Bone marrow transplantation in a Hunter patient with P266H mutation.

Coppa, Giovanni V.; Gabrielli, Orazio; Cordiali, Rosanna; Villani, Guido; Natale, Paola Di

doi:10.3892/ijmm.4.4.433

Cited by 5 publications

(3 citation statements)

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“…He also raised a question of ethical concerns on the decision-making of HSCT for MPS II with the attenuated phenotype, because of life-threatening risks of HSCT. In contrast, other investigations suggested that selected patients without serious neurological complications could be candidates for HSCT [24,25]. Guffon et al reported that HSCT was effective on eight MPS II patients with a broad clinical range and nonneurological symptoms [26].…”

Section: Discussionmentioning

confidence: 99%

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

et al. 2020

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The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact. This study aims to evaluate the long-term effectiveness of HSCT using the activity of daily living (ADL) scores in patients with MPS II. Sixty-nine severely affected MPS II patients (19 patients who received HSCT and 50 untreated patients) and 40 attenuated affected patients (five with HSCT and 35 untreated) were investigated by a simplified ADL questionnaire. The frequency of clinical findings and the scores of ADL (verbal, gross motor, and the level of care) were analyzed statistically. The mean age of onset of 19 severely affected patients who received HSCT was 1.40 years ± 1.06, which is not statistically different from that of 50 untreated patients (p = 0.11). Macroglossia, frequent airway infection, hepatosplenomegaly, joint contracture, and sleep apnea were less frequent in the HSCT-treated group of severe MPS II patients. The severe phenotype HSCT treated group reported a statistically significant higher score of verbal function and gross motor function between the ages of 10 and 15 years and a higher level of care score between 10 and 20 years. Patients with the attenuated phenotype showed high ADL scores, and all of five HSCT treated patients reported a lower frequency of frequent airway infection, coarse skin, umbilical/inguinal hernia, hepatosplenomegaly, heart valve disorders, and carpal tunnel. In conclusion, HSCT is effective, resulting in improvements in clinical features and ADL in patients with MPS II. HSCT should be re-reviewed as a therapeutic option for MPS II patients.

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Section: Discussionmentioning

confidence: 99%

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

et al. 2020

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“…Hematopoietic stem cell transplantation (HSCT) was the first treatment, applied with success to the most severe form of mucopolysaccharidosis (MPS) type I (Hurler) [3]. It was also employed in smaller numbers of patients with MPS II, III, IV and VI with controversial results [4][5][6][7][8][9][10][11][12][13]. Recent evidence suggests HSCT as an acceptable treatment option for MPS II [12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Parini

Deodato

2020

IJMS

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The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in observational post-approval studies. Post-marketing data are sometimes conflicting or controversial, possibly depending on disease severity, differently involved organs, age at starting treatment, and development of anti-drug antibodies (ADAs). There is general agreement that ERT is effective in reducing urinary glycosaminoglycans and liver and spleen volume, while heart and joints outcomes are variable in different studies. Effectiveness on cardiac valves, trachea and bronchi, hearing and eyes is definitely poor, probably due to limited penetration in the specific tissues. ERT does not cross the blood–brain barrier, with the consequence that the central nervous system is not cured by intravenously injected ERT. All patients develop ADAs but their role in ERT tolerance and effectiveness has not been well defined yet. Lack of reliable biomarkers contributes to the uncertainties about effectiveness. The data obtained from affected siblings strongly indicates the need of neonatal screening for treatable MPSs. Currently, other treatments are under evaluation and will surely help improve the prognosis of MPS patients.

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“…Also in 1999, Coppa et al 23 reported a 4-year follow-up of a patient with the non-neuronopathic form of MPS II submitted to HSCT at 3 years. There was attenuation of facial features, skin was less thick, abdominal ultrasonography showed resolution of hepatosplenomegaly, and he presented only small joint limitation.…”

Section: Resultsmentioning

confidence: 99%

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

Barth¹,

Horovitz²

2018

Journal of Inborn Errors of Metabolism and Screening

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Mucopolysaccharidosis II (MPS II-Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood-brain barrier (BBB), limiting the results in neurological forms of the disease. Another treatment option for MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS I since it can preserve neurocognition when performed early in the course of the disease. Even though the intravenous therapy does not cross the BBB, it has become the recommended treatment for MPS II, and HSCT was not often indicated. In an attempt to understand why this treatment modality is rejected by most specialists as a treatment option for patients with Hunter syndrome, we sought to raise all HSCT cases already reported in the scientific literature. Databases used were Medline/PubMed, Lilacs/BVS Cochrane Library, DARE, SciELO, and SCOPUS. Different combinations of the terms "mucopolysaccharidosis II," "Hunter syndrome," "hematopoietic stem cell transplantation," "bone marrow transplantation," and "umbilical cord blood stem cell transplantation" were used. A total of 780 articles were found. After excluding redundant references and articles not related to the theme, 26 articles were included. A descriptive summary of each article is presented, and the main features are summed up. The clinical experience with HSCT in MPS II is small, and most of the available literature is outdated. The available data reveal poor patient selection criteria, varied conditioning regimens, distinct follow-up parameters, and post-HSCT outcomes of interest, making impossible to compare and generalize the results obtained. Recently, after the development of new conditioning protocols and techniques and the creation of bone marrow donor registries and umbilical cord banks, HSCT has become more secure and accessible. It seems now appropriate to reconsider HSCT as a treatment option for the neuronopathic form of MPS II.

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Bone marrow transplantation in a Hunter patient with P266H mutation.

Cited by 5 publications

References 0 publications

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

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