Evaluation of Patients With Immune Function Abnormalities - Full Text View

Sponsored by:	National Institute of Allergy and Infectious Diseases (NIAID)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00128973

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:

Medical history and physical examination.
Blood and urine tests, including analysis for genes involved in immune disorders.
Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek.
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.
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 ex...

Condition
Immune System Diseases

MedlinePlus related topics: Adhesions

Drug Information available for: BaseLine

U.S. FDA Resources

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

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

Estimated Enrollment:	850
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. 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 will be limited to two visits over one year period. 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:

To determine the degree, scope and cause of immune dysfunction;
To establish the pace and pattern of change in the disease process;
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 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.

Normal Volunteers must:

Be a healthy adult of either sex and between age of 18 and 85 years old.
Have a hemoglobin count of 12.5 and hemocrit of 38%.
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.

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.

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).
Hemoglobin less than 12.5 and hematocrit less than 38%.
Receiving chemotherapeutic agent(s), or have underlying

malignancy.

-Have history of heart, lung, kidney disease, or bleeding disorders

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00128973

Contacts

Contact: Patient Recruitment and Public Liaison Office	(800) 411-1222	prpl@mail.cc.nih.gov
Contact: TTY	1-866-411-1010

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

National Institute of Allergy and Infectious Diseases (NIAID)

More Information

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993 Apr 9;73(1):147-57.

Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS. The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. Hum Mol Genet. 1993 Aug;2(8):1099-104.

Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993 Oct;123(4):564-72.

Study ID Numbers:	050213, 05-I-0213
Study First Received:	August 9, 2005
Last Updated:	July 18, 2008
ClinicalTrials.gov Identifier:	NCT00128973
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

CGD
X-Linked Severe Combined Immune Deficiency (XSCID)
XSCID
Leukocyte Adhesion Deficiency 1
LAD
Healthy Volunteer
HV

Study placed in the following topic categories:

Severe combined immunodeficiency, X-linked
Granulomatous Disease, Chronic
Adhesions
Healthy

Chronic granulomatous disease
Congenital Abnormalities
Recurrence

Additional relevant MeSH terms:

Immune System Diseases

ClinicalTrials.gov processed this record on January 15, 2009