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Morquio syndrome

Christian Pizarro, Ryan R Davies, Mary Theroux, Ellen A Spurrier, Lauren W Averill, Shunji Tomatsu
Progressive tracheal obstruction is commonly seen in Morquio A syndrome and can lead to life-threatening complications. Although tracheostomy can address severe upper airway obstruction, lower airway obstruction, commonly associated with a narrow thoracic inlet and vascular compression, requires an alternative approach. We describe the case of a 16-year-old patient with Morquio A syndrome whose near-fatal tracheal obstruction was relieved by timely surgical tracheal vascular reconstruction with dramatic resolution of his respiratory symptoms...
October 2016: Annals of Thoracic Surgery
Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, Christina Lampe, Jörg Reinke, Eugen Mengel, Julia B Hennermann, Christiane M Wiethoff
BACKGROUND: Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions. It is well known that patients with MPS IVA suffer from tachycardia, but cardiac and hemodynamic alterations have not been reported to date. We investigated the cardiovascular and hemodynamic alterations in patients with MPS IVA and developed a possible patho-mechanism for cardiovascular deterioration during anesthesia...
2016: PloS One
Christian J Hendriksz, Kenneth I Berger, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, John J Mitchell, Barbara K Burton, Norberto Guelbert, Fiona Stewart, Derralynn A Hughes, Robert Matousek, Elaina Jurecki, Celeste Decker, Paul R Harmatz
OBJECTIVE: To present long-term respiratory function outcomes from an open-label, multi-center, phase 3 extension study (MOR-005) of elosulfase alfa enzyme replacement therapy (ERT) in patients with Morquio A syndrome. METHODS: In part 1 of MOR-005, patients initially randomized to ERT in the 24-week pivotal study (MOR-004) remained on their regimen (2.0 mg/kg/week or every other week); placebo patients were re-randomized to one of the two regimens. During part 2, all patients received elosulfase alfa 2...
November 2016: Journal of Inherited Metabolic Disease
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The 4th meeting on rare diseases in South Eastern Europe (SEE) was held in Skopje, at the Macedonian Academy of Sciences and Arts (MASA) on the 14(th) of November 2015. The focuses were metabolic, rare brain diseases as well as the rare dysmorphic syndrome. The authors of the report are particularly keen on stating that one of the main goals of the meeting, namely to help the treatment of patients with rare disease has begun to bear fruits. The talk on an iminosugar-based pharmacological chaperone compound as a drug candidate for the treatment of GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B) was enlightening...
2015: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, Martha L Solano Villarreal, John J Mitchell, Barbara K Burton, Norberto Guelbert, Fiona Stewart, Derralynn A Hughes, Kenneth I Berger, Peter Slasor, Robert Matousek, Elaina Jurecki, Adam J Shaywitz, Paul R Harmatz
Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from pre-treatment baseline) in an open-label, multi-center, phase III extension study. During this extension of a 24-week placebo-controlled phase III study, all patients initially received 2.0mg/kg elosulfase alfa either weekly or every other week, prior to establishment of 2.0mg/kg/week as the recommended dose, at which point all patients received weekly treatment...
September 2016: Molecular Genetics and Metabolism
Ali Al Kaissi, Vladimir Kenis, Eugeniy Melchenko, Maher Ben Ghachem, Robert Csepan, Franz Grill, Rudolf Ganger
BACKGROUND: Thoracolumbar kyphosis has been considered as the first presenting deformity and is often a key diagnostic clue noted in children with mucopolysaccharidosis (MPS) type IV (Morquio's syndrome). However, we observed that the progressive irregularities of the epiphyses of the long bones were the most prominent skeletal pathology, causing effectively the development of diverse forms of lower limbs deformities with extreme variation in age of onset. MATERIALS AND METHODS: Ten patients (seven children and three adults) with an average age of 15 years have been enrolled in this study...
April 2016: African Journal of Paediatric Surgery: AJPS
Eriko Yasuda, Yasuyuki Suzuki, Tsutomu Shimada, Kazuki Sawamoto, William G Mackenzie, Mary C Theroux, Christian Pizarro, Li Xie, Freeman Miller, Tariq Rahman, Heidi H Kecskemethy, Kyoko Nagao, Thierry Morlet, Thomas H Shaffer, Yasutsugu Chinen, Hiromasa Yabe, Akemi Tanaka, Haruo Shintaku, Kenji E Orii, Koji O Orii, Robert W Mason, Adriana M Montaño, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three domains: "Movement," "Movement with cognition," and "Cognition." Each domain has four subcategories rated on a 5-point scale based on the level of assistance. The questionnaire was collected from 145 healthy controls and 82 patients with MPS IVA...
June 2016: Molecular Genetics and Metabolism
Shunji Tomatsu, Kazuki Sawamoto, Tsutomu Shimada, Michael B Bober, Francyne Kubaski, Eriko Yasuda, Robert W Mason, Shaukat Khan, Carlos J Alméciga-Díaz, Luis A Barrera, William G Mackenzie, Tadao Orii
INTRODUCTION: Following a Phase III, randomized, double-blind, placebo (PBO)-controlled, multinational study in subjects with mucopolysaccharidosis IVA (MPS IVA), enzyme replacement therapy (ERT) of elosulfase alfa has been approved in several countries. The study was designed to evaluate safety and efficacy of elosulfase alfa in patients with MPS IVA aged 5 years and older. AREAS COVERED: Outcomes of clinical trials for MPS IVA have been described. Subjects received either 2...
November 1, 2015: Expert Opinion on Orphan Drugs
Lorne A Clarke, Paul Harmatz, Edward W Fong
Morquio A Syndrome (mucopolysaccharidosis IVA [MPS IVA]) is an inherited, autosomal recessive lysosomal storage disorder that occurs in ~1 in 200,000 to 300,000 live births.(1) (Online access Individuals with Morquio A Syndrome have mutations in the gene that encodes N-acetylgalactosamine-6-sulfate sulfatase (GALNS), an enzyme responsible for the metabolism of the glycosaminoglycans (GAGs) keratin sulfate and chondroitin-6-sulfate.(2-4) Reduced activity or lack of GALNS leads to cellular and tissue accumulation of these GAGs to result in progressive, multisystem dysfunction and impaired functional capacity...
February 2016: Molecular Genetics and Metabolism
S B Roberts, R Dryden, A I Tsirikos
AIMS: Clinical and radiological data were reviewed for all patients with mucopolysaccharidoses (MPS) with thoracolumbar kyphosis managed non-operatively or operatively in our institution. METHODS: In all 16 patients were included (eight female: eight male; 50% male), of whom nine had Hurler, five Morquio and two Hunter syndrome. Six patients were treated non-operatively (mean age at presentation of 6.3 years; 0.4 to 12.9); mean kyphotic progression +1.5(o)/year; mean follow-up of 3...
February 2016: Bone & Joint Journal
Heidi H Kecskemethy, Francyne Kubaski, H T Harcke, Shunji Tomatsu
Mucopolysaccharidosis IV A (MPS IV A), Morquio A, is caused by deficiency in lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which is responsible for the catabolism of the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin 6-sulfate (C6S). Accumulation of GAGs results in disrupted cartilage formation and skeletal dysplasia. In this prospective cross-sectional study, bone mineral density (BMD) of the whole body (WB), lumbar spine (LS), and lateral distal femur (LDF) was acquired by dual-energy X-ray absorptiometry (DXA) on patients with MPS IV A...
February 2016: Molecular Genetics and Metabolism
Jorge Luis Suarez-Guerrero, Pedro José Iván Gómez Higuera, Juan Sebastian Arias Flórez, Gustavo Adolfo Contreras-García
The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at lysosomal level. When there is a deficiency of a particular enzyme there is an accumulation of GAGs in the cells resulting in progressive cellular damage, which can affect multiple organ systems and lead to organ failure. Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination...
July 2016: Revista Chilena de Pediatría
Simon B Roberts, Athanasios I Tsirikos
Surgical correction for kyphoscoliosis is increasingly being performed for patients with mucopolysaccharidosis (MPS). Reported case series have predominantly included patients with Type I (Hurler) and Type IV (Morquio) MPS. To their knowledge, the authors describe the first case report of surgical management of thoracolumbar kyphoscoliosis in Hunter syndrome (MPS Type II) and the rare occurrence of lumbar spondylolisthesis following surgical stabilization. A 12-year-old boy with Hunter syndrome presented with severe thoracolumbar kyphoscoliosis and no associated symptoms...
March 2016: Journal of Neurosurgery. Spine
Hiromasa Yabe, Akemi Tanaka, Yasutsugu Chinen, Shunichi Kato, Kazuki Sawamoto, Eriko Yasuda, Haruo Shintaku, Yasuyuki Suzuki, Tadao Orii, Shunji Tomatsu
Morquio A syndrome features systemic skeletal dysplasia. To date, there has been no curative therapy for this skeletal dysplasia. No systemic report on a long-term effect of hematopoietic stem cell transplantation (HSCT) for Morquio A has been described. We conducted HSCT for 4 cases with Morquio A (age at HSCT: 4-15years, mean 10.5years) and followed them at least 10years (range 11-28years; mean 19years). Current age ranged between 25 and 36years of age (mean 29.5years). All cases had a successful full engraftment of allogeneic bone marrow transplantation without serious GVHD...
February 2016: Molecular Genetics and Metabolism
Shunji Tomatsu, Lauren W Averill, Kazuki Sawamoto, William G Mackenzie, Michael B Bober, Christian Pizarro, Christopher J Goff, Li Xie, Tadao Orii, Mary Theroux
Patients with severe tracheal obstruction in Morquio A syndrome are at risk of dying of sleep apnea and related complications. Tracheal obstruction also leads to life-threatening complications during anesthesia as a result of the difficulty in managing the upper airway due to factors inherent to the Morquio A syndrome, compounded by the difficulty in intubating the trachea. A detailed description of the obstructive pathology of the trachea is not available in the literature probably due to lack of a homogenous group of Morquio A patients to study at any one particular center...
February 2016: Molecular Genetics and Metabolism
C Delgado, C Kent, M Sedensky, C Ciliberto, R Landau
Morquio syndrome, a congenital mucopolysaccharidosis, presents several challenges for the provision of effective labor analgesia. We report the case of a woman admitted for induction of labor who received an early epidural and subsequently required cesarean delivery. Optimal bilateral labor analgesia was not achieved despite multiple adjustments, and systemic analgesia was needed for cesarean delivery.
November 2015: International Journal of Obstetric Anesthesia
Simon A Jones, Martin Bialer, Rossella Parini, Ken Martin, Hui Wang, Ke Yang, Adam J Shaywitz, Paul Harmatz
BACKGROUND: Previous studies have shown that elosulfase alfa has a favorable efficacy/safety profile in Morquio A patients aged ≥5 y. This study evaluated safety and impact on urine keratan sulfate (uKS) levels and growth velocity in younger patients. METHODS: Fifteen Morquio A patients aged <5 y received elosulfase alfa 2.0 mg/kg/week for 52 wk during the primary treatment phase of a phase II, open-label, multinational study. Primary endpoint was safety and tolerability; secondary endpoints were change in uKS and growth velocity over 52 wk...
December 2015: Pediatric Research
Paul Harmatz
Lysosomal storage diseases arise because of genetic mutations that result in nonfunctioning or dysfunctional lysosomal enzymes responsible for breaking down molecules such as glycosaminoglycans or glycogen. Many of these storage diseases, such as the mucopolysaccharidosis (MPS) disorders and Pompe disease, can now be treated with infusion therapies to replace the dysfunctional protein with active enzyme. Although these therapies are effective, in at least one condition, infantile-onset Pompe disease, antibodies that develop against the drug significantly reduce its efficacy...
September 2015: Clinical Therapeutics
Claudia Cozma, Sabrina Eichler, Gyula Wittmann, Alba Flores Bonet, Guido Johannes Kramp, Anne-Katrin Giese, Arndt Rolfs
BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in accumulation of keratan sulfate and chondroitin-6-sulfate in tissues and secondary organ damage. Recently approved enzyme replacement therapy renders the easy and early identification of MPS IVA of out-most importance. METHODOLOGY: We propose a completely new assay for the stable and reproducible detection of GALNS deficiency in dry blood spots (DBS)...
2015: PloS One
Francyne Kubaski, Shunji Tomatsu, Pravin Patel, Tsutomu Shimada, Li Xie, Eriko Yasuda, Robert Mason, William G Mackenzie, Mary Theroux, Michael B Bober, Helen M Oldham, Tadao Orii, Thomas H Shaffer
In clinical practice, respiratory function tests are difficult to perform in Morquio syndrome patients due to their characteristic skeletal dysplasia, small body size and lack of cooperation of young patients, where in some cases, conventional spirometry for pulmonary function is too challenging. To establish feasible clinical pulmonary endpoints and determine whether age impacts lung function in Morquio patients non-invasive pulmonary tests and conventional spirometry were evaluated. The non-invasive pulmonary tests: impulse oscillometry system, pneumotachography, and respiratory inductance plethysmography in conjunction with conventional spirometry were evaluated in twenty-two Morquio patients (18 Morquio A and 4 Morquio B) (7 males), ranging from 3 to 40 years of age...
August 2015: Molecular Genetics and Metabolism
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