Jonas Alex Morales Saute1,2,3, Carolina Fischinger Moura de Souza1, Fabiano de Oliveira Poswar4, Karina Carvalho Donis1,5, Lillian Gonçalves Campos6,3, Adriana Vanessa Santini Deyl7, Maira Graeff Burin1, Carmen Regla Vargas1,8, Ursula da Silveira Matte4,9,10, Roberto Giugliani1,5,3,4,9,10, Maria Luiza Saraiva-Pereira1,2,4,11, Leonardo Modesti Vedolin6,3, Lauro José Gregianin7,12, Laura Bannach Jardim1,2,5,3,4,13. 1. Hospital de Clínicas de Porto Alegre, Serviço de Genética Médica, Porto Alegre RS, Brasil. 2. Hospital de Clínicas de Porto Alegre, Laboratório de Identificação Genética, Porto Alegre RS, Brasil. 3. Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Ciências Médicas, Porto Alegre RS, Brasil. 4. Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular; Porto Alegre RS, Brasil. 5. Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Saúde da Criança e do Adolescente, Porto Alegre RS, Brasil. 6. Hospital de Clínicas de Porto Alegre, Serviço de Radiologia, Porto Alegre RS, Brasil. 7. Hospital de Clínicas de Porto Alegre, Serviço de Oncologia Pediátrica, Porto Alegre, Brasil. 8. Universidade Federal do Rio Grande do Sul, Faculdade de Farmacia, Porto Alegre, Brasil. 9. Hospital de Clínicas de Porto Alegre, Laboratório de Terapia Gênica, Porto Alegre RS, Brasil. 10. Universidade Federal do Rio Grande do Sul, Departamento de Genética e Biologia Molecular, Porto Alegre RS, Brasil. 11. Universidade Federal do Rio Grande do Sul, Departamento de Bioquímica, Porto Alegre RS, Brasil. 12. Universidade Federal do Rio Grande do Sul, Departamento de Pediatria, Porto Alegre RS, Brasil. 13. Universidade Federal do Rio Grande do Sul, Departamento de Medicina Interna, Porto Alegre RS, Brasil.
Abstract
OBJECTIVE: To describe survival and neurological outcomes after HSCT for these disorders. METHODS: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. RESULTS: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. CONCLUSION: Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.
OBJECTIVE: To describe survival and neurological outcomes after HSCT for these disorders. METHODS: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. RESULTS: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. CONCLUSION: Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.
Authors: Florian Eichler; Christine Duncan; Patricia L Musolino; Paul J Orchard; Satiro De Oliveira; Adrian J Thrasher; Myriam Armant; Colleen Dansereau; Troy C Lund; Weston P Miller; Gerald V Raymond; Raman Sankar; Ami J Shah; Caroline Sevin; H Bobby Gaspar; Paul Gissen; Hernan Amartino; Drago Bratkovic; Nicholas J C Smith; Asif M Paker; Esther Shamir; Tara O'Meara; David Davidson; Patrick Aubourg; David A Williams Journal: N Engl J Med Date: 2017-10-04 Impact factor: 91.245