Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
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|ClinicalTrials.gov Identifier: NCT00006150|
Recruitment Status : Recruiting
First Posted : August 9, 2000
Last Update Posted : May 25, 2023
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|Condition or disease|
|Infections Pneumonia Immune System Diseases STAT3 Transcription Factor Job Syndrome|
|Study Type :||Observational|
|Estimated Enrollment :||600 participants|
|Official Title:||Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)|
|Actual Study Start Date :||August 10, 2000|
Affected adults and children
Confirmed or suspected history of a Hyper IgE syndrome
Family members of subjects with confirmed or suspected history of a Hyper IgE syndrome
- To clinically phenotype AD-HIES, DOCK8 deficiency, PGM3 deficiency and other related hyper IgE syndromes [ Time Frame: end of study ]established clinical phenotype of AD-HIES, DOCK8 deficiency, PGM3 deficiency and other related hyper IgE syndromes
- To assess quality of life on the basis of clinical and immunologic evaluations [ Time Frame: end of study ]quality of life assessments based on clinical and immunologic evaluations
- To understand the pathogenesis of the immunologic defect in hyper IgE syndromes as well as the diverse clinical features such as wound healing abnormalities [ Time Frame: end of study ]understanding of the pathogenesis of the immunologic defect in hyper IgE syndromes as well as the diverse clinical features such as wound healing abnormalities
- To identify, characterize, and treat complications of the hyper IgE syndromes as they arise [ Time Frame: end of study ]identification, characterization, and treatment of complications of the hyper IgE syndromes
- To identify novel genetic defects leading to hyper IgE syndromes. [ Time Frame: end of study ]identified novel genetic defects leading to hyper IgE syndromes.
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|Ages Eligible for Study:||1 Month and older (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||Yes|
|Sampling Method:||Non-Probability Sample|
- INCLUSION CRITERIA:
Patients may be included in this study who:
- Were referred to the NIH with a diagnosis or a suspicion of Hyper IgE syndrome.
- Are patients referred for other immune syndromes that demonstrate some of the characteristics of HIES.
- Are male or female, aged
- >=1 month for affected subjects
Aged >=2 years for unaffected subjects
- For unaffected subjects, are able to understand and have the willingness to sign a written informed consent document.
Unaffected biological relatives of HIES patients are also eligible to enroll in a separate relative cohort.
Coronary CTA will not be performed on any patient younger than 30 years or with contraindication to IV contrast media. This includes patients with 1) creatinine value of >1.3 mg/dL, 2) history of multiple myeloma, 3) Use of metformin-containing products less than 24 hours prior to contrast media, and 4) history of significant allergic reaction to CT contrast agents despite the use of premedication.
Subjects with a medical, psychiatric, or social condition which, in the opinion of the investigator, would place undue burden on the subject, NIH resources, or increase risk of participation, may be excluded.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00006150
|Contact: Christine J Lafeer, R.N.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY dial 711 firstname.lastname@example.org|
|Principal Investigator:||Alexandra F Freeman, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|
|Responsible Party:||National Institute of Allergy and Infectious Diseases (NIAID)|
|Other Study ID Numbers:||
|First Posted:||August 9, 2000 Key Record Dates|
|Last Update Posted:||May 25, 2023|
|Last Verified:||May 19, 2023|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Yes|
|Plan Description:||.We will share human data generated in this study for future research as follows:@@@@@@Identified data in the Biomedical Translational Research Information System (BTRIS, automatic for activities in the NIH CC)@@@@@@De-identified or identified data with approved outside collaborators under appropriate agreements@@@@@@Data will be shared through: @@@@@@BTRIS (automatic for activities in the NIH CC)@@@@@@Approved outside collaborators under appropriate individual agreements@@@@@@Publication and/or public presentations.@@@@@@Data might be shared before publication.|
Informed Consent Form (ICF)
|Time Frame:||IPD is available in real time in BTRIS.|
|Access Criteria:||Identified data in the Biomedical Translational Research Information System (BTRIS, automatic for activities in the NIH CC) are available indefinitely.@@@@@@De-identified or identified data with approved outside collaborators under appropriate agreements|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Hyperimmunologobulin E Syndrome
Immunologic Deficiency Syndromes
Immune System Diseases
Phagocyte Bactericidal Dysfunction
Primary Immunodeficiency Diseases
Genetic Diseases, Inborn