A database for screening and registering late onset Pompe disease in Turkey

Gökyiğit, Münevver; Ekmekçi, Hakan; Durmuş, Hacer; Karlı, Necdet; Köseoğlu, Emel; Aysal, Fikret; Kotan, Dilcan; Ali, Asuman; Koytak, Pınar Kahraman; Karasoy, Hatice; Yaman, Aylın; Şengün, İhsan Şükrü; Sayın, Refah; Tiftikçioğlu, Bedile İrem; Soysal, Aysun; Tutkavul, Kemal; Bayrak, Ayşe; Kısabay, Ayşın; Elçi, Mehmet Ali; Yayla, Vildan; Yılmaz, İbrahim; Özdamar, Sevim Erdem; Erdoǧan, Çağdaş; Taşdemir, Nebahat; Oflazer, Piraye

doi:10.1016/j.nmd.2017.12.008

Cited by 8 publications

(10 citation statements)

References 16 publications

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“…The prevalence of Pompe disease was 1.6% in adult patients with unclassified axial or limb-girdle muscle weakness, hyperCKemia, or RI. This finding is similar to those of previous studies, with a combined prevalence of 2.4% (Table 3) (8)(9)(10)(11)(12)(13)(14)(15). The age at symptom onset and diagnosis was later than previous reports of Chinese LOPD cohorts (16,17,21,22).…”

Section: Discussionsupporting

confidence: 90%

“…Rapid diagnostic techniques, such as the dried blood spot (DBS) test, have been widely used for detecting GAA activity in large-scale screening studies to enable early LOPD diagnosis. The importance of DBS for Pompe disease screening in patients with unclassified limb-girdle weakness or asymptomatic hyperCKemia, with a prevalence of 1.1-4.6%, has been demonstrated in several studies (8)(9)(10)(11)(12)(13)(14)(15). GAA mutational hotspots between Chinese and European patients with LOPD show variations (16).…”

Section: Introductionmentioning

confidence: 99%

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High-risk screening of late-onset Pompe disease: A different early portrait in China

et al. 2022

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IntroductionThe lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in high-risk populations and define the early manifestation of LOPD in China.MethodsBetween August 2020 and April 2021, the participants were prospectively identified through medical examination at 20 centers from inpatient departments and outpatient neuromuscular clinics in China. The inclusion criteria were as follows: (1) age ≥ 1 year and (2) either one of the following conditions: (a) persistent hyperCKemia, (b) muscle weakness of the axial and/or limb-girdle muscles, or (c) unexplained restrictive respiratory insufficiency (RI). Enzymatic activity of acid α-glucosidase (GAA) was measured in a dried blood spot (DBS) using a tandem mass spectrometry (MS/MS) assay. Next-generation sequencing (NGS) was used to evaluate all samples with decreased GAA activity, searching for GAA mutations and pseudodeficiency alleles.ResultsAmong the 492 cases, 26 positive samples (5.3%) were detected in the DBS test. Molecular studies confirmed a diagnosis of LOPD in eight cases (1.6%). Using MS/MS assay, GAA activities in individuals with pseudodeficiency could be distinguished from those in patients with LOPD. The median interval from the onset of symptoms to diagnosis was 5 years. All patients also showed RI, with a mean forced vital capacity (FVC) of 48%, in addition to axial/proximal muscle weakness. The creatine kinase (CK) level ranged from normal to no more than 5-fold the upper normal limit (UNL). LOPD with isolated hyperCKemia was not identified.ConclusionLess frequent hyperCKemia and predominant RI depict a different early portrait of adult Chinese patients with LOPD. A modified high-risk screening strategy should be proposed for the early diagnosis of Chinese patients with LOPD.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

High-risk screening of late-onset Pompe disease: A different early portrait in China

et al. 2022

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“…In our study, the prevalence of adult Pompe disease is 1.6% in patients with unclassi ed axial or limb-girdle muscle weakness/ hyperCKemia/ respiratory insu ciency. This nding is slightly lower compared with previous published studies in other populations, with a combined prevalence of 2.4% (Table 3) [8][9][10][11][12][13][14][15]. Although it was reported that there is a higher prevalence of Pompe disease in Taiwan, the patients with LOPD in Taiwan often showed onset of symptoms in their second decade of life with rapid disease progression [17,21].…”

Section: Discussioncontrasting

confidence: 55%

“…In this study, since most centers involved are adult neurology departments, the prevalence of younger LOPD patients might largely be overlooked. The e cacy of DBS has been described in newborn screening and other studies in Pompe disease [8][9][10][11][12][13][14][15]. De cient DBS GAA activity can be caused by incorrect DBS spotting and sampling, and environmental circumstances such a high temperature during transport.…”

Section: Discussionmentioning

confidence: 99%

“…The development of more rapid diagnostic tools, such as the dried blood spot (DBS), were widely used to detect GAA activity in large-scale screening studies in order to facilitate earlier diagnosis. A number of studies have proven the value of DBS in screening for Pompe disease in patients with unclassi ed limb-girdle weakness or asymptomatic hyperCKemia, with prevalence between 1.1%-4.6% [8][9][10][11][12][13][14][15]. In Chinese patients with LOPD, GAA mutational hotspots are different from European populations [16].…”

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confidence: 99%

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Prominent Respiratory Involvement Featured in High-Risk Screening for Late-Onset Pompe Disease in China

Jiao¹,

Dong²,

Luo³

et al. 2021

Preprint

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Backgroud: Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficulty. A multicenter observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in high-risk population, using dried blood spot (DBS) as a main screening tool.Methods: 20 Chinese neuromuscular centers were involved in the early LOPD screening study. Inclusion criteria were: (1) age ≥1 years, (2) either one of a) persistent hyperCKemia; or b) muscle weakness of axial and/or limb-girdle muscles; or c) unexplained restrictive respiratory insufficiency. Enzymatic activity of acid α-glucosidase (GAA) was measured on DBS by tandem mass spectrometry (MS/MS) assay. For the final diagnosis genotype was assessed by next-generation sequencing.Result: In a 9-month period, we studied 492 cases: 26 positive samples (5.3%) were detected by DBS screening. Molecular studies finally confirmed LOPD diagnosis in 8 cases (1.6%). The GAA activities in individuals bearing pseudodeficiency alleles were well separated from those in LOPD patients by MS/MS assay. The median interval from the onset of symptoms to diagnosis was 5 years. Besides axial/proximal muscle weakness, all patients showed respiratory insufficiency with a mean forced vital capacity of predicted of 48%. The level of creatine kinase ranged from normal to no more than 5-fold of upper normal limit. LOPD with isolated hyperCKemia was not identified.Conclusions: This study confirms that DBS test is a reliable method for screening for LOPD. Respiratory insufficiency is earlier and more severe among Chinese LOPD patients. LOPD presented with paucisymptomatic hyperCKemia. Therefore, a prompt diagnosis is critical to prognosis.

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High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study

Jiao,

Zhu,

Chang

et al. 2024

J of Inher Metab Disea

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Late‐onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha‐glucosidase (GAA), leading to progressive limb‐girdle weakness and respiratory impairment. The insidious onset of non‐specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high‐risk screening criteria for LOPD in the Chinese population. A total of 726 patients were included, including 96 patients under 14 years of age. Dried blood spots (DBS) and tandem mass spectrometry (MS/MS) were employed to evaluate serum GAA activity. Forty‐four patients exhibited a decreased GAA activity, 16 (2.2%) of which were confirmed as LOPD by genetic testing. Three previously unreported GAA mutations were also identified. The median diagnostic delay was shortened to 3 years, which excelled the previous retrospective studies. At diagnosis, most patients exhibited impaired respiratory function and/or limb‐girdle weakness. Elevated serum creatine kinase (CK) levels were more frequently observed in patients who manifested before age 16. Overall, high‐risk screening is a feasible and efficient method to identify LOPD patients at an early stage. Patients over 1 year of age with either weakness in axial and/or proximal limb muscles, or unexplained respiratory distress shall be subject to GAA enzymatic test, while CK levels above 2 times the upper normal limit shall be an additional criterion for patients under 16. This modified high‐risk screening criteria for LOPD requires further validation in larger Chinese cohorts.

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A database for screening and registering late onset Pompe disease in Turkey

Cited by 8 publications

References 16 publications

High-risk screening of late-onset Pompe disease: A different early portrait in China

High-risk screening of late-onset Pompe disease: A different early portrait in China

Prominent Respiratory Involvement Featured in High-Risk Screening for Late-Onset Pompe Disease in China

High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study

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