Send-In Sample Collection to Achieve Genetic and Immunologic Characterization of Primary Immunodeficiencies
Launched by NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES (NIAID) · Jul 31, 2018
Trial Information
Current as of July 22, 2025
Recruiting
Keywords
ClinConnect Summary
This clinical trial is looking into primary immunodeficiency disorders (PIDs), which are conditions that weaken the immune system and make it harder for the body to fight infections. By studying samples from people with PIDs or their family members, researchers hope to understand what causes these disorders. This information can help doctors decide on the best treatments for those affected.
To participate in the trial, you need to be between the ages of 0 and 99 and either have a PID or be a close family member of someone who does. Participants will provide different types of samples, such as blood, saliva, urine, or cheek swabs, which will be collected in a simple and safe way. The trial is currently recruiting participants, and taking part will involve providing some health information and consent for genetic testing. This research is important as it could lead to better understanding and management of PIDs in the future.
Gender
ALL
Eligibility criteria
- * INCLUSION CRITERIA:
- Participants enrolled onto this protocol must meet all of the following criteria:
- • 1. Age 0-99 years.
- 2. Meets 1 of the following criteria:
- • 1. 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.
- • 2. 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.
- INCLUSION/EXCLUSION OF SPECIAL POPULATIONS:
- • 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.
About National Institute Of Allergy And Infectious Diseases (Niaid)
The National Institute of Allergy and Infectious Diseases (NIAID) is a key component of the National Institutes of Health (NIH) dedicated to advancing the understanding, prevention, and treatment of infectious and immune-mediated diseases. Through rigorous clinical trials, NIAID aims to foster innovative research that enhances public health and addresses global health challenges, including emerging infectious diseases and allergies. The institute collaborates with various partners, including academic institutions, industry, and international organizations, to translate scientific discoveries into effective therapies and vaccines. NIAID's commitment to high-quality clinical research is integral to improving health outcomes and informing policy decisions in the realm of infectious diseases and immunology.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Bethesda, Maryland, United States
Istanbul, , Turkey
Meram/Konya, , Turkey
Pavia, , Italy
Patients applied
Trial Officials
Ottavia M Delmonte, M.D.
Principal Investigator
National Institute of Allergy and Infectious Diseases (NIAID)
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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