Genetic Basis of Primary Immunodeficiencies

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001788
First received: November 3, 1999
Last updated: June 7, 2014
Last verified: May 2014
  Purpose

The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others.

Patients will undergo screening history, physical examination, and clinical laboratory evaluation at referring institutions and tissue samples, or cell lines will be sent to the NIH. We will establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and study cytokine signal transduction in patient cell lines.


Condition
Immunologic Deficiency Syndrome

Study Type: Observational
Official Title: Molecular Basis of Primary Immunodeficiencies

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

Estimated Enrollment: 99999999
Study Start Date: October 1998
Detailed Description:

The purpose of this study is to evaluate patients with primary immunodeficiency disorders to identify patients with mutations of the genes for the following proteins: Jak3, STAT1, STAT4, interleukin-7, interleukin-7 receptor, interleukin-12 receptor subunits, and others. Patients will undergo screening history, physical examination, and clinical laboratory evaluation at referring institutions and tissue samples, or cell lines will be sent to the NIH. We will establish cell lines if necessary, prepare DNA and RNA for molecular genetic analysis and study cytokine signal transduction in patient cell lines.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

Samples from patients with known or suspected primary immunodeficiencies, including those treated with stem cell transplants or gene correction therapy, and their families will be accepted worldwide primarily from tertiary care centers that treat patients with such immunodeficiencies.

Such patients will have documented evidence of either opportunistic infection, recurrent infection, or unusually severe responses to infectious agents that cause mild illness in unaffected individuals.

Either patient-derived B cell lines or primary blood samples will be accepted although in some cases buccal swabs will also be accepted.

Samples will not be obtained from unaffected children.

Infants with SCID or other primary immunodeficiency will not be seen; their physicians will care them for and only clinical material will be sent on such patients.

Medically stable patients with mild to moderate immunodeficiency may be seen at the NIH.

EXCLUSION CRITERIA:

Inability to provide informed consent.

A presence of any medical condition that would, in the opinion of the investigators, confuse the interpretation of the study (e.g., HIV infection).

  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: NCT00001788

Contacts
Contact: Richard M Siegel, M.D. (301) 496-3761 siegelr@mail.nih.gov
Contact: Eric P Hanson, M.D. (301) 402-6776 hansonep@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Eric P Hanson, M.D. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00001788     History of Changes
Other Study ID Numbers: 990004, 99-AR-0004
Study First Received: November 3, 1999
Last Updated: June 7, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Cytokine
Stat
Jak
IL-12
Mutation
Immunodeficiency

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Immune System Diseases

ClinicalTrials.gov processed this record on September 18, 2014