Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

This study has been terminated.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00266513
First received: December 16, 2005
Last updated: August 20, 2013
Last verified: July 2013
  Purpose

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:

  1. X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
  2. NEMO associated immune deficiency which is caused by an abnormality in a gene called NEMO.
  3. Common variable immunodeficiency (CVID) which has an unknown genetic basis.
  4. Other disorders of immunoglobulin production.

This study will:

  1. Better characterize the clinical features of CD40 L deficiency and NEMO associated immune deficiency and other related primary immune deficiency syndromes.
  2. Determine the frequency of CD40 L and Nemo abnormalities.
  3. Determine whether particular abnormalities in these genes are associated with more of less severe illness or with specific symptoms.
  4. Explore the basic mechanism by which these altered genes cause immune dysfunction.
  5. Identify other genes causing low immune globulin levels and related primary immune deficient states.

Condition
Hyper-IgM Syndrome
Ectodermal Dysplasia

Study Type: Observational
Official Title: Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 119
Study Start Date: December 2005
Estimated Study Completion Date: July 2013
Detailed Description:

This protocol is designed to study the genetics and pathophysiology of Hyper-IgM syndrome, NEMO associated immune deficiency, patients with related primary immune deficiency disorders, and the blood relatives of immunodeficient patients. Patients will undergo evaluations that include history/physical, blood sampling, genetic testing, and possible tissue sampling. Among the aims of this protocol are to better understand genetic factors that lead to defects in host defense, and to use modern and evolving methods in molecular and cellular biology to elucidate the pathogenesis of these diseases. A better understanding of primary immunodeficiency could allow for the rational development of novel therapies for such diseases and to benefit future patients, but it might not benefit current patients directly. Routine follow-up may occur every six months - with evaluation and blood sampling. Under some circumstances, we may provide treatment that relates to the immune deficiency. These treatments will follow standard medical practice.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • 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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00266513

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Investigators
Principal Investigator: Ashish K Jain, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00266513     History of Changes
Other Study ID Numbers: 060049, 06-I-0049
Study First Received: December 16, 2005
Last Updated: August 20, 2013
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
CD40 Ligand
Nemo
Genetics
Hyper-IGM
Ectodermal Dysplasia
CVID
Hyper-IgM Syndrome
Primary Immune Deficiency Disorders
Common Variable Immune Deficiency

Additional relevant MeSH terms:
Ectodermal Dysplasia
Immunologic Deficiency Syndromes
Syndrome
Hyper-IgM Immunodeficiency Syndrome
Hyper-IgM Immunodeficiency Syndrome, Type 1
Immune System Diseases
Disease
Pathologic Processes
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Dysgammaglobulinemia
Blood Protein Disorders
Hematologic Diseases
Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on September 22, 2014