Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management

Bolano-Diaz, Carla; Díaz‐Manera, Jordi

doi:10.2147/tcrm.s334232

Cited by 11 publications

(13 citation statements)

References 67 publications

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“…[20] Ten zmienny fenotyp charakteryzuje się jednak zwykle typowym pojawieniem się osłabienia mięśni osiowych, oddechowych oraz obręczy miednicy co skutkuje różnego stopnia niepełnosprawnością . [21] Szeroki zakres tych objawów powoduje jeszcze większe trudności w rozpoznaniu a także w efektywnych terapiach i zapewnieniu jak największego komfortu pacjentom.…”

Section: Manifestacje Kliniczne Choroby Pompegounclassified

“…[9] Jednak coraz szersze wprowadzanie tego testu skriningowego u noworodków pozwala także na identyfikację pacjentów bez objawów chorobowych, co umożliwia rozpoczęcie procesu monitorowania i terapii na jak najwcześniejszym etapie. [21] Standardowo biopsja mięśnia przy wczesnym podejrzeniu wystąpienia PD nie jest zalecana, jednak pozwala dostarczyć cennych informacji o chorobie. Morfologia mięsni u pacjentów z IOPD jest zwykle jednorodna, brak jest normalnych włokien a architektura mięśnia jest w większości utracona.…”

Section: Tabela 1charakterystyczne Objawy Kliniczne Pacjentów Z Pd Z ...unclassified

“…Poprzez hamowanie enzymu syntazy glikogenu przez opracowaną cząsteczkę MZE001 ( małocząsteczkowy inhibitor syntazy glikogeny mięśniowego) obniżono ilość akumulowanego glikogenu i uszkodzenia mięśni u myszy. W 2022 roku rozpoczęto badanie 1 fazy nad bezpieczeństwem zastosowania tej strategii u zdrowych ludzi [21]. Badacze naukowi postanowili także pójść nieco dalej i zbadać możliwości terapeutyczne ERT wewnątrzmacicznie w imię zasady im wcześniej , tym lepiej.…”

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“…Po zbadaniu jej stanu wykazano brak jakichkolwiek oznak kardiomiopatii, prawidłowe wyniki badań laboratoryjnych i stosowne do wieku zdolności motoryczne. Wykazano także szybszy spadek miana przeciwciał przeciwko dostarczanemu enzymowi niż w historycznej grupie kontrolnej [21]. Ważną kwestią w możliwych kwestiach przyszłych form terapii jest także jej skuteczność w przenikaniu do OUN i omijaniu bariery krew-mózg, co pozwoliło by na hamowanie i możliwą redukcję stopnia uszkodzeń, szczególnie u najmłodszych pacjentów.…”

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Pompe disease - What do we currently know about the disease?

Białowąs

Mazurek²,

Aghadi³

et al. 2023

J Educ Health Sport

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Introduction: Pompe disease (PD) is a rare metabolic disorder caused by a partial or complete deficiency of acid α-glucosidase (GAA) which leads to lysosomal accumulation of glycogen. Excessive amounts of glycogen accumulate mainly in the cells of the heart and skeletal muscles and cause dysfunction of these tissues. It is inherited in an autosomal recessive manner. The most common diagnostic methods include genetic tests and the measurement of enzyme activity in leukocytes or fibroblasts. A screening test is also available that tests the enzyme activity in dried blood spot (DBS). The treatment of PD is mostly based on synthetic GAA enzyme supply to the patients. The therapy reduces glycogen storage and improves muscle function, decreases heart size and prolongs the lives of those with infantile form of PD. In the adult onset of the disease treatment increases physical efficiency and reduces the progression of respiratory failure. Aim of the study: Systematization of current knowledge about Pompe disease with particular emphasis on possible clinical presentations, diagnostics and therapeutic options. Material and methods: Literature review based on PubMed data using the following keywords: Pompe disease, Glycogenosis type ii, glucosidase alpha Summary : Pompe disease is a rare disease with many problems related to diagnosis and possible therapies. Its symptoms can be very misleading and cause a delay in diagnosis . It is critical to start the therapy as soon as possible to best manage the disease. The prognosis of PD is poor, especially in children under 12 months of age. Gene therapy research is currently underway and early results are very promising. There is still much to learn about dealing with this disease.

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Section: Manifestacje Kliniczne Choroby Pompegounclassified

Section: Tabela 1charakterystyczne Objawy Kliniczne Pacjentów Z Pd Z ...unclassified

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Pompe disease - What do we currently know about the disease?

Białowąs

Mazurek²,

Aghadi³

et al. 2023

J Educ Health Sport

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“…In PD patients, early diagnosis and early treatment have shown to be essential for a better outcome of patients [ 55 , 56 , 57 , 58 ]. Also, different factors (e. g., age at start of treatment, CRIM (cross-reactive immune material) status, extra lysosomal glycogen accumulation in muscle) are thought to be correlated with the high variability of response to ERT in PD patients [ 14 , 35 , 59 , 60 , 61 , 62 ]. Additionally, there is a current need to develop newer and more sensitive biomarkers related to disease burden, disease progression, optimal time to initiate ERT and response to current treatments [ 26 , 63 , 64 , 65 , 66 , 67 ].…”

Section: Introductionmentioning

confidence: 99%

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

Gómez-Cebrián,

Gras-Colomer,

Poveda Andrés

et al. 2023

Biology

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Lysosomal storage disorders (LSDs) constitute a large group of rare, multisystemic, inherited disorders of metabolism, characterized by defects in lysosomal enzymes, accessory proteins, membrane transporters or trafficking proteins. Pompe disease (PD) is produced by mutations in the acid alpha-glucosidase (GAA) lysosomal enzyme. This enzymatic deficiency leads to the aberrant accumulation of glycogen in the lysosome. The onset of symptoms, including a variety of neurological and multiple-organ pathologies, can range from birth to adulthood, and disease severity can vary between individuals. Although very significant advances related to the development of new treatments, and also to the improvement of newborn screening programs and tools for a more accurate diagnosis and follow-up of patients, have occurred over recent years, there exists an unmet need for further understanding the molecular mechanisms underlying the progression of the disease. Also, the reason why currently available treatments lose effectiveness over time in some patients is not completely understood. In this scenario, characterization of the metabolic phenotype is a valuable approach to gain insights into the global impact of lysosomal dysfunction, and its potential correlation with clinical progression and response to therapies. These approaches represent a discovery tool for investigating disease-induced modifications in the complete metabolic profile, including large numbers of metabolites that are simultaneously analyzed, enabling the identification of novel potential biomarkers associated with these conditions. This review aims to highlight the most relevant findings of recently published omics-based studies with a particular focus on describing the clinical potential of the specific metabolic phenotypes associated to different subgroups of PD patients.

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Precise subcellular targeting approaches for organelle-related disorders

Shim,

Youn

2024

Advanced Drug Delivery Reviews

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Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management

Cited by 11 publications

References 67 publications

Pompe disease - What do we currently know about the disease?

Pompe disease - What do we currently know about the disease?

Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

Precise subcellular targeting approaches for organelle-related disorders

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