• MeSH
• DNA Probes MeSH
• Mucopolysaccharidosis III genetics   MeSH
• Research MeSH

• Publication type
• Meeting Abstract MeSH

BACKGROUND: The Morquio A Registry Study (MARS) is an ongoing, multinational, observational study of patients with MPS IVA. Key objectives of MARS are to characterize the heterogeneity and natural history of disease and to evaluate long-term effectiveness and safety of elosulfase alfa enzyme replacement therapy (ERT). Enrollment began in September 2014; data on medical history, clinical outcomes, and safety assessments are collected as part of routine care. RESULTS: As of February 2021, 381 subjects from 17 countries had enrolled in MARS: 58 ERT-naïve subjects and 323 ERT-treated subjects (≥1 infusion), with a mean ERT exposure of 5.5 years (SD 2.8) and median age at first ERT treatment of 9.8 years. ERT-treated subjects were younger at diagnosis (median 3.4 vs 6.5 years) relative to ERT-naïve subjects. Among ERT-treated subjects, urinary keratan sulfate (uKS) levels declined from pre-ERT baseline to last follow-up on treatment (mean % change [95% confidence interval]: -52.5% [-57.5%, -47.4%]; n = 115) and 6-min walk test distance remained stable (mean change: -6.1 [-27.6, 15.5] m; n = 131) over a mean follow-up of 5.5 years. Forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) increased in subjects who were < 18 years of age at ERT initiation (mean change: +0.3 [0.1, 0.4] L and + 0.4 [0.3, 0.5] L; mean follow-up: ∼6 years; n = 82) and were stable in subjects ≥18 years (mean change: 0.0 [-0.0, 0.1] L and 0.0 [-0.1, 0.1] L; mean follow-up: 4.6 years; n = 38). Overall, 148 (47.1%) ERT-treated subjects experienced ≥1 adverse event (AE) and 110 subjects (35%) reported ≥1 serious AE. Drug-related AEs were reported in 39 (12.4%) subjects; the most common were hypersensitivity (9 subjects [2.9%]), urticaria (8 subjects [2.5%]), and pyrexia (7 subjects [2.2%]). CONCLUSIONS: MARS is the longest and largest observational study of MPS IVA patients to date, with a heterogenous population that is representative of the MPS IVA population overall. Data collected over the first 6 years of MARS provide real-world evidence for long-term stabilization of endurance and respiratory function among ERT-treated patients, with no new safety concerns identified.

• MeSH
• Child MeSH
• Double-Blind Method MeSH
• Enzyme Replacement Therapy adverse effects   MeSH
• Keratan Sulfate urine   MeSH
• Humans MeSH
• Mucopolysaccharidosis IV * MeSH
• Registries MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Observational Study MeSH
• Research Support, Non-U.S. Gov't MeSH

Společnost pro MPS připravila k 20. výročí svého vzniku Almanach mapující příběhy nemocných dětí, pečujících rodin a činnost Společnosti. Almanach byl slavnostně pokřtěn dne 16. 12. 2014 v Praze.

• MeSH
• Mucopolysaccharidoses MeSH
• Organizations, Nonprofit MeSH
• Child Care MeSH
• Children with Disabilities MeSH
• Psychology, Social MeSH
• Child Rearing MeSH
• Publication type
• Almanac MeSH

• Conspectus
• Pediatrie
• NML Fields
• pediatrie
• pedagogika
• zdravotně postižení

• About
• Společnost pro mukopolysacharidosu Authority

• MeSH
• Child MeSH
• Mainstreaming, Education MeSH
• Rett Syndrome MeSH
• Education of Persons with Intellectual Disabilities methods   MeSH
• Check Tag
• Child MeSH
• Publication type
• Handbook MeSH

• Conspectus
• Výchova a vzdělávání zvláštních skupin osob
• NML Fields
• pedagogika

• MeSH
• Cardiac Pacing, Artificial methods   MeSH
• Pacemaker, Artificial MeSH
• Humans MeSH
• Heart Block therapy   MeSH
• Check Tag
• Humans MeSH

• MeSH
• Mucopolysaccharidoses MeSH
• Publication type
• Periodical MeSH

• Conspectus
• Fyziologie člověka a srovnávací fyziologie
• NML Fields
• vnitřní lékařství

Brožura se zaměřuje na mukopolysacharidózu u dětí a na její včasnou diagnózu. Určeno široké veřejnosti, zejména rodičům.

• MeSH
• Early Diagnosis MeSH
• Child MeSH
• Mucopolysaccharidoses diagnosis   MeSH
• Check Tag
• Child MeSH
• Publication type
• Popular Work MeSH

• Conspectus
• Pediatrie
• NML Fields
• pediatrie
• vnitřní lékařství
• genetika, lékařská genetika
• NML Publication type
• brožury

Příručka se zaměřuje na potřeby a vzdělávání zdravotně postižených dětí v Česku. Určeno široké veřejnosti, zejména rodičům zdravotně postižených dětí.

• MeSH
• Mainstreaming, Education MeSH
• Children with Disabilities education   MeSH
• Family MeSH
• Schools MeSH
• Education, Special MeSH
• Teaching MeSH
• Legislation as Topic MeSH
• Publication type
• Popular Work MeSH
• Handbook MeSH
• Geographicals
• Czech Republic MeSH

• Conspectus
• Výchova a vzdělávání zvláštních skupin osob
• NML Fields
• pedagogika
• zdravotně postižení