Evaluation of Patients With Immune Function Abnormalities

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00128973
First received: August 9, 2005
Last updated: August 20, 2014
Last verified: July 2014
  Purpose

This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up.

Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients' parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls.

Normal volunteers undergo a physical examination and provide blood, saliva, and urine samples for immune function studies. Patients' family members provide a medical history, have a physical examination, and give blood and urine samples, and possibly a saliva sample. The samples are used for genetic and routine laboratory studies. Investigators may request tissue samples, such as biopsy specimens, previously removed for medical reasons to be sent to NIH for study. Patients undergo the following tests and procedures:

  1. Medical history and physical examination.
  2. Blood and urine tests, including analysis for genes involved in immune disorders.
  3. Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek.
  4. Specialized tests to evaluate specific conditions in patients who have an immune disorder that might affect lung function, gum infections or eye problems. These may include chest x-ray, CT scan, breathing function test, dental, eye, and hearing examinations.
  5. Follow-up visits of patients with immune problems may occur at 6 months and at one year after the first visit (or more frequently if medically required) to include:

    • Medical history update
    • Physical examination
    • Follow-up on abnormal test results and medical treatments initiated at NIH
    • Collection of blood, saliva, urine, or wound drainage samples for repeat immune function studies
    • Tissue study of specimens removed for medical reasons at other institutions besides NIH

Condition
Immune System Diseases

Study Type: Observational
Official Title: Screening and Baseline Assessment of Patients With Abnormalities of Immune Function

Resource links provided by NLM:


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

Estimated Enrollment: 1400
Study Start Date: August 2005
Detailed Description:

This protocol is designed for the screening and baseline assessment of patients with abnormalities of immune function as manifested by recurrent or unusual infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. Abnormalities of immune function may be inherited or may be iatrogenic such as that following hematopoietic stem cell transplantation or other treatments resulting in prolonged immune dysfunction. Blood and/or bone marrow cells may also be used to investigate the utility of induced pluripotent stem cells (iPS) for immune cell derivation and targeted gene correction. This is not a protocol to study or screen for human immunodeficiency virus infection, though patients with HIV infection who may have other causes for immune dysfunction are not excluded. First or second degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles and first cousins of an affected patient) may also be screened for clinical, in vitro and genetic correlates of immune abnormalities. Healthy Volunteers will be enrolled as a source of control blood samples for research testing, not to include genetic testing. Screening and baseline assessment under the auspices of this study may be limited to two visits over one year period, unless the patient has been determined by initial evaluation to require further study at NIH or are ongoing long-term safety assessments as required by their participation on a gene therapy or transplant protocol. Patients with documented immune dysfunction may receive limited medically indicated treatment if that medically indicated treatment is related to the abnormality of immune function under study, with such treatment limited to the period of the one year baseline assessment indicated in this protocol. When screening and assessment is complete, patients will be offered an opportunity to participate in another study, or if there are no active studies appropriate for the patient, other options will be suggested to the primary or referring physician.

This protocol will allow detailed investigation of patients with abnormalities of immune function with up to one year of observation with the following goals:

  1. To determine the degree, scope and cause of immune dysfunction;
  2. To establish the pace and pattern of change in the disease process;
  3. To determine the extent of organ involvement and damage from immune dysfunction.

This screening and baseline assessment is necessary to discover new causes of immune abnormalities, to delineate epidemiology of immune deficiencies, to develop new diagnostic and therapeutic tools, and to determine a patient's eligibility for other studies.

  Eligibility

Ages Eligible for Study:   up to 90 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA:

Patients:

  • Patients with abnormalities of immune function as manifested by recurrent or unusual infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction are eligible for screening and baseline assessment under this protocol.
  • Of particular focus of this study are patients with clinical features or medical history suggestive of Chronic Granulomatous Disease (CGD), X-linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD) or chronic Graft versus Host Disease (cGvHD).
  • There will be no limit due to age, sex, race, or disability.
  • All patients must have a primary physician outside of the NIH.
  • All patients will be required to have blood stored for future studies (such as but not limited to the modification of cells into iPS cells), and/or other medical conditions.

Relatives of Patient:

  • Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient.
  • There is no limit due to age, sex, race or disability.
  • Must be willing to have blood stored for future studies and/or other research purposes.

Normal Volunteers must:

  • Be a healthy adult of either sex and between age of 18 and 85 years old.
  • Have a hemoglobin count of 11.
  • Weight greater than 110 pounds.
  • Not have any heart, lung, or kidney disease, or bleeding disorders.
  • Not have a history of viral hepatitis (B or C) since age 11.
  • Not have a history of intravenous injection drug use.
  • Not have a history of engaging in high-risk activities for exposure to the AIDS virus.
  • Not be pregnant.
  • Be willing to have their blood samples stored for future research and modified iPS cells.

EXCLUSION CRITERIA:

Patients:

  • The presence of certain types of acquired abnormalities of immunity solely due to HIV, chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a patient.
  • In the opinion of the investigator, the presence of such disease processes may interfere with the evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol.
  • Pregnant

Relatives of Patient:

  • The presence of certain types of acquired abnormalities of immunity solely due to HIV, chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a relative.
  • In the opinion of the investigator, the presence of such disease processes may interfere with evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol.

Normal Volunteer not eligible if:

  • Less than 18 years old or older than 85 years.
  • Have viral hepatitis (B or C).
  • Receiving chemotherapeutic agent(s), or have underlying malignancy.
  • Pregnant.
  • Have history of heart, lung, kidney disease, or bleeding disorders.
  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: NCT00128973

Contacts
Contact: Patricia L Littel, R.N. (301) 402-5964 plittel@cc.nih.gov
Contact: Harry L Malech, M.D. (301) 480-6916 hmalech@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: Harry L Malech, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Publications:
Additional publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
ClinicalTrials.gov Identifier: NCT00128973     History of Changes
Other Study ID Numbers: 050213, 05-I-0213
Study First Received: August 9, 2005
Last Updated: August 20, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
CGD
LAD
XSCID
cGVHD
Infection
Abnormal Immune Function
Recurrent Infection
Chronic Granulomatous Disease
X-Linked Severe Combined Immune Deficiency (XSCID)
Leukocyte Adhesion Deficiency 1
Healthy Volunteer
HV

Additional relevant MeSH terms:
Immune System Diseases

ClinicalTrials.gov processed this record on September 30, 2014