Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

Pineda, Mercédes; O’Callaghan, Mar; López, Arturo Bados; Coll, María Josep; Ullot, Rossend; García-Fructuoso, Gemma

doi:10.1007/8904_2016_530

Cited by 3 publications

(2 citation statements)

References 23 publications

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“…The first effective therapy for these severe and progressive disease was reported in 1980, when BMT was performed on an MPS I patient [28]. The first specific therapy approved for MPS was intravenous ERT for MPS I, followed by MPS VI [29], MPS II, and, recently MPS IVA [1]. BMT can prevent cognitive decline, improve upper airway disease, reduce hepatosplenomegaly, and improve mobility in severe form of MPS I before the age of 2.5 years; however, the cornea is not cleared, cardiac valve disease persists and skeletal changes progress.…”

Section: Discussionmentioning

confidence: 99%

Real Time Ultrasound Elastography in Musculoskeletal Manifestations of Mucopolysaccharidosis

Marti¹

2019

OROAJ

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Background: Mucopolysaccharidosis (MPSs) are a group of metabolic disorders caused by several different enzyme deficiencies that cause multi-systemic affection. Aim:The aim of this study was to assess the capability of ultrasound elastography (SE) in evaluating the tendons stiffness in patients with diagnosis of MPSs correlating with clinical and physical examination. Method:We evaluated 15 patients affected of MPS during a year and a half (6 men and 9 women, median age of 10 years, range 3-39). General data such as the type of mucopolysaccharidosis, the enzymatic deficiency, storage product, genetic defect, treatments and general symptoms were recorded. Exhaustive orthopedic examination has been performed and orthopedic surgeries have been recorded. The functional exercise capacities were evaluated with the Six-Minute Walk Test. For Sanfilippo disease we used a disability scale that measures ambulation, behavior, speech, swallowing, and epilepsy with a score in each category. One paediatric radiologist with specific training in musculoskeletal disorders performed the ultrasound elastography examinations in all subjects. Results:We have found echographic alterations in different locations of patients with mucopolysaccharidosis that correspond to what is found in the elastography. Conclusion:The results of this work are promising as to the usefulness of elastography in the assessment of tissue stiffness in deposit diseases such as MPSs. Their greater sensitivity to detect deposits may be useful for us to evaluate the enzymatic treatments, the BMT or the surgical treatments that we perform to these patients. Level III of evidence

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Section: Discussionmentioning

confidence: 99%

Real Time Ultrasound Elastography in Musculoskeletal Manifestations of Mucopolysaccharidosis

Marti¹

2019

OROAJ

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“…MPS VI therapy involves symptomatic treatment as well as hematopoietic stem cell transplantation and/or enzyme replacement with the human recombinant ARSB Galsulfase 3 . The earlier the treatment is initiated, a better clinical outcome is expected for the patient [4][5][6][7][8][9] . Together with other low incidence Inborn Errors of Metabolism (IEM), LSD are currently recognized as Rare Diseases specific residues linked to β-MU, that render the β-MU fluorescent product when the substrate is cleaved by the enzyme.…”

Section: Introductionmentioning

confidence: 99%

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI.

Franco¹,

Adamo²,

Mathieu³

et al. 2017

J Rare Dis Res Treat

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Lysosomal Storage Disorders (LSD) are rare diseases that as a whole have a combined incidence ranging from 1:1500 to 1:7000 live births. One of such diseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome. MPS VI patients undergo devastating and irreversible skeletal alterations and multisystemic failure as from early childhood due to reduced Arylsulfatse B (ARSB) enzyme activity.Reaching a final diagnosis is not always a short cut path, but rather a yearslong battle against uncertainty and unnecessary medical interventions. Our aim is to contribute from the bench table with different approaches that could serve as alternatives to pre-existing assays for screening and diagnosing MPS VI and other LSD.

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Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice

Jiang

Derrick-Roberts

Jackson

et al. 2018

Molecular Genetics and Metabolism

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Short stature is a characteristic feature of most of the mucopolysaccharidoses, a group of inherited lysosomal storage disorders caused by a single enzyme deficiency. MPS patients present with progressive skeletal defects from an early age, including short stature due to impaired cartilage-to-bone conversion (endochondral ossification). The aim of this study was to determine which murine MPS model best reproduces the bone length reduction phenotype of human MPS and use this model to determine the earliest developmental stage when disrupted endochondral ossification first appears. Gus mice representing severe MPS VII displayed the greatest reduction in bone elongation and were chosen for histopathological analysis. Tibial development was assessed from E12.5 to 6 months of age. Chondrocytes in the region of the future primary ossification center became hypertrophic at a similar age to normal in the MPS VII mouse fetus, but a delay in bone deposition was observed with an approximate 1 day delay in the formation of the primary ossification centre. Likewise, chondrocytes in the region of the future secondary ossification center also became hypertrophic at the same age as normal in the MPS VII early postnatal mouse. Bone deposition in the secondary ossification centre was delayed by two days in the MPS VII proximal tibia (observed at postnatal day 14 (P14) compared to P12 in normal). The thickness of the tibial growth plate was larger in MPS VII mice from P9 onwards. Abnormal endochondral ossification starts in utero in MPS VII and worsens with age. It is characterized by a normal timeframe for chondrocyte hypertrophy but a delay in the subsequent deposition of bone in both the primary and secondary ossification centres, accompanied by an increase in growth plate thickness. This suggests that the signals for vascular invasion and bone deposition, some of which are derived from hypertrophic chondrocytes, are altered in MPS VII.

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Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

Cited by 3 publications

References 23 publications

Real Time Ultrasound Elastography in Musculoskeletal Manifestations of Mucopolysaccharidosis

Real Time Ultrasound Elastography in Musculoskeletal Manifestations of Mucopolysaccharidosis

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI.

Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII mice

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