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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 (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
ClinicalTrials.gov Identifier:
NCT00128973
First received: August 9, 2005
Last updated: November 13, 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
  Show Detailed Description

  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.

Healthy 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.

Patient Participants in the FDG PET-CT and/or FDG PET-CT/MR-PET Scan Study Must:

- Already be enrolled and eligible to participate on protocol #05-I-0213 Screening and Baseline Assessment of Patients with

Abnormalities of Immune Function

- Be at least 8 years old

Must have clinical evidence for significant life-threatening infection that would be a standard of care medical indication for diagnostic CT scan where the FDG PET-CT/MR-PET scan would be performed in lieu of that indicated diagnostic CT; or have had a CT or MRI that did not adequately indicate the anatomic extent, location(s) or intensity of the infection

  • Must be capable of overnight fasting and stopping of any intravenous glucose or other intravenous nutritional feeding for at least 12 hours before the FDG injection and through the period of time required for the FDG PET-CT/MR-PET scans, because glucose and insulin significantly inhibits uptake of FDG.
  • Must be psychologically capable of remaining in the confined space of the PET-CT and MR-PET instruments. Patient will remain eligible for FDG PET-CT alone if the subject cannot tolerate the confines of the MR-PET instrument.

Patient Participants in Lung MRI as a CT supplement in Infection Surveillance Sub Study Must:

  • Have a primary immune deficiency and be enrolled under 05-I-0213.
  • Be willing to sign a supplemental consent to undergo lung MRI.
  • Be greater or equal to 12 years of age
  • Need a medically indicated chest CT
  • Be psychologically/physically capable of remaining in the confined space of the MRI machine for at least 30 minutes.
  • Be able to lay flat.
  • Be capable of following breath-holding instructions.

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.

Patient Participants in the FDG PET-CT and/or FDG PET-CT/MRPET Scan Study Must Not:

  • Have cancer or have had radiation or chemotherapy to treat a cancer in the past 5 years.
  • Have diabetes or abnormal glucose tolerance.
  • Weigh more than 299lbs (or 136kg) or cannot fit in the bore of the instruments.
  • Are a women of childbearing potential, you must have a negative urine or blood pregnancy test within 1days prior to having the FDG

PET-CT/MR-PET scans.

- If you have aneurysm clips, metal fragments in the eye, certain types of metal implants or prostheses, a pacemaker or other permanently attached electronic devices that are not marked MRI compatible you may not be able to participate in the MR-PET portion of the study

Patient Participants in Lung MRI as a CT supplement in Infection Surveillance Sub Study Must Not:

  • Be less than 12 years of age
  • Have claustrophobia or require sedation to undergo an MRI.
  • Have an implanted metal object in the body (i.e. aneurysm clips, metal fragments in the eye) that is contraindicated for MRI.
  • Be pregnant.
  • Have a body habitus greater than MRI gantry size/weight limit.
  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):
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
ClinicalTrials.gov Identifier: NCT00128973     History of Changes
Other Study ID Numbers: 050213, 05-I-0213
Study First Received: August 9, 2005
Last Updated: November 13, 2014
Health Authority: United States: Federal Government

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

Additional relevant MeSH terms:
Immune System Diseases

ClinicalTrials.gov processed this record on November 20, 2014