Trial record 1 of 1 for:    "Absent T lymphocytes"
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Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ Lymphocytopenia

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2013 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00867269
First received: March 20, 2009
Last updated: June 5, 2014
Last verified: October 2013
  Purpose

Background:

  • Idiopathic CD4+ lymphocytopenia (ICL) is a condition in which there is a decreased level of CD4+ lymphocytes (a type of white blood cell), which can lead to opportunistic infections or autoimmune disorders and diseases.

Objectives:

  • To characterize the natural history with regard to CD4+ T cell count and onset of infection, malignancy, and autoimmunity.
  • To describe the immunological status of patients affected by ICL while providing the best possible standard therapy to eradicate opportunistic infections.
  • To establish the timeline of CD4 lymphocytopenia, with particular focus on defining subgroups of patients according to the decline, stabilization, or rise of CD4+ T cell counts over time.
  • To characterize the opportunistic infections that occur in ICL patients at microbiologic and molecular levels.
  • To characterize the immunophenotype and possible genetic immunodeficiency causes of ICL.
  • To determine whether measurable immunologic parameters correlate with the development of opportunistic infections or other comorbidities such as lymphoma in patients with ICL.
  • To determine whether there is any association between ICL and autoimmunity.
  • To determine CD4+ T cell turnover, survival, functionality, and cytokine responsiveness in ICL patients.

Eligibility:

  • Patients 2 years of age and older with an absolute CD4 count less than 300 in children 6 years or older and adults or less than 20% of T cells in children younger than 6 on two occasions at least 6 weeks apart.
  • Patients with negative results of HIV testing by ELISA, Western Blot, and viral load.
  • Patients must not have underlying immunodeficiency conditions, be receiving cytotoxic chemotherapy (anti-cancer drugs that kill cells), or have cancer.

Design:

  • At the initial visit to the National Institutes of Health, the following evaluations will be conducted:
  • Personal and family medical histories.
  • Physical examination, including rheumatology evaluation and other consultations as medically indicated (e.g., dermatology, pulmonology, ophthalmology, imaging studies).
  • Blood samples for analysis of red and white blood cell counts, liver function, immune hormones, and antibody and autoantibody levels, white blood cell growth and function, and DNA.
  • Urinalysis and urine pregnancy testing for female patients of childbearing age.
  • Evaluation and treatment of active infections as medically indicated, including biopsies, buccal swabs, pulmonary function tests, and imaging studies.
  • Follow-up visits will take place approximately every 12 months or more frequently if indicated, and will continue for a minimum of 4 years and a maximum of 10 years.
  • Evaluations at follow-up will include blood samples (i.e., CBC with differential, biochemical profile, HIV testing, etc.) and urinalysis and rheumatology consults.

Condition
Idiopathic CD4+ Lymphocytopenia
Cryptococcal Meningitis
Warts

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Etiology, Pathogenesis, and Natural History of Idiopathic CD4+ Lymphocytopenia

Resource links provided by NLM:


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

Estimated Enrollment: 200
Study Start Date: March 2009
Detailed Description:

Idiopathic CD4+ lymphocytopenia (ICL) is a disorder characterized by decreased numbers of circulating CD4+ T lymphocytes in the absence of known causes of CD4+ lymphocytopenia. ICL is defined as an absolute CD4+ T cell count of less than 300 cells/mL in a patient with no human immunodeficiency virus infection or known immunodeficiency syndrome. The causes and frequency of the disorder remain unknown. The condition is typically diagnosed when patients present with a serious infection. In this natural history protocol, we will evaluate patients with CD4+ T cell counts below 300 cells/microL. We propose to follow 200 patients for a minimum of 4 and maximum of 14 years, with a particular focus on the association between ICL and autoimmune disease. We will collect blood for immunologic, rheumatologic, and genetic testing in an effort to identify and understand the underlying defects that cause ICL and follow its course in a cohort of patients who will receive best standard therapy for opportunistic infections.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

To be eligible for this study, patients must satisfy all of the following inclusion criteria:

  • Age greater than or equal to 18 years
  • Absolute CD4 count < 300 cells/microL or < 20% of total T cells on at least two occasions at least 6 weeks apart
  • Ongoing care by a referring primary care physician
  • Willingness to allow storage of blood and tissue samples for future analysis

EXCLUSION CRITERIA:

Patients will be ineligible for this study if they satisfy any of the following criteria:

  • Known infection with HIV-1, HIV-2, or human T-cell lymphotropic viruses (HTLV-1 or HTLV-2) as demonstrated by ELISA and Western blot and/or viral load testing
  • Known underlying immunodeficiency syndrome other than ICL
  • Evidence of active malignancy
  • Receipt of medications, herbal substances, or biologic agents known to diminish the CD4+ count within 30 days of when the CD4+ lymphocytopenia was detected
  • Any condition that in the judgment of the investigators would place the subject at undue risk or compromise the results of the study.
  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: NCT00867269

Contacts
Contact: Gregg A Roby, R.N. (301) 435-8008
Contact: Virginia M Sheikh, M.D. (301) 435-7939 sheikhv@niaid.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: Virginia M Sheikh, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00867269     History of Changes
Other Study ID Numbers: 090102, 09-I-0102
Study First Received: March 20, 2009
Last Updated: June 5, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Idiopathic Lymphocytopenia
Opportunistic Infection
Immunodeficiency Syndrome
Autoimmune Disease
CD4+ Lymphocytes
Idiopathic CD4 Lymphocytopenia

Additional relevant MeSH terms:
Meningitis
Meningitis, Cryptococcal
Lymphopenia
Central Nervous System Infections
Central Nervous System Diseases
Nervous System Diseases
Meningitis, Fungal
Central Nervous System Fungal Infections
Mycoses
Cryptococcosis
Leukopenia
Leukocyte Disorders
Hematologic Diseases
Immunologic Deficiency Syndromes
Immune System Diseases

ClinicalTrials.gov processed this record on September 18, 2014