RECRUITING

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

Conditions

Primary Immunodeficiency Immunophenotyping Functional Assays Repository HLA-Typing Next Generation Sequencing Natural History

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2019-07-22

Study Completion:2038-03-31

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT03610802

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Day to 99 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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.	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. * 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.

Inclusion Criteria

Exclusion 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.

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.
* 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.

Contacts and Locations

Study Contact

Pooi M Truong

CONTACT

(240) 669-2165

pooi.truong@nih.gov

Ottavia M Delmonte, M.D.

CONTACT

(240) 669-5473

ottavia.delmonte@nih.gov

Principal Investigator

Ottavia M Delmonte, M.D.

PRINCIPAL_INVESTIGATOR

National Institute of Allergy and Infectious Diseases (NIAID)

Study Locations (Sites)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892

United States

Collaborators and Investigators

Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2019-07-22

Study Completion Date2038-03-31

Study Record Updates

Study Start Date2019-07-22

Study Completion Date2038-03-31

Terms related to this study

Keywords Provided by Researchers

Immunophenotyping
Functional Assays
Repository
HLA-Typing
Next Generation Sequencing
Natural History

Additional Relevant MeSH Terms

Primary Immunodeficiency