Understanding Hyper IgE Recurrent Infection Syndrome
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
This study is looking for patients and families with Hyper IgE Syndrome to see how their symptoms are linked to genetic changes and to learn more about managing the condition over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 600 (estimated) |
| Ages | 1 Month to 120 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00006150 on ClinicalTrials.gov |
What this trial studies
This study focuses on the Hyper IgE Syndromes (HIES), which are primary immunodeficiencies characterized by eczema and recurrent infections. It aims to enroll patients and families with confirmed or suspected HIES for extensive phenotypic and genotypic analysis. The research will investigate the clinical manifestations associated with mutations in the STAT3 gene and other genetic factors contributing to HIES. Patients will be examined by a multidisciplinary team and followed over time to better understand the disease's natural history and management.
Who should consider this trial
Good fit: Ideal candidates include individuals with a confirmed or suspected diagnosis of Hyper IgE syndrome, as well as their unaffected biological relatives.
Not a fit: Patients without a diagnosis or suspicion of Hyper IgE syndrome or those with contraindications to participation may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of Hyper IgE syndrome, potentially enhancing patient outcomes.
How similar studies have performed: Other studies have explored aspects of immunodeficiencies, but this specific focus on HIES and its genetic underpinnings is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* 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. * \>=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. EXCLUSION CRITERIA: 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Alexandra F Freeman, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Jean M Ulrick
- Email: julrick@niaid.nih.gov
- Phone: (301) 221-0855
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.