Interferon Gamma Administration in Leukocyte Adhesion Deficiency Type I
Interferon gamma
Primary Immunodeficiency Diseases+3
+ Immune System Diseases
+ Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Treatment Study
Summary
Study start date: April 1, 1999
Actual date on which the first participant was enrolled.Leukocyte adhesion deficiency type I (LAD I) is a primary immunodeficiency disease resulting from mutations in the gene encoding CD18. Markedly reduced or absent expression of the leukocyte integrin component CD18 causes significant impairment in leukocyte mobilization to inflammatory sites. Clinically, patients have marked leukocytosis and recurrent infections involving soft tissues such as skin, the gastrointestinal tract and gingiva. Death due to infections in early infancy is common with the severe form of LAD I (CD18 expression less than 0.5%), but patients with the moderate phenotype (CD18 expression 1-10%) may survive into young adulthood. To date, therapy consists of antibiotic treatment for infections and bone marrow transplantation when possible. LAD I is also a candidate for future gene therapy. Recently, it has been shown that in vivo administration of interferon gamma (IFN-gamma) upregulates CD18 expression in normals and alters leukocyte trafficking. We hypothesize that modest increases in CD18 expression in LAD I patients with the moderate phenotype or alterations in CD18 independent trafficking could result in detectable clinical changes and possible clinical improvement.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.5 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Treatment Study
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
PARTICIPANT INCLUSION CRITERIA: Leukocyte Adhesion Deficiency type I, as determined by flow cytometry showing less than 10% CD18 expression in association with typical signs of LAD I . Weight adequate to permit the blood drawing requirements of the protocol, greater than 13 kg. Patients should be without serious, ongoing, uncontrolled infections. Adequate hematopoietic, renal and hepatic function, defined as: Absolute neutrophil count greater than or equal to 1500/microL; Hemoglobin greater than or equal to 7g/dL (post transfusion or erythropoeitin); Platelet count greater than or equal to 100,000/microL; Creatinine less than or equal to 1.5 x upper limit of normal; Bilirubin less than or equal to 1.5 x upper limit of normal; AST/SGOT less than or equal to 2.5 x upper limit of normal; ALT/SGPT less than or equal to 2.5 x upper limit of normal; Calculated Creatinine Clearance greater than or equal to 60 mL/min. Karnofsky Performance Status Index greater than or equal to 70. Written signed informed consent. PARTICIPANT EXCLUSION CRITERIA: HIV infection. Active malignancy. Symptomatic cardiac disease or ongoing treatment for same. Pregnant or lactating women. Surgery during the two weeks prior to the start of IFN-gamma dosing. Concurrent use of systemic corticosteroids, except for physiologic replacement. Exposure to any investigational drug within four weeks prior to the start of dosing. Any other major illness which, in the investigator's judgement, may substantially increase the risk associated with the patients participation in this study.
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location
National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda, United StatesOpen National Institute of Allergy and Infectious Diseases (NIAID) in Google Maps