Alsafadi Danyah, Ezzat Aly, Altamimi Fatima, ElBagoury Marwan, Olfat Mohammed, Saleh Mohammed, Roushdy Sherif, Aktham Yahia
Al Aziziah Maternity and Children Hospital, Jeddah, Saudi Arabia.
Medical Affairs Department, Sanofi-Genzyme, Jeddah, Saudi Arabia.
JMIR Res Protoc. 2021 Aug 31;10(8):e28619. doi: 10.2196/28619.
Since the underlying cause of idiopathic short stature can indeed be undiagnosed mucopolysaccharidosis type I, it is critical to identify patients with mucopolysaccharidosis type I among screened patients with idiopathic short stature.
The primary objective of this study is to determine the prevalence of mucopolysaccharidosis type I disease in a high-risk group (ie, patients with idiopathic short stature).
We plan to perform a multicenter, cross-sectional screening study to primarily assess the prevalence of mucopolysaccharidosis type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents and guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics.
This protocol was approved by the Institutional Review Board of King Fahd Medical City and funded by Sanofi Genzyme Saudi Arabia. We expect to collect data from ≥800 patients, as determined by our sample size calculation.
Saudi Arabia is the largest country in the Arabian Peninsula; it has a population of more than 28 million people. To date, there are no reliable data regarding the incidence and prevalence of mucopolysaccharidosis type I in Saudi Arabia; therefore, future multicenter studies will be needed. Further, the prevalence of an attenuated form of mucopolysaccharidosis 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 the accurate estimation of the burden of mucopolysaccharidosis and the early diagnosis of patients.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/28619.
由于特发性身材矮小的潜在病因可能确实是未被诊断出的I型黏多糖贮积症，因此在筛查出的特发性身材矮小患者中识别出I型黏多糖贮积症患者至关重要。
本研究的主要目的是确定高危人群（即特发性身材矮小患者）中I型黏多糖贮积症的患病率。
我们计划开展一项多中心横断面筛查研究，主要评估特发性身材矮小患者中I型黏多糖贮积症的患病率。所有符合条件的患者在获得其父母和监护人的书面知情同意后将接受检测。符合条件的患者将在18个月内从儿科和遗传学专科护理中心招募。
本方案已获得法赫德国王医疗城机构审查委员会的批准，并由赛诺菲·健赞沙特阿拉伯公司资助。根据我们的样本量计算，我们预计从≥800名患者中收集数据。
沙特阿拉伯是阿拉伯半岛最大的国家，人口超过2800万。迄今为止，沙特阿拉伯尚无关于I型黏多糖贮积症发病率和患病率的可靠数据；因此，未来需要开展多中心研究。此外，由于缺乏有效的新生儿筛查项目，沙特阿拉伯对I型黏多糖贮积症一种轻症形式的患病率在很大程度上被低估。因此，实施全国性新生儿筛查项目对于准确估计黏多糖贮积症负担和患者的早期诊断至关重要。
国际注册报告识别码（IRRID）：PRR1-10.2196/28619。
