Back to search results

Understanding Primary Immunodeficiencies Through Sample Collection

This observational study aims to understand what causes primary immunodeficiency disorders (PIDs), which are diseases that make it easier for people to get sick. Researchers will collect samples (like blood or tissue) from individuals with a known or suspected PID, or from their relatives. By analyzing these samples, the study hopes to identify genetic changes linked to PIDs and find individuals who might benefit from other NIH studies. This study is open to people of all ages (1 day to 99 years old) who have a PID or a family member with a PID. The goal is to improve our understanding of these conditions and potentially guide future treatments.

Study design
This is an observational study planning to enroll up to 3000 participants. It involves collecting samples to understand primary immunodeficiency disorders.
What's involved
You will provide biological samples, such as blood or tissue, which you will send in. You will not need to visit the NIH for study appointments.
Compensation
Not stated in the trial record.
Follow-up
The study will identify genetic variants and patients with immune system abnormalities during the entire period you are enrolled.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03610802

Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies

Recruiting
Not specifiedAges 1–99Observational
National Institute of Allergy and Infectious Diseases (NIAID)
~3,000 participants
Updated 2026-07-23 on ClinicalTrials.gov

At a glance

Recruiting sites
3 of 3 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocols
Measured over Duration of participant enrollment
+1 more outcome measured

Conditions

Primary Immunodeficiency

Explore related trials

Inborn Error of Immunity

Where it's being run

3 sites across 3 states
Maryland1
Italy1
Turkey (Türkiye)1

Study leadership

  • Ottavia M Delmonte, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Allergy and Infectious Diseases (NIAID)

Who to contact

Pooi M Truong
[email protected]
(240) 669-2165
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

Do you actually qualify for this trial?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
Eligibility criteria

Exclusion

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.
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.

What this trial measures

  • Identification of patients with abnormalities of the immune system that may be enrolled in other NIH protocolsDuration 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.Duration of participant enrollment

    To achieve genetic and immunologic characterization of known or suspected disorders of the immune system.