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Accepted for/Published in: JMIR Research Protocols

Date Submitted: Mar 8, 2021
Date Accepted: Jun 8, 2021

The final, peer-reviewed published version of this preprint can be found here:

Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study

Alsafadi D, Ezzat A, Altamimi F, ElBagoury M, Olfat M, Saleh M, Roushdy S, Aktham Y

Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study

JMIR Res Protoc 2021;10(8):e28619

DOI: 10.2196/28619

PMID: 34463634

PMCID: 8441598

Mucopolysaccharidosis Type I Disease Prevalence among Idiopathic Short Stature Patients in Saudi Arabia: A Multicenter, Cross-sectional, Study Protocol

  • Danyah Alsafadi; 
  • Aly Ezzat; 
  • Fatima Altamimi; 
  • Marwan ElBagoury; 
  • Mohammed Olfat; 
  • Mohammed Saleh; 
  • Sherif Roushdy; 
  • Yahia Aktham

ABSTRACT

Background:

Since the underlying cause of an idiopathic short stature, could be indeed an undiagnosed MPS type I patient, it will be critical to identify MPS type I patients amongst screened patients with idiopathic short stature. Therefore, the primary objective of this study is to determine the prevalence of MPS type I disease in the high-risk group (patients with idiopathic short stature).

Methods:

We planned to perform a multicenter, cross-sectional, screening study to primarily assess the prevalence of MPS type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents/guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics. A total of 800 patients was required for this study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. To date, there are no reliable data regarding the incidence or prevalence of MPS type I in Saudi Arabia, and future multicenter studies are needed. Besides, the prevalence of an attenuated form of MPS type I is largely underestimated in Saudi Arabia due to the absence of an effective newborn screening program. Therefore, the implementation of a nationwide newborn screening program is essential for accurate estimation of the burden of MPS and early diagnosis of the patients.


 Citation

Please cite as:

Alsafadi D, Ezzat A, Altamimi F, ElBagoury M, Olfat M, Saleh M, Roushdy S, Aktham Y

Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study

JMIR Res Protoc 2021;10(8):e28619

DOI: 10.2196/28619

PMID: 34463634

PMCID: 8441598

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