Early treatment is associated with improved cognition in <scp>H</scp>urler syndrome

Poe, Michele D.; Chagnon, Sarah L.; Escolar, Maria L.

doi:10.1002/ana.24246

Cited by 98 publications

(108 citation statements)

References 37 publications

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“…Several factors were associated with a better prognosis after HSCT: gross motor function preserved, IQ of at least 85, and age at onset older than four years. Mean (range) *Disease duration = the difference between age at onset of cerebral signs and age at HSCT (see Table 2 Early transplantation has been related to optimal long-term cognitive and language outcomes in MPS-IH 9,14 . Although our MPS-IH survivor (patient MPS-IH-10) was a late transplanted patient, her follow-up four years later was very encouraging.…”

Section: Discussionmentioning

confidence: 99%

“…Studies in fibroblasts from MPS-I patients with different phenotypes and different genetic backgrounds confirmed that tiny differences in residual enzyme activity are related to important clinical differences 33 . Several studies on HSCT in MPS-IH reported improvements in cardiopulmonary function, hearing and vision, and preservation of neurocognitive function 9,14,34 . Some of them documented that subsequent cognitive deterioration might occur after HSCT, mostly if it is performed late 35 .…”

Section: Discussionmentioning

confidence: 99%

“…There is consensus about the efficacy of HSCT when performed early in life for MPS-IH 9,13,14 and at early stages in CALD 6,7,12,15 . Case reports suggested that HSCT might reduce demyelination in juvenile (onset between two and 14 years) and adult forms of MLD when performed as early as possible 3,4,5,16 .…”

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confidence: 99%

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Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

Saute

Souza

Poswar

et al. 2016

Arq. Neuro-Psiquiatr.

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Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). 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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

Saute

Souza

Poswar

et al. 2016

Arq. Neuro-Psiquiatr.

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“…We have also demonstrated benefits for Hurler syndrome, with transplantation before 9 months of age associated with improvements in cognitive function, receptive and expressive language, and adaptive behavior (Poe et al 2014). Early treatment may have similar effects for some of the somatic manifestations of Hurler syndrome, but whether orthopedic complications can be prevented remains to be elucidated.…”

Section: Discussionmentioning

confidence: 81%

Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

et al. 2014

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Objectives: Hurler syndrome is characterized by progressive multisystem deterioration leading to early death in childhood. This prospective study evaluated the longterm outcomes of patients with Hurler syndrome who underwent umbilical cord blood transplantation from unrelated donors.Study design: Only patients with Hurler syndrome who underwent umbilical cord blood transplantation between December 1995 and March 2006 (n ¼ 25) and who were followed for at least 5 years (n ¼ 19) were included in the analysis. The patients were longitudinally evaluated by a multidisciplinary team of specialists following a standardized protocol.Results: Median age at transplantation was 15.9 months (range 2.1-35), and patients were followed up until a median age of 10

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“…In general, multi‐systemic and progressive signs and symptoms should raise suspicion of a genetic disorder, including a lysosomal storage disorder such as MPS I 8. The benefits of early treatment with haematopoietic stem cell transplantation (HSCT) in patients with severe MPS I include substantial changes in the disease course along with improved cognition 9, 10, 11. Early treatment of patients with MPS I can also slow disease progression and improve patient outcomes, including quality of life 12.…”

Section: Introductionmentioning

confidence: 99%

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Tylki‐Szymańska

Meırleır²,

Rocco

et al. 2018

Acta Paediatrica

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AimThe aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I).MethodsAn international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases and inherited metabolic diseases. They reviewed real‐world clinical cases, selected key signs or symptoms based on their prevalence and specificity and reached consensus about the algorithm. The algorithm was retrospectively tested.ResultsAn algorithm was developed. In patients under two years of age, kyphosis or gibbus deformity were the key symptoms that raised clinical suspicion of MPS I and in those over two years they were kyphosis or gibbus deformity, or joint stiffness or contractures without inflammation. The algorithm was tested on 35 cases, comprising 16 Hurler, 10 Hurler–Scheie, and nine Scheie patients. Of these 35 cases, 32 (91%) – 16 Hurler, nine Hurler–Scheie and seven Scheie patients – would have been referred earlier if the algorithm had been used.ConclusionThe expert panel developed and tested an algorithm that helps raise clinical suspicion of MPS I and would lead to a more prompt final diagnosis and allow earlier treatment.

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Early treatment is associated with improved cognition in Hurler syndrome

Cited by 98 publications

References 37 publications

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome

Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

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