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. 2024 Jul 17;19(1):269.
doi: 10.1186/s13023-024-03237-3.

Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia

Moeenaldeen AlSayed  1 , Dia Arafa  2 , Huda Al-Khawajha  3 , Manal Afqi  4 , Nouriya Al-Sanna'a  5 , Rawda Sunbul  6 , Maha Faden  7
Affiliations

Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia

Moeenaldeen AlSayed et al. Orphanet J Rare Dis. .

Abstract

Background: Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of debilitating clinical manifestations. These conditions are thought to have higher-than-average prevalence rates in Saudi Arabia due to high rates of consanguineous marriage in the country. There are several unmet needs associated with the management of these diseases in Saudi Arabia.

Main body: The aim of this manuscript is to contextualize unmet management needs and provide recommendations to optimize diagnosis, multidisciplinary care delivery, and local data generation in this disease area. An expert panel was assembled comprising seven consultant geneticists from across Saudi Arabia. The Delphi methodology was used to obtain a consensus on statements relating to several aspects of mucopolysaccharidosis types IVa and VI. A consensus was reached for all statements by means of an online, anonymized voting system. The consensus statements pertain to screening and diagnosis, management approaches, including recommendations pertaining to enzyme replacement therapy, and local data generation.

Conclusion: The consensus statements presented provide specific recommendations to improve diagnostic and treatment approaches, promote multidisciplinary care and data sharing, and optimize the overall management of these rare inherited diseases in Saudi Arabia.

Keywords: Clinical genetics; Enzyme replacement therapy; Lysosomal storage disease; MPS; Maroteaux-lamy syndrome; Metabolic disease; Morquio a syndrome; Multidisciplinary care.

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Conflict of interest statement

Moeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, Manal Afqi, Nouriya Al-Sanna’a, Rawda Sunbul, and Maha Faden received honoraria fees from BioMarin Pharmaceutical Inc. as advisory board members.

Figures

Fig. 1
Fig. 1
Level of agreement with the statement “HSCT is ineffective in MPS IVa and is not recommended for these patients” as per a panel of consultant geneticists in Saudi Arabia (number of respondents = 6) [22] HSCT, hematopoietic stem cell transplantation; MPS, mucopolysaccharidoses
Fig. 2
Fig. 2
Proportion of patients with MPS IVa or MPS VI that are expatriates as per a panel of consultant geneticists in Saudi Arabia (number of respondents = 6) [22] MPS, mucopolysaccharidoses. Proportion of expatriates among MPS IVa and MPS VI patient population
See this image and copyright information in PMC

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