Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Al-Hassnan, Zuhair N.; Hashmi, Nadia Al; Makhseed, Nawal; Omran, Tawfeg Ben; Jasmi, Fatma Al; Teneiji, Amal Al

doi:10.1186/s13023-022-02545-w

Cited by 4 publications

(2 citation statements)

References 32 publications

(67 reference statements)

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“…These factors will need to be carefully considered in order to understand the variations in treatment response among IOPD patients. In summary, collective evidence from clinical trial cohort studies, case series, and expert consensus [ 150, 151 ] supports the early management of IOPD patients with immunomodulation and a low-dose ERT (20 mg/kg/EOW). Additionally, the potential benefits of earlier and higher regimens have been suggested and require further investigation.∥ Early treatment in symptomatic and asymptomatic late-onset Pompe disease: Differentiating between IOPD and LOPD in NBS is challenging due to the limitations of enzyme assays.…”

Section: Neuromuscular Diseases With Evidence Supporting Benefits Of ...mentioning

confidence: 99%

The Importance of Early Treatment of Inherited Neuromuscular Conditions

Mackels,

Servais

2024

JND

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There has been tremendous progress in treatment of neuromuscular diseases over the last 20 years, which has transformed the natural history of these severely debilitating conditions. Although the factors that determine the response to therapy are many and in some instance remain to be fully elucidated, early treatment clearly has a major impact on patient outcomes across a number of inherited neuromuscular conditions. To improve patient care and outcomes, clinicians should be aware of neuromuscular conditions that require prompt treatment initiation. This review describes data that underscore the importance of early treatment of children with inherited neuromuscular conditions with an emphasis on data resulting from newborn screening efforts.

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Section: Neuromuscular Diseases With Evidence Supporting Benefits Of ...mentioning

confidence: 99%

The Importance of Early Treatment of Inherited Neuromuscular Conditions

Mackels,

Servais

2024

JND

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“…Pompe disease (OMIM #232300), also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII), is a rare and severe autosomal recessive lysosomal storage disorder arising from inadequate activity of the enzyme acid alpha-glucosidase (GAA) 1 . This deficiency, attributed to mutations in the GAA gene, disrupts the breakdown of glycogen into glucose within lysosomes, causing its accumulation across various tissues, prominently in skeletal and cardiac muscles, as well as in the liver and neurons.…”

Section: Introductionmentioning

confidence: 99%

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records

Rustamov,

Mohamad

et al. 2024

Preprint

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Pompe disease (OMIM #232300), a rare genetic disorder, leads to glycogen buildup in the body due to an enzyme deficiency, particularly harming the heart and muscles. Infantile-onset Pompe disease (IOPD) requires urgent treatment to prevent mortality, but diagnosis is often delayed by inadequate newborn screening (NBS) methods or the unavailability of these methods. Our study aims to streamline IOPD diagnosis in the UAE using electronic health records (EHRs) for faster, more accurate detection and timely treatment initiation. This study utilized electronic health records from the Abu Dhabi Healthcare Company (SEHA) healthcare network in the UAE to develop an expert rule-based screening approach operationalized through a dashboard. The study encompassed six diagnosed IOPD patients and screened 93,365 subjects. Expert rules were formulated to identify potential high-risk IOPD patients based on their age, particular symptoms, and creatine kinase levels. The proposed approach was evaluated using accuracy, sensitivity, and specificity. The proposed approach accurately identified five true positives, one false negative, and four false positive IOPD cases. The false negative case involved a patient with both Pompe disease and congenital heart disease. The focus on CHD led to the overlooking of Pompe disease, exacerbated by no measurement of creatine kinase. The false positive cases were diagnosed with Mitochondrial DNA depletion syndrome 12-A (SLC25A4 gene), Immunodeficiency-71 (ARPC1B mutation), Niemann-Pick disease type C (NPC1 gene mutation leading to frameshift), and Group B Streptococcus meningitis. The proposed approach of integrating expert rules with a dashboard facilitated efficient data visualization and automated patient screening, which aids in the early detection of Pompe disease. Future studies are encouraged to investigate the application of machine learning methodologies to enhance further the precision and efficiency of identifying patients with IOPD.

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An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records

Rustamov,

Mohamad

et al. 2024

Sci Rep

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Pompe disease (OMIM #232300), a rare genetic disorder, leads to glycogen buildup in the body due to an enzyme deficiency, particularly harming the heart and muscles. Infantile-onset Pompe disease (IOPD) requires urgent treatment to prevent mortality, but the unavailability of these methods often delays diagnosis. Our study aims to streamline IOPD diagnosis in the UAE using electronic health records (EHRs) for faster, more accurate detection and timely treatment initiation. This study utilized electronic health records from the Abu Dhabi Healthcare Company (SEHA) healthcare network in the UAE to develop an expert rule-based screening approach operationalized through a dashboard. The study encompassed six diagnosed IOPD patients and screened 93,365 subjects. Expert rules were formulated to identify potential high-risk IOPD patients based on their age, particular symptoms, and creatine kinase levels. The proposed approach was evaluated using accuracy, sensitivity, and specificity. The proposed approach accurately identified five true positives, one false negative, and four false positive IOPD cases. The false negative case involved a patient with both Pompe disease and congenital heart disease. The focus on CHD led to the overlooking of Pompe disease, exacerbated by no measurement of creatine kinase. The false positive cases were diagnosed with Mitochondrial DNA depletion syndrome 12-A ( SLC25A4 gene), Immunodeficiency-71 ( ARPC1B mutation), Niemann–Pick disease type C ( NPC1 gene mutation leading to frameshift), and Group B Streptococcus meningitis. The proposed approach of integrating expert rules with a dashboard facilitated efficient data visualization and automated patient screening, which aids in the early detection of Pompe disease. Future studies are encouraged to investigate the application of machine learning methodologies to enhance further the precision and efficiency of identifying patients with IOPD.

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Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region

Cited by 4 publications

References 32 publications

The Importance of Early Treatment of Inherited Neuromuscular Conditions

The Importance of Early Treatment of Inherited Neuromuscular Conditions

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records

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