Interferon Gamma Administration in Leukocyte Adhesion Deficiency Type I
Interferon gamma
Enfermedades de inmunodeficiencia primaria+1
+ Enfermedades del sistema inmunitario
+ Enfermedades y Anomalías Congénitas, Hereditarias y Neonatales
Estudio de Tratamiento
Resumen
Fecha de inicio: 1 de abril de 1999
Fecha en la que se inscribió al primer participante.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.
Protocolo
Esta sección proporciona detalles del plan del estudio, incluyendo cómo está diseñado y qué se está evaluando.Se reclutarán 5 pacientes
Número total de participantes que el ensayo clínico espera reclutar.Estudio de Tratamiento
Elegibilidad
Los investigadores buscan pacientes que cumplan ciertos criterios, conocidos como criterios de elegibilidad: estado general de salud o tratamientos previos.Cualquier sexo
Sexo biológico de los participantes elegibles para inscribirse.Voluntarios sanos no permitidos
Indica si personas sanas, sin la condición que se estudia, pueden participar.Condiciones
Patología
Criterios
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.
Centros del Estudio
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National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda, United StatesAbrir National Institute of Allergy and Infectious Diseases (NIAID) en Google Maps