Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

Hsueh, Chien-Yu; Huang, Chii-Yuan; Yang, Chia‐Feng; Chang, Cheng-Jong; Lin, Wei; Cheng, Hsiu-Lien; Wu, Shang-Liang; Niu, Dau‐Ming

doi:10.1186/s13023-021-01817-1

Cited by 8 publications

(7 citation statements)

References 36 publications

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“…Recently, the MUNIX (motor unit number index) has been shown to be an useful electrophysiological biomarker for disease progression in pediatric spinal muscular atrophy and for treatment response [30]. Korlimarla et al [31] recently [9,13,16,32]. A recent study suggests that earlier initiation of ERT within 2 weeks after birth appears to contribute to an improvement in hearing function [32].…”

Section: Discussionmentioning

confidence: 99%

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Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

Tardieu,

Cudejko,

Cano

et al. 2023

Euro J of Neurology

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Background Classical infantile‐onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long‐term outcomes. Methods We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020. Results Sixty‐four patients were identified. At diagnosis (median age 4 months) all patients had cardiomyopathy and most had severe hypotonia (57 of 62 patients, 92%). ERT was initiated in 50 (78%) patients and stopped later due to being ineffective in 10 (21%). Thirty‐seven (58%) patients died during follow‐up, including all untreated and discontinued ERT patients, and 13 additional patients. Mortality was higher during the first 3 years of life and after the age of 12 years. Persistence of cardiomyopathy during follow‐up and/or the presence of heart failure were highly associated with an increased risk of death. In contrast, cross‐reactive immunologic material (CRIM)‐negative status (n = 16, 26%) was unrelated to increased mortality, presumably because immunomodulation protocols prevent the emergence of high antibody titers to ERT. Besides survival, decreased ERT efficacy appeared after the age of 6 years, with a progressive decline in motor and pulmonary functions for most survivors. Conclusions This study reports the long‐term follow‐up of one of the largest cohorts of classical IOPD patients and demonstrates high long‐term mortality and morbidity rates with a secondary decline in muscular and respiratory functions. This decreased efficacy seems to be multifactorial, highlighting the importance of developing new therapeutic approaches targeting various aspects of pathogenesis.

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Section: Discussionmentioning

confidence: 99%

“…Korlimarla et al [31] recently [9,13,16,32]. A recent study suggests that earlier initiation of ERT within 2 weeks after birth appears to contribute to an improvement in hearing function [32].…”

Section: Discussionmentioning

confidence: 99%

Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

Tardieu,

Cudejko,

Cano

et al. 2023

Euro J of Neurology

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“…The ABR waveforms were analyzed, and the latency of peak V was defined and adjusted by an experienced pediatric neurologist or otolaryngologist. The degree of hearing loss was classified as normal (<25 and ≤35 dB nHL) and abnormal, including mild (>35 and ≤45 dB nHL), moderate (>45 and ≤65 dB nHL), severe (>65 and ≤90 dB nHL), or profound (>90 dB nHL) [ 48 , 49 ].…”

Section: Methodsmentioning

confidence: 99%

Early Blood Glucose Level Post-Admission Correlates with the Outcomes and Oxidative Stress in Neonatal Hypoxic-Ischemic Encephalopathy

2021

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The antioxidant defense system is involved in the pathogenesis of neonatal hypoxic-ischemic encephalopathy (HIE). To analyze the relationship between first serum blood glucose levels and outcomes in neonatal HIE, seventy-four patients were divided, based on the first glucose level, into group 1 (>0 mg/dL and <60 mg/dL, n =11), group 2 (≥60 mg/dL and <150 mg/dL, n = 49), and group 3 (≥150 mg/dL, n = 14). Abnormal glucose levels had poor outcomes among three groups in terms of the clinical stage (p = 0.001), brain parenchymal lesion (p = 0.004), and neurodevelopmental outcomes (p = 0.029). Hearing impairment was more common in group 3 than in group 1 (p = 0.062) and group 2 (p = 0.010). The MRI findings of group 3 exhibited more thalamus and basal ganglion lesions than those of group 1 (p = 0.012). The glucose level was significantly correlated with clinical staging (p< 0.001), parenchymal brain lesions (p = 0.044), hearing impairment (p = 0.003), and neurodevelopmental outcomes (p = 0.005) by Pearson’s test. The first blood glucose level in neonatal HIE is an important biomarker for clinical staging, MRI findings, as well as hearing and neurodevelopment outcomes. Hyperglycemic patients had a higher odds ratio for thalamus, basal ganglia, and brain stem lesions than hypoglycemic patients with white matter and focal ischemic injury. Hyperglycemia can be due to prolonged or intermittent hypoxia and can be associated with poor outcomes.

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“…A closer follow-up is required for patients with cardiac diseases. The physician should be attentive in testing for the hearing status associated with the disease intervening promptly if any hearing impairment is noticed ( 82 ). CK and liver function tests should be measured every 6–12 months.…”

Section: Follow-upsmentioning

confidence: 99%

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

et al. 2021

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Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing.Objective: This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities.Methods: A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members.Conclusion: Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.

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Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy

Cited by 8 publications

References 36 publications

Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

Early Blood Glucose Level Post-Admission Correlates with the Outcomes and Oxidative Stress in Neonatal Hypoxic-Ischemic Encephalopathy

Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus

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