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Protocol Details

Molecular Basis of Primary Immunodeficiencies

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

99-AR-0004

Sponsoring Institute

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: N/A
Max Age: N/A

Referral Letter Required

Yes

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Cytokine;
Stat;
Jak;
IL-12;
Mutation

Recruitment Keyword(s)

Immunodeficiency

Condition(s)

Immunologic Deficiency Syndrome

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Arthritis and Musculoskeletal and Skin Diseases

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.

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Eligibility

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.


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Citations:

Naturally occurring primary deficiencies of the immune system

Functional diversity of helper T lymphocytes

Candotti F, Notarangelo L, Visconti R, O'Shea J Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways J Clin Invest 2002 May;109(10):1261-9

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Contacts:

Principal Investigator

Referral Contact

For more information:

Robert A. Colbert, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
BG 10-CRC RM 1-5142
10 CENTER DR
BETHESDA MD 20814
(301) 443-8935
colbertr@mail.nih.gov

Eric P. Hanson, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
BG 10 RM 13C217
10 CENTER DR
BETHESDA MD 20814
(301) 827-9401
hansonep@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001788

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