Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection
|First Received Date ICMJE||August 8, 2000|
|Last Updated Date||May 1, 2013|
|Start Date ICMJE||August 2000|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00006150 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Study of Clinical Features and Genetics of Hyperimmunoglobulin E Recurrent Infection|
|Official Title ICMJE||Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)|
The study will evaluate patients with hyperimmunoglobulin E (HIE) recurrent infection in order to characterize the medical problems associated with this rare inherited disease, identify and treat complications, and do tests to identify the gene, or genes responsible for it. People with HIE have recurrent bacterial (staphylococcal) infections of the ears, sinuses, lungs or skin and elevated levels of the antibody immunoglobulin E. They may also have scoliosis (curvature of the spine), weak bones and recurrent bone fractures, strokes or other brain problems, severe itching and skin inflammation, and problems with baby teeth not falling out.
Patients of any age with HIE syndrome and their relatives may participate in this study. Patients will be evaluated by specialists in genetics, dermatology, bone metabolism, dental, radiology, neurology and immunology. Specific procedures may include the following:
Patients will be followed once a year for five years. At each visit, they will have a MRI scan of the brain, CT scan of the chest, bone densitometry test, skin examination and dental examination. Patients with scoliosis will all have spine films.
Family members will have a physical examination, an interview with genetics specialists, and blood tests for cell counts, measurement of immunoglobulin E, and genetic studies. Some family members will also have cell lines made.
Hyper IgE Syndrome (HIE) is an autosomal dominant disorder caused primarily by STAT3 mutations with extensive skeletal and connective tissue manifestations. Whether STAT3 is the only genetic etiology remains unknown, as well as the etiology of related disorders, such as autosomal recessive Hyper IgE Syndrome. HIE affects a large number of tissues and functions, and is critical to our complete understanding of bone metabolism, bronchiectasis, dental maturation, and stroke. Therefore, we seek to enroll patients and families with a confirmed or suspected diagnosis of HIE syndrome for extensive phenotypic and genotypic study as well as disease management. Patients will be carefully examined by a multidisciplinary team and followed longitudinally. Through these studies we hope to better characterize the clinical presentation of HIE and to be able to identify further genetic etiologies, as well as understand the pathogenesis of HIE. We seek to enroll 200 patients and 300 relatives.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Condition ICMJE||Job's Syndrome|
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||500|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
Patients must be referred to the NIH with a diagnosis or a suspicion of Job Syndrome. Family members of probands and patients referred for other immune syndromes that demonstrate some the characteristics of Job's syndrome syndrome may also be evaluated under this protocol.
Male and female patients will be accepted.
Pregnant women are excluded only from any procedure or test that may endanger the pregnancy or the fetus due to the risk from radiographic studies, anesthesia, or certain biopsies.
Coronary CT angiography will not be performed on any patient with contraindication to IV contrast media. This includes patients with: 1) creatinine value of greater than 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.
|Accepts Healthy Volunteers||No|
|Location Countries ICMJE||United States|
|NCT Number ICMJE||NCT00006150|
|Other Study ID Numbers ICMJE||000159, 00-I-0159|
|Has Data Monitoring Committee||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor ICMJE||National Institute of Allergy and Infectious Diseases (NIAID)|
|Collaborators ICMJE||Albert Einstein College of Medicine of Yeshiva University|
|Information Provided By||National Institutes of Health Clinical Center (CC)|
|Verification Date||February 2013|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP