Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.

Autor: Cuvelier GDE; Manitoba Blood and Marrow Transplant Program, CancerCare Manitoba, University of Manitoba, Winnipeg, MB, Canada., Logan BR; Division of Biostatistics, Medical College of Wisconsin, Milwaukee, WI., Prockop SE; Stem Cell Transplant Service, Dana Farber Cancer Institute/Boston Children's Hospital, Boston, MA., Buckley RH; Duke University Medical Center, Durham, NC., Kuo CY; Division of Allergy, Immunology, Rheumatology, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA., Griffith LM; Division of Allergy, Immunology and Transplantation, National Institutes of Allergy, National Institutes of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD., Liu X; Division of Biostatistics, Medical College of Wisconsin, Milwaukee, WI., Yip A; University of California San Francisco Benioff Children's Hospital, San Francisco, CA., Hershfield MS; Duke University Medical Center, Durham, NC., Ayoub PG; Microbiology, Immunology & Molecular Genetics, University of California, Los Angeles, CA., Moore TB; Department of Pediatric Hematology-Oncology, Mattel Children's Hospital, University of California, Los Angeles, CA., Dorsey MJ; University of California San Francisco Benioff Children's Hospital, San Francisco, CA., O'Reilly RJ; Stem Cell Transplantation and Cellular Therapy, MSK Kids, Memorial Sloan-Kettering Cancer Center, New York, NY., Kapoor N; Division of Hematology, Oncology and Blood and Marrow Transplant, Children's Hospital, Los Angeles, CA., Pai SY; Immune Deficiency Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, Bethesda, MD., Kapadia M; Boston Children's Hospital, Dana-Farber Cancer Institute, Boston, MA., Ebens CL; Division of Pediatric Blood and Marrow Transplant and Cellular Therapy, MHealth Fairview Masonic Children's Hospital, Minneapolis, MN., Forbes Satter LR; Immunology, Allergy and Retrovirology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX., Burroughs LM; Fred Hutchinson Cancer Research Center, University of Washington, Department of Pediatrics and Seattle Children's Hospital, Seattle, WA., Petrovic A; Fred Hutchinson Cancer Research Center, University of Washington, Department of Pediatrics and Seattle Children's Hospital, Seattle, WA., Chellapandian D; Center for Cell and Gene Therapy for Non-Malignant Conditions, Johns Hopkins All Children's Hospital, St Petersburg, FL., Heimall J; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA., Shyr DC; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Lucile Packard Children's Hospital, Stanford School of Medicine, Palo Alto, CA., Rayes A; Primary Children's Hospital, University of Utah, Salt Lake City, UT., Bednarski JJ; Washington University, St. Louis Children's Hospital, St. Louis, MO., Chandra S; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Chandrakasan S; Bone Marrow Transplantation and Immune Deficiency, Children's Hospital of Atlanta, Atlanta, GA., Gillio AP; Children's Cancer Institute, Hackensack University Medical Center, Hackensack, NJ., Madden L; Methodist Children's Hospital of South Texas, San Antonio, TX., Quigg TC; Pediatric Blood and Marrow Transplant and Cellular Therapy Program, Helen DeVos Children's Hospital, Michigan State University College of Human Medicine, Grand Rapids, MI., Caywood EH; Nemours Children's Health, Thomas Jefferson University, Wilmington, DE., Dávila Saldaña BJ; Division of Blood and Marrow Transplantation, Children's National Hospital, Washington, DC., DeSantes K; Division of Pediatric Hematology-Oncology & Bone Marrow Transplant, University of Wisconsin, American Family Children's Hospital, Madison, WI., Eissa H; Division of Pediatric Hematology-Oncology-BMT, Aurora, CO., Goldman FD; Division of Pediatric Hematology and Oncology and Bone Marrow Transplant, University of Alabama at Birmingham, Birmingham, AL., Rozmus J; British Columbia Children's Hospital, Vancouver, BC, Canada., Shah AJ; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Lucile Packard Children's Hospital, Stanford School of Medicine, Palo Alto, CA., Vander Lugt MT; Blood and Marrow Transplant Program, University of Michigan, Ann Arbor, MI., Thakar MS; Fred Hutchinson Cancer Research Center, University of Washington, Department of Pediatrics and Seattle Children's Hospital, Seattle, WA., Parrott RE; Duke University Medical Center, Durham, NC., Martinez C; Hematology/Oncology/BMT, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Leiding JW; Division of Allergy and Immunology, Johns Hopkins University, St Petersburg, FL., Torgerson TR; Allen Institute for Immunology, Seattle, WA., Pulsipher MA; Division of Pediatric Hematology and Oncology, Intermountain Primary Children's Hospital, Huntsman Cancer Institute at the University of Utah Spencer Fox Eccles School of Medicine, Salt Lake City, UT., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD; and., Cowan MJ; University of California San Francisco Benioff Children's Hospital, San Francisco, CA., Dvorak CC; University of California San Francisco Benioff Children's Hospital, San Francisco, CA., Haddad E; Department of Pediatrics, Centre Hospitalier Universitaire (CHU) Sainte-Justine, University of Montreal, Montreal, QC, Canada., Puck JM; University of California San Francisco Benioff Children's Hospital, San Francisco, CA., Kohn DB; Microbiology, Immunology & Molecular Genetics, University of California, Los Angeles, CA.
Jazyk: angličtina
Zdroj: Blood [Blood] 2022 Aug 18; Vol. 140 (7), pp. 685-705.
DOI: 10.1182/blood.2022016196
Abstrakt: Adenosine deaminase (ADA) deficiency causes ∼13% of cases of severe combined immune deficiency (SCID). Treatments include enzyme replacement therapy (ERT), hematopoietic cell transplant (HCT), and gene therapy (GT). We evaluated 131 patients with ADA-SCID diagnosed between 1982 and 2017 who were enrolled in the Primary Immune Deficiency Treatment Consortium SCID studies. Baseline clinical, immunologic, genetic characteristics, and treatment outcomes were analyzed. First definitive cellular therapy (FDCT) included 56 receiving HCT without preceding ERT (HCT); 31 HCT preceded by ERT (ERT-HCT); and 33 GT preceded by ERT (ERT-GT). Five-year event-free survival (EFS, alive, no need for further ERT or cellular therapy) was 49.5% (HCT), 73% (ERT-HCT), and 75.3% (ERT-GT; P < .01). Overall survival (OS) at 5 years after FDCT was 72.5% (HCT), 79.6% (ERT-HCT), and 100% (ERT-GT; P = .01). Five-year OS was superior for patients undergoing HCT at <3.5 months of age (91.6% vs 68% if ≥3.5 months, P = .02). Active infection at the time of HCT (regardless of ERT) decreased 5-year EFS (33.1% vs 68.2%, P < .01) and OS (64.7% vs 82.3%, P = .02). Five-year EFS (90.5%) and OS (100%) were best for matched sibling and matched family donors (MSD/MFD). For patients treated after the year 2000 and without active infection at the time of FDCT, no difference in 5-year EFS or OS was found between HCT using a variety of transplant approaches and ERT-GT. This suggests alternative donor HCT may be considered when MSD/MFD HCT and GT are not available, particularly when newborn screening identifies patients with ADA-SCID soon after birth and before the onset of infections. This trial was registered at www.clinicaltrials.gov as #NCT01186913 and #NCT01346150.
Databáze: MEDLINE