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Trial record 3 of 3 for:    robert colbert | Recruiting Studies

Genetic Basis of Primary Immunodeficiencies

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ClinicalTrials.gov Identifier: NCT00001788
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : November 8, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) )

Tracking Information
First Submitted Date November 3, 1999
First Posted Date November 4, 1999
Last Update Posted Date November 8, 2019
Actual Study Start Date August 21, 2011
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: October 11, 2019)
  • Natural History of Immunologic Deficiency Syndrome [ Time Frame: Enrollment with follow-up ]
    The objectives of the study are: (1) To identify new patients with Jak3 deficiency to determine the range of mutations that occur, to study these mutations in in vitro assays and to relate these findings to the clinical presentation. We will also try to develop improved assays for the diagnosis of Jak3 deficiency. (2) To analyze the function of lymphoid and myeloid cells from patients who have undergone stem cell transplants for Jak3- and XSCID (3) To analyze patients with TB+SCID without mutations of Jak3 and c for mutations in IL- 7, IL-7 receptor genes. (4) To analyze patients with defects in cell-mediated immunity to try to identify patients with mutations of the genes encoding IL-12 subunits, IL-12 receptor subunits and the transcription factors Stat1, Stat 4 and IRF.
  • Natural History of Immunologic Deficiency Syndrome [ Time Frame: Enrollment with follow-up ]
    The objectives of the study are: (5) To analyze patients, including their tissues and cells, with defects in innate immunity, adaptive immunity, or both who clinically present with features suggestive of NEMO Syndrome or NEMO-like syndrome to identify individuals with mutations in IKK (NEMO), IB, and other genes that modify the expression and function of NFB family members.
  • Natural History of Immunologic Deficiency Syndrome [ Time Frame: Enrollment with follow-up ]
    The objectives of the study are: (6) To perform whole genome, exome, or chemical analysis of genes in selected patients and family members to discover new primary immunodeficiency related genes. Whole genome, exome, or other gene analysis will be done to determine which particular genetic variations can cause the various primary immunodeficiencies such as JAK3 deficiency or NEMO Syndrome. We also seek to study whether particular variations are associated with more or less severe illness, or with specific types of symptoms, to understand the basic mechanism by which these altered genes cause cells to function differently, and to identify other genes causing SCID or NEMO-like syndrome. In order to do this, we need blood specimens (or cells from inside the cheek) from patients and their families. We will use these samples to identify which, if any, abnormality is present in the patient s genes, and to study the behavior of immune cells in vitro.
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00001788 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetic Basis of Primary Immunodeficiencies
Official Title Molecular Basis of Primary Immunodeficiencies
Brief Summary

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.

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.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population (1) Patients will be examined at the NIH where relevant samples will be collected for analysis.(2) Patients will be examined by outside physicians and relevant patient history and physical results and samples sent to the NIH for evaluation.(3) Patients samples may be sent to us from Duke University Medical Center, a tertiary center with extensive experience in diagnosis and treatment of primary immunodeficiencies.(4) In the future, patient samples may be sent from other tertiary care centers not identified at this time.(5) Family members of patients with primary immunodeficiencies, if they or their parents/guardians request, may be evaluated at the discretion of the investigators.
Condition Immunologic Deficiency Syndrome
Intervention Not Provided
Study Groups/Cohorts 1
patients with primary immunodeficiency disorders
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: May 24, 2019)
10000
Original Enrollment
 (submitted: June 23, 2005)
999
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility 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. In selected cases, at the discretion of the investigators, samples for testing will be obtained from consenting adult relatives of affected individuals.

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

Blood samples may be obtained from unaffected children.

Additionally; patients with particularly interesting clinical presentations (e.g. adults with possible attenuated immunodeficiency) may be seen for outpatient visits at the NIH Clinical Center for evaluation.

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.

We will encourage the participation of women and members of minority groups in this study.

Pregnant women will be allowed to participate with all protections afforded by OHSRP SOP 14B ( Research Involving Pregnant Women, Human Fetuses and Neonates ), although any subsections of the protocol that are deemed clinically contraindicated will not be performed. The same consideration will be applied to women who become pregnant after enrollment.

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.

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts
Contact: Eric P Hanson, M.D. (301) 827-9401 hansonep@mail.nih.gov
Contact: Robert A Colbert, M.D. (301) 443-8935 colbertr@mail.nih.gov
Listed Location Countries United States
Removed Location Countries Italy
 
Administrative Information
NCT Number NCT00001788
Other Study ID Numbers 990004
99-AR-0004
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) )
Study Sponsor National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Collaborators Not Provided
Investigators
Principal Investigator: Robert A Colbert, M.D. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date October 9, 2019