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Trial record 37 of 459 for:    Inherited Bleeding Disorder

Evaluation of Patients With Immune Function Abnormalities

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ClinicalTrials.gov Identifier: NCT00128973
Recruitment Status : Recruiting
First Posted : August 10, 2005
Last Update Posted : October 21, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )

Brief Summary:

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 or disease
Immune System Diseases Chronic Granulomatous Disease (CGD) X-Linked Severe Combined Immune Deficiency (XSCID) Leukocyte Adhesion Deficiency 1 (LAD) Graft Versus Host Disease (cGvHD)

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 2400 participants
Observational Model: Other
Time Perspective: Cross-Sectional
Official Title: Screening and Baseline Assessment of Patients With Abnormalities of Immune Function
Actual Study Start Date : October 19, 2005


Group/Cohort
Healthy Volunteers
Healthy adult M/F l8-85 y/o.Hgb greater than or equal to 11. Wt>110 bs. No heart, lung, kidney, bleeding disorders. No hep BorC since age ll. No IV drug use. No exposure to the AIDS virus. Not pregnant.
Patients
Patients with abnormalities of immune function
Relatives of Patients
Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient.



Primary Outcome Measures :
  1. To characterize the physiologic, biochemical or genetic basis of the abnormality of immunity. [ Time Frame: 11 years ]
    Identification of the pathophysiology and genetic basis of abnormalities of immune function under study

  2. To establish the extent of organ involvement (infection and/or inflammation) and organ damage or dysfunction resulting from the abnormality of immune function. [ Time Frame: 11 years ]
    Identification of severity of disease as it relates to immune function in PID

  3. To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function) during a period of up [ Time Frame: 11 years ]
    Identification pregression and pattern of disease over time to one year baseline assessment.

  4. To determine genetic linkage and biochemical correlates of the patient's abnormality of immunity by study of first and second-degree related family members' blood cells (buccal smears instead of blood for genetic studies in some individuals), se... [ Time Frame: 11 years ]
    Identification of genetic links and biochemical correlates of PIO to clinical manifestations

  5. To assess feasibility of a novel lung MRI technique in patients with primary immunodeficiency by comparing with medically indicated CT exams. This will help determine whether a lung MRI can supplement CT, or eventually replace CT, in certain lun... [ Time Frame: 11 years ]
    Identification of MRI reliability in diagnosing lung abnormalities in PIO patients vs tradition CT scan


Secondary Outcome Measures :
  1. To determine a patient's eligibility for other studies. [ Time Frame: 11 years ]
    Patient recruitment to treatment protocols

  2. To assess the patient's ability to safely tolerate specific aspects of other diagnostic or therapeutic research protocols. [ Time Frame: 11 years ]
    Patients tolerate treatment for PID disease

  3. To establish a baseline assessment of the pace and extent of the disease before entering a therapeutic clinical trial. [ Time Frame: 11 years ]
    Identification of best time with respect to disease process to place pts on a treatment protocol



Information from the National Library of Medicine

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, Learn About Clinical Studies.


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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Self referred, Physician referred
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00128973


Contacts
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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
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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 Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Investigators
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Principal Investigator: Harry L Malech, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID)
ClinicalTrials.gov Identifier: NCT00128973     History of Changes
Other Study ID Numbers: 050213
05-I-0213
First Posted: August 10, 2005    Key Record Dates
Last Update Posted: October 21, 2019
Last Verified: March 22, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):
Inherited Disease
Chronic Granulomatous Disease
CGD
LAD
XSCID
cGVHD
Infection
Genetic
Immunity
Chronic
Abnormal Immune Function
Recurrent Infection
X-Linked Severe Combined Immune Deficiency (XSCID)
Leukocyte Adhesion Deficiency 1
Healthy Volunteer
HV
Additional relevant MeSH terms:
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Granulomatous Disease, Chronic
Graft vs Host Disease
Immune System Diseases
Leukocyte Disorders
Hematologic Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases
Severe Combined Immunodeficiency
Immunologic Deficiency Syndromes
Tissue Adhesions
Cicatrix
Fibrosis
Pathologic Processes
Phagocyte Bactericidal Dysfunction