- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00266513
Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients.
The specific disorders include:
- X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
- NEMO associated immune deficiency which is caused by an abnormality in a gene called NEMO.
- Common variable immunodeficiency (CVID) which has an unknown genetic basis.
- Other disorders of immunoglobulin production.
This study will:
- Better characterize the clinical features of CD40 L deficiency and NEMO associated immune deficiency and other related primary immune deficiency syndromes.
- Determine the frequency of CD40 L and Nemo abnormalities.
- Determine whether particular abnormalities in these genes are associated with more of less severe illness or with specific symptoms.
- Explore the basic mechanism by which these altered genes cause immune dysfunction.
- Identify other genes causing low immune globulin levels and related primary immune deficient states.
Study Overview
Status
Conditions
Detailed Description
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
Maryland
-
Bethesda, Maryland, United States, 20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- ADULT
- OLDER_ADULT
- CHILD
Accepts Healthy Volunteers
Genders Eligible for Study
Description
- INCLUSION CRITERIA:
All patients must have a known or suspected immune defect with hyper-IgM syndrome and/or disorders of immunoglobulin production. There will be no limit on age, sex, race, or disability. Normal volunteers must be healthy adults between the age of 18 and 70 years. All study participants enrolled on to this study must agree to allow PI to store research samples. Refusal to let PI store samples may lead to withdrawal fro this specific study.
EXCLUSION CRITERIA:
The presence of an acquired abnormality, which leads to immune defects, such as HIV, chemotherapy, and malignancy are general exclusion criteria. Refusal to let us store samples may lead to withdrawal from this specific study. Other factors, which are in the judgment of the Principal Investigator PI that may interfere with patient evaluation or determine to pose an added risk for study participants are also criteria for exclusion.
Study Plan
How is the study designed?
Collaborators and Investigators
Investigators
- Principal Investigator: Ashish K Jain, M.D., National Institute of Allergy and Infectious Diseases (NIAID)
Publications and helpful links
General Publications
- Durandy A, Revy P, Imai K, Fischer A. Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol Rev. 2005 Feb;203:67-79. doi: 10.1111/j.0105-2896.2005.00222.x.
- Jain A, Atkinson TP, Lipsky PE, Slater JE, Nelson DL, Strober W. Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. J Clin Invest. 1999 Apr;103(8):1151-8. doi: 10.1172/JCI5891.
- Durandy A, Revy P, Fischer A. Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). Adv Immunol. 2004;82:295-330. doi: 10.1016/S0065-2776(04)82007-8. No abstract available.
Study record dates
Study Major Dates
Study Start
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ACTUAL)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Skin Diseases
- Immunologic Deficiency Syndromes
- Immune System Diseases
- Congenital Abnormalities
- Hematologic Diseases
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Blood Protein Disorders
- Skin Diseases, Genetic
- Skin Abnormalities
- Abnormalities, Multiple
- Dysgammaglobulinemia
- Primary Immunodeficiency Diseases
- Ectodermal Dysplasia
- Hyper-IgM Immunodeficiency Syndrome
- Hyper-IgM Immunodeficiency Syndrome, Type 1
Other Study ID Numbers
- 060049
- 06-I-0049
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Ectodermal Dysplasia
-
Edimer PharmaceuticalsCompletedX-linked Hypohidrotic Ectodermal DysplasiaUnited States
-
Edimer PharmaceuticalsActive, not recruitingX-linked Hypohidrotic Ectodermal DysplasiaUnited States, United Kingdom, France, Germany, Italy
-
University Hospital ErlangenEdimer PharmaceuticalsCompletedX-linked Hypohidrotic Ectodermal DysplasiaGermany
-
EspeRare FoundationIqvia Pty Ltd; Pierre Fabre MedicamentRecruitingX-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)United States, Spain, France, Germany, Italy, United Kingdom
-
Edimer PharmaceuticalsCompletedX-linked Hypohidrotic Ectodermal Dysplasia | Hypohidrotic Ectodermal DysplasiaUnited States
-
Edimer PharmaceuticalsCompletedX-linked Hypohidrotic Ectodermal Dysplasia | Hypohidrotic Ectodermal DysplasiaSpain
-
Edimer PharmaceuticalsCompletedX-Linked Hypohidrotic Ectodermal DysplasiaUnited States, United Kingdom, France, Germany, Italy
-
Edimer PharmaceuticalsCompletedX Linked Hypohidrotic Ectodermal DysplasiaUnited States
-
Edimer PharmaceuticalsCompletedX-Linked Hypohidrotic Ectodermal DysplasiaUnited States, United Kingdom, France, Germany, Italy
-
Edimer PharmaceuticalsCompletedHypohidrotic Ectodermal Dysplasia | X-Linked Hypohidrotic Ectodermal DysplasiaUnited States