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Morquio syndrome

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https://www.readbyqxmd.com/read/28524215/-novel-therapies-in-neurometabolic-diseases-the-importance-of-early-intervention
#1
L G Gutierrez-Solana
INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28459776/postoperative-regression-of-retro-odontoid-pseudotumor-after-atlantoaxial-posterior-fixation-11-years-of-experience-in-patients-with-atlantoaxial-instability
#2
Jung Hyun Park, Eugene Lee, Joon Woo Lee, Yusuhn Kang, Joong Mo Ahn, Jin S Yeom, Heung Sik Kang
STUDY DESIGN: Case series study. OBJECTIVE: The aim was to investigate the incidence of retro-odontoid pseudotumor in patients with atlantoaxial instability (AAI) and evaluate pseudotumor regression after posterior fixation. SUMMARY OF BACKGROUND DATA: The incidence of retro-odontoid pseudotumor in atlantoaxial instability patients remains uncertain. Moreover, the regression of retro-odontoid pseudotumor after posterior fixation in patients with various underlying diseases needs to be further investigated...
April 28, 2017: Spine
https://www.readbyqxmd.com/read/28441951/minimal-clinically-important-difference-for-the-6-min-walk-test-literature-review-and-application-to-morquio-a-syndrome
#3
REVIEW
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble, Kaustuv Bhattacharya
Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality. Studies in Morquio A patients have used the 6-min walk test (6MWT) to assess functionality and endurance and to evaluate disease progression or efficacy of treatment. The objective of the present study was to review minimal clinically important differences (MCIDs) for the 6MWT reported for disease states that widely use the 6MWT to evaluate clinical benefit and to discuss the results in view of the challenges in estimating MCID for ultra-rare diseases, using the case of elosulfase alfa in Morquio A patients...
April 26, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28397226/-analysis-of-clinical-features-and-galns-gene-mutation-in-a-patient-with-mucopolysaccharidosis-type-iv-a
#4
Qiong Chen, Yongxing Chen, Xiaojing Liu, Haiyan Wei
OBJECTIVE: To detect potential mutation of galactosamine-6-sulfate (GALNS) gene in a Chinese girl affected with mucopolysaccharidosis type IV A (Morquio A syndrome). METHODS: The patient was diagnosed by assaying the activities of mucopolysaccharidosis-related enzymes in leukocytes. Potential mutation in the GALNS gene was detected with PCR and Sanger sequencing. RESULTS: The patient was characterized by short stature, skeletal deformities, normal intelligence, and auditory dysfunction...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28292383/mucopolysaccharidoses-clinical-spectrum-and-frequency-of-different-types
#5
Huma Arshad Cheema, Hassan Suleman Malik, Muhammad Almas Hashmi, Zafar Fayyaz, Iqra Mushtaq, Nagina Shahzadi
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#6
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28191355/morquio-s-syndrome-a-case-report-of-two-siblings
#7
Sathish Muthukumar Ramalingam, Daya Srinivasan, Sandhya ArunKumar, Joe Louis ChiriyanKandath, Sriram Kaliamoorthy
Morquio syndrome or MPS IVA is a rare type of lysosomal storage disease associated with highly specific dental abnormalities. We present two siblings with enamel hypoplasia and skeletal abnormalities. A diagnosis of mucopolysaccharidosis type IVA was reached based on the clinical, radiographic, and dental findings of the patients. The dental findings are useful diagnostic aid for the early diagnosis of this debilitating disorder.
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27977582/spine-malformation-complex-in-3-diverse-syndromic-entities-case-reports
#8
Ali Al Kaissi, Andreas van Egmond-Fröhlich, Sergey Ryabykh, Polina Ochirov, Vladimir Kenis, Jochen G Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. PATIENTS CONCERNS: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27955919/long-term-immunogenicity-of-elosulfase-alfa-in-the-treatment-of-morquio-a-syndrome-results-from-mor-005-a-phase-iii-extension-study
#9
Brian Long, Troy Tompkins, Celeste Decker, Lynne Jesaitis, Shahid Khan, Peter Slasor, Paul Harmatz, Charles A O'Neill, Becky Schweighardt
PURPOSE: Elosulfase alfa is an enzyme replacement therapy for the treatment of Morquio A syndrome (mucopolysaccharidosis IVA), a lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactose-amine-6-sulfatase. We previously reported immunogenicity data from our 24-week placebo-controlled Phase III study, MOR-004. Here, we report the long-term immunogenicity profile of elosulfase alfa from MOR-005, the Phase III extension trial to assess potential correlations between antidrug antibodies and efficacy and safety profile outcomes throughout 120 weeks of treatment...
January 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/27857796/dwarf-with-dual-spinal-kyphotic-deformity-at-the-cervical-and-dorsal-spine-unassociated-with-odontoid-hypoplasia-surgical-management
#10
Guru Dutta Satyarthee, Dipanker Singh Mankotia
Morquio's syndrome is associated with systemic skeletal hypoplasia leading to generalized skeletal deformation. The hypoplasia of odontoid process is frequent association, which is responsible for atlantoaxial dislocation causing compressive myelopathy. However, development of sub-axial cervical kyphotic deformity unassociated with odontoid hypoplasia is extremely rare, and coexistence of dorsal kyphotic deformity is not reported in the western literature till date and represents first case. Current case is 16-year-old boy, who presented with severe kyphotic deformity of cervical spine with spastic quadriparesis...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27855521/elosulfase-alfa-bmn-110-for-the-treatment-of-mucopolysaccharidosis-iva-morquio-a-syndrome
#11
REVIEW
Christian J Hendriksz
Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In 2014, the use of recombinant human GALNS, elosulfase alfa, was approved in the European Union, Canada, the United States, Australia, and Brazil for the treatment of Morquio A syndrome. Elosulfase alfa is administered intravenously once-weekly at a dose of 2.0 mg/kg. Areas covered: This is a review of the efficacy, safety and tolerability, pharmacokinetics and pharmacodynamics, and other outcomes of elosulfase alfa treatment of patients with Morquio A...
December 2016: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/27789297/antibodies-that-neutralize-cellular-uptake-of-elosulfase-alfa-are-not-associated-with-reduced-efficacy-or-pharmacodynamic-effect-in-individuals-with-morquio-a-syndrome
#12
Andrew C Melton, Russell K Soon, Troy Tompkins, Brian Long, Becky Schweighardt, Yulan Qi, Catherine Vitelli, Anil Bagri, Celeste Decker, Charles A O'Neill, Stephen J Zoog, Lynne Jesaitis
Many enzyme replacement therapies (ERTs) for lysosomal storage disorders use the cell-surface cation-independent mannose-6 phosphate receptor (CI-M6PR) to deliver ERTs to the lysosome. However, neutralizing antibodies (NAb) may interfere with this process. We previously reported that most individuals with Morquio A who received elosulfase alfa in the phase 3 MOR-004 trial tested positive for NAbs capable of interfering with binding to CI-M6PR ectodomain in an ELISA-based assay. However, no correlation was detected between NAb occurrence and clinical efficacy or pharmacodynamics...
January 2017: Journal of Immunological Methods
https://www.readbyqxmd.com/read/27774754/impact-of-elosulfase-alfa-in-patients-with-morquio-a-syndrome-who-have-limited-ambulation-an-open-label-phase-2-study
#13
Paul R Harmatz, Eugen Mengel, Tarekegn Geberhiwot, Nicole Muschol, Christian J Hendriksz, Barbara K Burton, Elisabeth Jameson, Kenneth I Berger, Andrea Jester, Marsha Treadwell, Zlatko Sisic, Celeste Decker
Efficacy and safety of elosulfase alfa enzyme replacement therapy (ERT) were assessed in an open-label, phase 2, multi-national study in Morquio A patients aged ≥5 years unable to walk ≥30 meters in the 6-min walk test. Patients received elosulfase alfa 2.0 mg/kg/week intravenously for 48 weeks. Efficacy measures were functional dexterity, pinch/grip strength, mobility in a modified timed 25-foot walk, pain, quality of life, respiratory function, and urine keratan sulfate (KS). Safety/tolerability was also assessed...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27645974/surgical-reconstruction-for-severe-tracheal-obstruction-in-morquio-a-syndrome
#14
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
https://www.readbyqxmd.com/read/27610627/heart-and-cardiovascular-involvement-in-patients-with-mucopolysaccharidosis-type-iva-morquio-a-syndrome
#15
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
https://www.readbyqxmd.com/read/27553181/impact-of-long-term-elosulfase-alfa-treatment-on-respiratory-function-in-patients-with-morquio-a-syndrome
#16
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
https://www.readbyqxmd.com/read/27442409/4th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-14th-2015
#17
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)
https://www.readbyqxmd.com/read/27380995/long-term-endurance-and-safety-of-elosulfase-alfa-enzyme-replacement-therapy-in-patients-with-morquio-a-syndrome
#18
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
https://www.readbyqxmd.com/read/27251659/corrections-of-diverse-forms-of-lower-limb-deformities-in-patients-with-mucopolysaccharidosis-type-iva-morquio-syndrome
#19
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
https://www.readbyqxmd.com/read/27161890/activity-of-daily-living-for-morquio-a-syndrome
#20
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
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