Novel Genetic Disorders of the Immune System
2 other identifiers
observational
500
1 country
1
Brief Summary
Background: \- The immune system helps the body fight infection and disease. People with immune system problems can get infections, blood disorders, and other health problems. Researchers want to learn more about the immune system, like what causes it to not work properly. Objectives: \- To evaluate people with certain types of immune system disorders. Eligibility: \- Adults and children with an immune disorder or symptoms of one, and their relatives. Some disorders are not included in this study. Design:
- Researchers will review participants medical records.
- Participants may mail in a blood or saliva sample, or be evaluated at the clinic. At the clinic, they may have a medical history, physical exam, blood tests, and imaging scans (with dye given through a needle in the arm). They may have genetic testing done on a sample of blood, saliva, hair, or nail clipping.
- Participants may choose to have a skin biopsy. Up to 2 skin samples will be taken from their arm, back, or other area. A biopsy punch is inserted into the skin and rotated. A small circle of skin is removed.
- Participants 10 and older may also choose to have leukapheresis. Blood is taken through a needle in one arm. It passes through a machine that separates the white blood cells. The rest of the blood is returned by needle in the other arm.
- Researchers may recommend medicines, but no treatments are being studied.
- Participants may be invited to return for visits over several years. At those visits, they may repeat some or all of the above tests. Or they may mail in blood or other samples. They may also send medical records.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Oct 2014
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
October 4, 2014
CompletedFirst Posted
Study publicly available on registry
October 7, 2014
CompletedStudy Start
First participant enrolled
October 22, 2014
CompletedPrimary Completion
Last participant's last visit for primary outcome
August 30, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
August 30, 2026
April 24, 2026
January 7, 2026
11.9 years
October 4, 2014
April 23, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
discover novel genes in undiagnosed immune disorders
Determination of a discrete genotype-phenotype association leading to a diagnosis and understanding of the natural history of the patient s immune disorder, an underlying trait, or both.
ongoing
study the natural history of newly identified genetic disorders
Determination of a discrete genotype-phenotype association leading to a diagnosis and understanding of the natural history of the patient s immune disorder, an underlying trait, or both.
ongoing
Study Arms (2)
Patients
Affected patients, with symptoms or genetic mutation
Unaffected/healthy relatives
Relatives without symptoms or genetic mutation
Eligibility Criteria
No limitations. Generally patients are referring by physicians within the US and Canada
You may qualify if:
- Patient and relatives aged 0-99 years old to include women who are pregnant or breastfeeding. Only patients \>2 years of age, in stable clinical status and meeting the weight requirement of the NIH CC will be physically evaluated at the NIH CC.
- Willingness to allow storage of blood, saliva, and other tissue specimens for future use in medical research.
- Willingness to participate in genetic testing and allow sharing of genetic information in secure databases like dbGAP. These tests may include, but are not limited to, whole exome and whole genome sequencing.
- Priority may be given to individuals with a family history (if readily available) suggestive of multiple affected members with a constellation of signs and symptoms suggestive of immune dysfunction among first- or second-degree relatives.
- Eligibility of special populations
- A. NIH employees are eligible
- they can provide important controls, genetic reference and historic clinical information. This protocol is not actively seeking women who are pregnant.
- C. Pediatric populations are eligible, with restrictions, in order to learn about the natural history of the immune disorders under investigation and to provide diagnostic work up for their ongoing clinical care. Healthy pediatric relatives can provide important diagnostic and genetic reference for affected patients.
- Pediatric populations are eligible, with restrictions, in order to learn about the natural history of the immune disorders under investigation and to provide diagnostic work up for their ongoing clinical care. Healthy pediatric relatives can provide important diagnostic and genetic reference for affected patients.
- Patients must have:
- An identified genetic basis for an immune disorder or signs and symptoms suggestive of clinically significant immune dysregulation and/or immunodeficiency manifesting with features including but not limited to autoimmunity, autoinflammatory conditions, lymphadenopathy, end-organ dysfunction, unusual infections, allergies, or laboratory abnormalities consistent with immune dysregulation.
- A primary physician outside of the NIH and will be required to submit a letter or clinical summary from their referring physician that documents their relevant health history.
You may not qualify if:
- Patients will be excluded for any of the following:
- Known genetic disorders that are already well characterized, such as severe combined immunodeficiency (SCID), chronic granulomatous disease (CGD), etc., and those in which we do not have an enduring research interest in the LCIM.
- Patients with unknown immune disorders will be excluded if they have received chemotherapy within the last 6 months for a malignancy or have infections such as HIV or mycobacterial infections.
- Severe clinical illness requiring highly specialized teams and institutions. The NIH may not be able to provide appropriate care for certain referred cases. The Principal Investigator (PI) may determine that the patient is eligible for enrollment but ineligible for admission to the Clinical Center. Patients and relatives with certain obstetric issues may pose a safety risk for travel and evaluation here. Eligibility for this group will be determined on a case by case basis by the PI.
- Patients with well-defined autoimmune conditions such as systemic lupus erythematosus (SLE), Hashimoto s thyroiditis, Addison s disease, Graves disease, sarcoidosis and rheumatoid arthritis, among others.
- Blood relatives will be excluded for the following:
- Any condition which in the opinion of the investigator may interfere with evaluation of an immune system abnormality that is the subject of study under this protocol.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Links
Study Officials
- PRINCIPAL INVESTIGATOR
V. Koneti Rao, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
October 4, 2014
First Posted
October 7, 2014
Study Start
October 22, 2014
Primary Completion (Estimated)
August 30, 2026
Study Completion (Estimated)
August 30, 2026
Last Updated
April 24, 2026
Record last verified: 2026-01-07