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. 2018 Jul 20:16:57-63.
doi: 10.1016/j.ymgmr.2018.06.006. eCollection 2018 Sep.

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

Maria Bleier  1 , Nataliya Yuskiv  1 , Tina Priest  2 , Marioara Angela Moisa Popurs  1 , Sylvia Stockler-Ipsiroglu  1   3 ; BC Children's Hospital; University of British Columbia
Affiliations

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

Maria Bleier et al. Mol Genet Metab Rep. .

Abstract

Morquio B disease (MBD) or Mucopolysaccharidosis type IV B (MPS IV B) is caused by particular GLB1 mutations specifically affecting the affinity of beta-galactosidase to keratan sulphate, resulting in dysostosis multiplex resembling Morquio A (MPS IV A) disease (GALNS deficiency). Additional neuronopathic features of GM1 II/III (juvenile/adult) gangliosidosis have been reported in some patients. Our patient/caregiver online survey was aimed at elucidating the clinical manifestations of this ultra-rare condition. Comparing to previously published data on MPS IV A, the 30 respondents in our MBD group presented with greater growth chart values (weight and height) and with lesser effects of odontoid hypoplasia. The most common concerns are: (1) mobility issues - 84% having difficulty walking; (2) chronic pain - 96%; (3) surgeries - average 3 per person, 80% for hip problems; (4) hip dysplasia, knee/ankle concerns, and scoliosis. Approximately 50% of MBD participants live independently and actively contributing to society. Evidence from our survey results supports the notion that skeletal manifestations in MBD are milder than in the majority of patients with MPS IV A. The data collected will help with the establishment of clinically meaningful outcomes for future therapeutic trials, and with the counseling of newly diagnosed patients about their health expectations.

Keywords: GM1 gangliosidosis; Lysosome; Natural history; Skeletal dysplasia.

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Figures

Fig. 1
Fig. 1
Age range of participants with MBD (n = 25).
Fig. 2
Fig. 2
a) Weight (kg) and b) height (cm) values reported by MBD patients at ages >19 yrs. showing individual values for female participant (squares) and male participants (diamonds). The 15th and 50th weight percentile values for male (M) and female (F) (WHO growth charts for Canada) were included. The value for mean a) weights (kg) and b) heights of male (green triangle) and female (grey X) MPS IV A patients were included [12]. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)
Fig. 3
Fig. 3
Number of MBD participants (n = 17) who reported having each of the clinical symptoms as initial manifestation. Numbers at the top indicate number of participants who had each clinical symptom.
Fig. 4
Fig. 4
Number of MBD participants (n = 15) who reported using walking aids, showing the age distribution of their first time use of walking aids. Numbers at the top indicate number of participants in each age range.
Fig. 5
Fig. 5
Surgical operations performed on MBD patients n = 25.Values italicized above each bar depicts the mean age of the patients who underwent surgery*.
See this image and copyright information in PMC

References

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Websites

    1. Information on Clinical Trials and Research Studies 2018. https://rarediseases.org/for-patients-and-families/information-resources... Retrieved from.
    1. Morquio B. Com Dedicated to Morquio B (MPS IVB) Funding and Research (2010). Retrieved from http://www.morquiob.com/
    1. WHO Growth Charts Set 1 2018. https://www.dietitians.ca/dietitians-views/prenatal-and-infant/who-growt... Retrieved from.

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