Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

Heras, Javier de las; Cano, Ainara; Vinuesa, Ana; Montes, M. Cervera; Suarez, María Unceta; Arza, Arantza; Jiménez, S Juan Carlos; Vera, Elena; Hoyo, Marta del; Gendive, Miriam; Aguirre, L Velles; Muñoz, Gisela; Fernández, Javier; Ruiz-Espinoza, C; Fernández, María Angeles; Galdeano, José Miguel; Rodríguez, Irene López; Román, Lourdes; Rodríguez-Serna, Amaya; Loureiro, Begoña; Astigarraga, Itziar

doi:10.3390/children8111026

“…Patients treated after 12 months of age had higher survival rates (90.9%) than those treated earlier (50.1%), but this reflected the high risk of death in the first year of life for patients with IOPD [131]. In addition to these studies, the value of early treatment on cardiac, biological (e.g., CK levels) and motor outcomes was further supported by case reports and small case series [125,132]. Additionally, the correlation found between cognitive and motor development in an IOPD cohort treated before 6 months of age suggests early treatment's impact on neurocognitive development [133].…”

Section: Early Treatment In Infantile-onset Pompe Diseasementioning

confidence: 95%

The Importance of Early Treatment of Inherited Neuromuscular Conditions

Mackels,

Servais

2024

Journal of Neuromuscular Diseases

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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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“…Combining therapies may also be considered for optimal outcomes, such as using next-generation ERTs for peripheral symptoms and intrathecal administration of gene therapy for neuronal aspects. Continual development of more effective therapies is necessary to properly manage Pompe disease and provide treatment options for patients [39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57].…”

Section: Am J Biomed Sci and Resmentioning

confidence: 99%

Untitled

2023

AJBSR

0

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Pompe disease, acid maltase disease, is a rare, autosomal recessive inherited metabolic disorder from the group of lysosomal storage diseases, which is based on a genetically caused deficiency of an enzyme and is treatable by substitution of this enzyme. Pompe disease is also known as myopathy due to acid maltase deficiency, α-1,4-glucosidase deficiency or acid α-glucosidase deficiency, glycogen storage disease type II or glycogenosis type II. It is inherited in an autosomal recessive manner. When each parent carries one copy of the mutated gene the child will be affected by Pompe disease. Pompe disease is one of the metabolic myopathies and is a glycogen storage disease. The incidence of Pompe disease is estimated to be approximately 1:40,000-1:200000. The disease is due to a genetic deficiency or complete absence of the lysosomal Enzyme Acid α-glucosidase. GAA degrades glycogen to glucose, particularly in the lysosomes of muscle tissue. Due to the lack of enzyme, glycogen derived from autophagy accumulates in the lysosomes. As with other lysosomal storage diseases, the cells are affected in their function first, and increasingly as the disease progresses, the entire muscle tissue is affected. Once damage has occurred, it is usually irreversible. Three different types are known, an infantile form (IOPD), a non-classic IOPD without cardiac involvement and a late onset LOPD. IOPD patients show a GAA enzymatic activity of 1-3 %, in LOPD patients an enzyme activity of 2-40 % of GAA is present. Diagnosis will be confirmed by GAA enzyme analysis prenatally in amniotic fluid and postnatally by alpha 1-4 glucosidase activity in the blood. The later the disease appears the better it can be treated. This manuscript focuses on the present therapeutical options to treat Pompe disease in children and shed light on present molecular research curing the disease.

show abstract

“…Combining therapies may also be considered for optimal outcomes, such as using next-generation ERTs for peripheral symptoms and intrathecal administration of gene therapy for neuronal aspects. Continual development of more effective therapies is necessary to properly manage Pompe disease and provide treatment options for patients [39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57].…”

Section: Am J Biomed Sci and Resmentioning

confidence: 99%

What is the Clue to Cure Pompe Disease in Childhood?

Bittmann

2023

AJBSR

0

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Pompe disease, acid maltase disease, is a rare, autosomal recessive inherited metabolic disorder from the group of lysosomal storage diseases, which is based on a genetically caused deficiency of an enzyme and is treatable by substitution of this enzyme. Pompe disease is also known as myopathy due to acid maltase deficiency, α-1,4-glucosidase deficiency or acid α-glucosidase deficiency, glycogen storage disease type II or glycogenosis type II. It is inherited in an autosomal recessive manner. When each parent carries one copy of the mutated gene the child will be affected by Pompe disease. Pompe disease is one of the metabolic myopathies and is a glycogen storage disease. The incidence of Pompe disease is estimated to be approximately 1:40,000-1:200000. The disease is due to a genetic deficiency or complete absence of the lysosomal Enzyme Acid α-glucosidase. GAA degrades glycogen to glucose, particularly in the lysosomes of muscle tissue. Due to the lack of enzyme, glycogen derived from autophagy accumulates in the lysosomes. As with other lysosomal storage diseases, the cells are affected in their function first, and increasingly as the disease progresses, the entire muscle tissue is affected. Once damage has occurred, it is usually irreversible. Three different types are known, an infantile form (IOPD), a non-classic IOPD without cardiac involvement and a late onset LOPD. IOPD patients show a GAA enzymatic activity of 1-3 %, in LOPD patients an enzyme activity of 2-40 % of GAA is present. Diagnosis will be confirmed by GAA enzyme analysis prenatally in amniotic fluid and postnatally by alpha 1-4 glucosidase activity in the blood. The later the disease appears the better it can be treated. This manuscript focuses on the present therapeutical options to treat Pompe disease in children and shed light on present molecular research curing the disease.

show abstract

Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

Cited by 6 publications

References 23 publications

The Importance of Early Treatment of Inherited Neuromuscular Conditions

The Importance of Early Treatment of Inherited Neuromuscular Conditions

Untitled

What is the Clue to Cure Pompe Disease in Childhood?

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