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

Abstract

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.

First-in-human case report: AAV9-hGAA gene therapy for a patient with infantile-onset Pompe disease

“…ERT was approved by the FDA in 2006 and is the only available treatment for Pompe disease by now. Albeit the ERT improved IOPD clinical outcomes, multiple factors including short enzyme turnover time in the blood requiring lifelong usage, low uptake efficiency in skeletal muscle cells, and preferential uptake in the liver leading to enzyme clearance, provide the limited efficiency of ERT 4,5 . By contrast, a single dose of an AAV-based drug may solve the aforementioned problems and achieve comparable and/or even better clinical effects.…”

Red flags to diagnose infiltrative cardiomyopathies

“…Для БФ укорочение интервалов PR на ЭКГ часто являются первыми (а иногда и единственными) признаками поражения сердца из-за уменьшения продолжительности зубца P [18]. Синдром Вольфа-Паркинсона-Уайта при наличии гипертрофии ЛЖ является скрининг-критерием диагностики болезни Данона [10] и болезни Помпе [19], тогда как при гипертрофической КМП (ГКМП) он встречается редко.…”

Current avenues of gene therapy in Pompe disease

“…Pompe disease is an autosomal recessive condition secondary to mutations in the acid-a-glucosidase (GAA) gene, responsible for lysosomal glycogen degradation [1]. Pompe disease has a predicted genetic prevalence of $1 : 10 000-30 000 based on newborn screening data but historically this ranged between 1 : 35 000 and 1 : 138 000, with a carrier frequency of 1 : 77 [2,3]. The disease results in pathologic accumulation of glycogen primarily in cardiac, skeletal and smooth muscle, and it was once considered a muscle disease, however, there is growing evidence of the impact in endothelial cells and motor neurons with glycogen deposition in the central nervous system (CNS), progressive neurodegeneration, vasculopathy and cognitive impairment, highlighting its multisystemic impact [4][5][6].…”