Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation

“…Mutation type was significantly and independently associated with both cognitive ability and adaptive skills, with those who had a known severe genotype scoring much lower on average than those with a known other mutation. Unlike prior reports (Aldenhoven et al 2015;Peters et al 1996;Guffon et al 2009;Vellodi et al 1997), age at transplant was not significantly associated with either IQ or adaptive functioning in this cohort. This may be due to restricted range of age at transplant as the majority of the Note: HCT hematopoietic cell transplant, GVHD graft versus host disease, SES socioeconomic status (Hollingshead 2-factor), IQ intelligence quotient (from age-appropriate cognitive test), CHQ child health questionnaire, PHS physical summary scale, PSS psychosocial summary scale sample was transplanted at less than 2 years old, consistent with the modern standard of care.…”

Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study

“…HSCT has the potential advantage that transplanted cells are able to cross the blood-brain barrier and to differentiate into microglia providing an IDS enzyme source in the CNS. Unfortunately, the results of BMT/ HSCT in MPS II have been variable (Vellodi et al 1999;Krivit 2004;Guffon et al 2009;Scarpa et al 2011;Tanaka et al 2012). As reported for ERT, positive effects included resolution of hepatosplenomegaly and stabilization of cardiac abnormalities, but neurological function in patients with the severe disease phenotype did not improve (Guffon et al 2009).…”

Eficácia e segurança da terapia com idursulfase em pacientes com mucopolissacaridose tipo II, com e sem comparação com placebo: revisão sistemática e metanálise

“…A principal vantagem dessa estratégia em relação à TRE seria o potencial efeito sobre a doença neurológica, haja vista que a IDS provavelmente não ultrapassa a barreira hematoencefálica; todavia, na literatura, são escassos os relatos prospectivos sobre TCTH na MPS II. O maior deles avaliou desfechos relevantes e incluiu nove pacientes com idade entre 3 e 16 anos 32 . No período de observação (7 a 17 anos), as anormalidades cardiovasculares se estabilizaram, a hepatoesplenomegalia se resolveu, os defeitos de transmissão auditiva e a rigidez articular melhoraram e os desfechos neuropsicoló-gicos foram variáveis.…”

“…No período de observação (7 a 17 anos), as anormalidades cardiovasculares se estabilizaram, a hepatoesplenomegalia se resolveu, os defeitos de transmissão auditiva e a rigidez articular melhoraram e os desfechos neuropsicoló-gicos foram variáveis. Assim, o TCTH parece ter alguns resultados favoráveis, mas ainda não está claro o efeito do tratamento na progressão de desfechos neurológicos 32 .…”