Mucopolysaccharidosis type <scp>VI</scp> in <scp>R</scp>ussia, <scp>K</scp>azakhstan, and Central and Eastern <scp>E</scp>urope

Jurecka, Agnieszka; Zakharova, Ekaterina; Gusina, Nina; Malinová, Věra; Różdżyńska-Świątkowska, Agnieszka; Gołda, Adam; Kulpanovich, Anna; Abdilova, Gulnara Kaldenovna; Voskoboeva, Elena; Tylki‐Szymańska, Anna

doi:10.1111/ped.12281

Cited by 25 publications

(22 citation statements)

References 18 publications

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“…Both the low and high uGAG groups showed stabilization of endurance (6MWT, 3MSCT) and pulmonary function (FEV 1 , FVC, and MVV) after 6 to 8 years follow‐up. When interpreting these results, one should consider the natural history of MPS VI, associated with a gradual deterioration of clinical manifestations with aging, and resulting in premature mortality . The long‐term improvements in endurance and pulmonary function seen in the present study suggest that ERT stabilizes MPS VI disease progression in the long‐term.…”

Section: Discussionmentioning

confidence: 52%

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Harmatz

Lampe

Parini

et al. 2019

J of Inher Metab Disea

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The impact of galsulfase enzyme replacement therapy in patients with mucopolysaccharidosis (MPS) VI with phenotypes at either end of the disease spectrum was evaluated. The MPS VI Clinical Surveillance Program (CSP) was established to collect long-term observational data from routine clinical and laboratory assessments. A subanalysis of the CSP was performed in patients with pretreatment urinary glycosaminoglycan (uGAG) levels <100 μg/mg and ≥200 μg/mg creatinine (low-and high-uGAG) who had received galsulfase for ≥6 months. uGAG, 6-minute walk test (6MWT), 3-minute stair climb test (3MSCT), pulmonary function measures, height/growth, cardiac function, and safety were evaluated. Patients with a high-uGAG level at pre-treatment baseline (N = 68) showed greater impairments in endurance and pulmonary function than those with low-baseline uGAG levels (N = 39). From pre-treatment baseline, the distance walked on the 6MWT in the low-and high-uGAG groups increased by a mean (±SD) of 49 (±151) meters and 42 (±165) meters (median follow-up 5.5 and 7.7 years), respectively. The number of stairs/min climbed in the 3MSCT in the low-and high-uGAG groups increased by a mean of 18 (±33) and 30 (±45) (median follow-up 2.8 and 3.5 years), respectively. Overall, pulmonary function remained unchanged for both groups. No impact was seen on cardiac function. Galsulfase was generally well tolerated in both groups, with most adverse events being MPS-related complications unrelated to galsulfase. Results of this CSP sub-analysis suggest that galsulfase stabilizes MPS VI in the long-term and has an acceptable safety profile, regardless of baseline disease severity. K E Y W O R D S disease severity, urinary GAG, efficacy, enzyme replacement therapy, galsulfase, Maroteaux-Lamy syndrome, mucopolysaccharidosis VI, registry, safety

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Section: Discussionmentioning

confidence: 52%

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Harmatz

Lampe

Parini

et al. 2019

J of Inher Metab Disea

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“…The MPS VI incidence values for Poland were the lowest of all the studies previously published so far. Interestingly, in our previous study, we found high incidence rates for MPS VI in countries neighboring with Poland (Jurecka et al 2014 ). In fact, they were the highest in Europe among those reported so far.…”

Section: Discussionmentioning

confidence: 72%

Prevalence rates of mucopolysaccharidoses in Poland

et al. 2014

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The aim of this study was to determine the prevalence rates of mucopolysaccharidoses in Poland and to compare them with other European countries. A retrospective epidemiological survey covering the period between 1970 and 2010 was implemented. Multiple ascertainment sources were used to identify affected patients. The overall prevalence of mucopolysaccharidoses in the Polish population was 1.81 per 100,000. Five different mucopolysaccharidoses were diagnosed in a total of 392 individuals. MPS III was the most frequent mucopolysaccharidosis, with a birth prevalence of 0.86 per 100,000 live births. A prevalence of approximately 0.22 cases per 100,000 births was obtained for MPS I. For MPS II, the prevalence was estimated as 0.45 cases per 100,000 births; for MPS IV A and B as 0.14 cases in 100,000 births; and that for MPS VI as 0.03 cases per 100,000 births. 1. The prevalence pattern of mucopolysaccharidosis in Poland is lower when compared to the prevalence reported for other European countries, such as the Netherlands, Czech Republic, or Germany, but similar to countries like Sweden and Denmark. 2. Different frequencies of the various forms of mucopolysaccharidosis were observed. 3. In the case of MPS VI, the incidence values for Poland were the lowest of all the studies previously published so far.

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“…Jurecka et al have reported MPS VI cases between 1983 and 2011 in Kazakhstan and Russia and compared with central and eastern European countries [133]. A high incidence of the p.R152W mutation was observed both in the whole series (42%) as well as in Russian patients (43%).…”

Section: Discussionmentioning

confidence: 99%

Epidemiology of mucopolysaccharidoses

Khan

Peracha

Ballhausen³

et al. 2017

Molecular Genetics and Metabolism

320

239

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The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. Data for Japan was collected between 1982 and 2009, and 467 cases with MPS were identified. The combined birth prevalence was 1.53 per 100,000 live births. The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. A retrospective epidemiological data collection was performed in Switzerland between 1975 and 2008 (34 years), and 41 living MPS patients were identified. The combined birth prevalence was 1.56 per 100,000 live births. The highest birth prevalence was 0.46 for MPS II, accounting for 29% of all MPS. MPS I, III, and IV accounted for 12, 24, and 24%, respectively. As seen in the Japanese population, MPS VI and VII were more rare and accounted for 7.3 and 2.4%, respectively. The high birth prevalence of MPS II in Japan was comparable to that seen in other East Asian countries where this MPS accounted for approximately 50% of all forms of MPS. Birth prevalence was also similar in some European countries (Germany, Northern Ireland, Portugal and the Netherlands) although the prevalence of other forms of MPS is also reported to be higher in these countries. Birth prevalence of MPS II in Switzerland and other European countries is comparatively lower. The birth prevalence of MPS III and IV in Switzerland is higher than in Japan but comparable to that in most other European countries. Moreover, the birth prevalence of MPS VI and VII was very low in both Switzerland and Japan. Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of MPS, as seen for other rare genetic diseases. Methods for identification of MPS patients are not uniform across all countries, and consequently, if patients are not identified, recorded prevalence rates will be aberrantly low.

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Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe

Cited by 25 publications

References 18 publications

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

Prevalence rates of mucopolysaccharidoses in Poland

Epidemiology of mucopolysaccharidoses

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