
- First submitted
- 31 Jul 2018
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The primary focus of this study is to identify genetic variants associated with PID to achieve genetic and immunologic characterization of known or suspected disorders of the immune system
Publications
Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol. 2013 Aug;33(6):1078-87. doi: 10.1007/s10875-013-9901-6. Epub 2013 May 9.
PubMed 23657403Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.
PubMed 29226302Milner JD, Holland SM. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Nat Rev Immunol. 2013 Sep;13(9):635-48. doi: 10.1038/nri3493. Epub 2013 Jul 26.
PubMed 23887241
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies
- ClinicalTrials.gov ID
- NCT03610802
- Acronym / sponsor ID
- 180128
- Conditions
- Primary Immunodeficiency
- Keywords
- Immunophenotyping, Functional Assays, Repository, HLA-Typing, Next Generation Sequencing, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,000 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 22 Jul 2019 (actual)
- Primary completion
- 31 Mar 2038 (estimated)
- Study completion
- 31 Mar 2038 (estimated)
- First posted
- 1 Aug 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Design:
This is a prospective sample collection protocol to receive send-in biological samples. Participants will not be seen at the NIH for study visits. Under this protocol, genetic and molecular tests will be performed on samples to improve understanding of PIDs. Findings relevant to participants health and medical care will be returned to them and their referring healthcare providers.
Primary Objective:
To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.
Primary Endpoints:
- Identification of genetic variants that are associated with PID.
- Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols.
This is a sample collection 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Biological relatives | – | –Biological relative (mother, father, siblings, children, grandparents, aunts, uncles, or first cousins) of patient, with no clinical evidence of having a PID. |
| Patients | – | –Patients with PID, which 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. |
Who may qualify
- Ages
- 1 day to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Primary Immune Deficiency or Dysregulatory Disorder and their biological relatives will be referred by healthcare providers worldwide.@@@@@@
Key inclusion criteria (20 listed)
- Age 0-99 years.
- Meets 1 of the following criteria:
- Able to provide informed consent.
- Willing to allow genetic testing and allow biospecimens to be modified into induced pluripotent stem (iPS) cells.
- Willing to allow storage of samples and data for future research.
Key exclusion criteria (3 listed)
- Individuals meeting any of the following criteria will be excluded from study participation:
- History of secondary causes of immunodeficiency (eg, HIV infection, immunodeficiency from chronic use of immunosuppressive or chemotherapeutic agents), at the discretion of the investigator.
- Any condition that, in the opinion of the investigator, contraindicates participation in this study.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols
Time frame: Duration of participant enrollment
Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols. To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.
Identification of genetic variants that are associated with PID.
Time frame: Duration of participant enrollment
To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.
1 secondary outcome
Identification of molecular and functional abnormalities associated with known or novel forms of PID (repository study).
Time frame: Duration of participant enrollment
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- Background: PubMed 23657403Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarstrom L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol. 2013 Aug;33(6):1078-87. doi: 10.1007/s10875-013-9901-6. Epub 2013 May 9.
- Background: PubMed 29226302Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11.
- Background: PubMed 23887241Milner JD, Holland SM. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Nat Rev Immunol. 2013 Sep;13(9):635-48. doi: 10.1038/nri3493. Epub 2013 Jul 26.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No. The primary focus of this study is to identify genetic variants associated with PID to achieve genetic and immunologic characterization of known or suspected disorders of the immune system
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ottavia M Delmonte, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Immunodeficiency, run by National Institute of Allergy and Infectious Diseases (NIAID) at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 20 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Italy, Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Pooi M Truong ((240) 669-2165, pooi.truong@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols (time frame: Duration of participant enrollment). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03610802, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026.