ライフサイエンスコーパス: Pompe disease

1 ement of G6Pase in GSD Ia and GAA in GSD II (Pompe disease).

2 ial benefits over the current treatments for Pompe disease.

3 in combination with ERT, for infantile-onset Pompe disease.

4 leterious effects on muscle fiber atrophy in Pompe disease.

5 d as a next-generation approach for treating Pompe disease.

6 lustat, an enzyme stabiliser) for late-onset Pompe disease.

7 lucosidase alfa, in patients with late-onset Pompe disease.

8 ratory function in the Gaa(-/-) rat model of Pompe disease.

9 treatment of diabetes, viral infections, and Pompe disease.

10 scle and the nervous system for treatment of Pompe disease.

11 sful correction of neuromuscular function in Pompe disease.

12 (GAA) has achieved only partial efficacy in Pompe disease.

13 xial weakness it may raise the suspicion for Pompe disease.

14 sis and differential diagnosis of late-onset Pompe disease.

15 (GAA), the enzyme deficient in patients with Pompe disease.

16 mal initial test for confirming or excluding Pompe disease.

17 Deficiency of GAA causes Pompe disease.

18 ciated virus-mediated gene-based therapy for Pompe disease.

19 ing for the development of new therapies for Pompe disease.

20 targeting muscle alone may be ineffective in Pompe disease.

21 of 21 patients with enzymatically confirmed Pompe disease.

22 oratories to help establish the diagnosis of Pompe disease.

23 e disease type II (GSDII) variants including Pompe disease.

24 of correcting fibroblasts from patients with Pompe disease.

25 ing enzyme, the deficiency of which leads to Pompe disease.

26 ome the new standard treatment in late-onset Pompe disease.

27 erall population of patients with late-onset Pompe disease.

28 ing therapeutic alternative to Miglustat for Pompe disease.

29 nical development of AAV8-LSPhGAA therapy in Pompe disease.

30 ls but was strongly induced in patients with Pompe disease.

31 yme for glycogen hydrolysis and treatment of Pompe disease.

32 genase deficiency, adrenoleukodystrophy, and Pompe disease.

33 VZV) egress in a cell line from a child with Pompe disease, a glycogen storage disease caused by a de

34 Pompe disease, a glycogen storage disease caused by muta

35 ation of glycogen in lysosomes, resulting in Pompe disease, a lysosomal storage disorder.

36 Pompe disease, a rare genetic neuromuscular disorder, is

37 For example, for the therapy of Pompe disease, a severe metabolic myopathy and cardiomyo

38 hy (DMD), spinal muscular atrophy (SMA), and Pompe disease (acid maltase deficiency [AMD]), are candi

39 The diagnosis of Pompe disease (acid maltase deficiency, glycogen storage

40 udy of albuterol in patients with late-onset Pompe disease already on ERT for >2 yr, who were not imp

41 Pompe disease, an autosomal recessive disorder caused by

42 ficacy of ERT in CRIM-negative patients with Pompe disease and in patients with other lysosomal stora

43 normal or only mildly elevated in late-onset Pompe disease and is not very helpful alone to suggest t

44 derway for AEFs in the treatment of the GSDs Pompe disease and Lafora disease (LD).

45 Increased cTnT levels in Pompe disease and likely other neuromuscular disorders s

46 may be a promising therapeutic approach for Pompe disease and other glycogen storage diseases.

47 ment therapy to correct enzyme deficiency in Pompe disease and SGLT2 inhibitors for neutropenia and n

48 ew mechanistic insight into the pathology of Pompe disease and suggest that early systemic correction

49 ge diseases: Gaucher disease, Fabry disease, Pompe disease and the mucopolysaccharidoses.

50 sence of genotype confirmation of late-onset Pompe disease and were excluded from analysis.

51 d uptake and trafficking of GAA in mice with Pompe disease, and a similarly enhanced benefit might be

52 were aged 18 years or older with late-onset Pompe disease, and had either been receiving alglucosida

53 e development of a gene therapy strategy for Pompe disease, and have led to the first clinical trial

54 Elevated plasma cTnT levels in patients with Pompe disease are associated with skeletal muscle damage

55 ages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal s

56 ment therapy (ERT) is the only treatment for Pompe disease but remains expensive, inconvenient, and d

57 inant GAA is the only approved treatment for Pompe disease, but it requires frequent infusions, and e

58 ceiving enzyme replacement therapy (ERT) for Pompe disease, but the prevalence of ERT-induced renal c

59 Pompe disease can be treated with systemic recombinant h

60 In a mouse model of Pompe disease, chronic oral administration of MZ-101 alo

61 in an induced pluripotent stem cell model of Pompe disease expressed the corrected transcript from bo

62 nhance lysosomal alpha-glucosidase levels in Pompe disease fibroblasts, either when administered sing

63 id-alpha-glucosidase during ERT in mice with Pompe disease following addition of albuterol therapy.

64 One disorder, Pompe Disease (Glycogen storage disease type II (GSDII))

65 number of pathological conditions including Pompe disease (glycogen storage disease type II), which

66 Enzyme replacement in Pompe disease has proved successful, improving outcome i

67 Pompe disease has resisted enzyme replacement therapy wi

68 al studies of enzyme replacement therapy for Pompe disease have indicated that relatively high doses

69 erapy to reverse the pathological effects of Pompe disease in a preclinical mouse model.

70 ho succumbed to respiratory complications of Pompe disease in the first week, only mild adverse event

71 case of datasets for both Fabry disease and Pompe disease, in line with previous findings.

72 We have also found that Pompe disease involves induction of autophagy but manife

73 Infantile-onset Pompe Disease (IOPD), caused by mutations in lysosomal a

74 Han Chinese ancestry, causes infantile-onset Pompe disease (IOPD), presenting neonatally with severe

75 d to ascertain whether autophagic buildup in Pompe disease is a consequence of induction of autophagy

76 Infantile Pompe disease is a fatal genetic muscle disorder caused

77 Pompe disease is a rare disorder characterised by progre

78 Pompe disease is a rare, progressive neuromuscular disor

79 Pompe disease is a severe form of muscular dystrophy due

80 Pompe disease is a systemic metabolic disorder character

81 Infantile-onset Pompe disease is an autosomal recessive disorder caused

82 Pompe disease is an autosomal recessive lysosomal storag

83 Pompe disease is an autosomal recessive metabolic myopat

84 Pompe disease is caused by acid alpha-glucosidase (GAA)

85 Pompe disease is caused by mutations in the GAA gene, re

86 eased awareness of the clinical phenotype of Pompe disease is therefore warranted to expedite diagnos

87 timely and accurate diagnosis of late-onset Pompe disease likely will improve patient outcomes as ca

88 Late-onset Pompe disease (LOPD) is a rare genetic disorder caused b

89 Late-onset Pompe disease (LOPD) is a rare genetic disorder produced

90 dy (NCT03533673) in patients with late-onset Pompe disease (LOPD).

91 reflects inspiratory weakness in late-onset Pompe disease (LOPD).

92 l efficacy of enzyme replacement therapy for Pompe disease may be improved.

93 Transgenic animal models of Pompe disease mirroring the patient phenotype have been

94 er pharmacokinetic evaluation and testing in Pompe disease models.

95 Data generated in both wild-type mice and a Pompe disease mouse model demonstrate that single-cycle,

96 ive vacuolar myopathy to identify late-onset Pompe disease often leads to false-negative results and

97 ctive next generation therapy for late-onset Pompe disease or, in combination with ERT, for infantile

98 alteration of NMJ physiology contributes to Pompe disease pathology; we performed molecular, physiol

99 well as a detailed analysis of the CNS in a Pompe disease patient.

100 ed on GAA activity enhancement in cells from Pompe disease patients and in vivo in GAA-KO mice.

101 e an improved enzyme replacement therapy for Pompe disease patients.

102 Using Pompe disease (PD) as an example, we show that targeted

103 Pompe disease (PD) is a metabolic myopathy due to acid a

104 Pompe disease (PD) is a rare autosomal recessive glycoge

105 Pompe disease (PD) is a severe neuromuscular disorder ca

106 ology of the neuromuscular junction (NMJ) in Pompe disease, reflecting disruption of neuronal and mus

107 ognized in a variety of disorders, including Pompe disease, the genetic deficiency of the glycogen-de

108 In 122 patients with Pompe disease, the relationship between cTnT, cardiac tr

109 l aspects of breathing in 2 animal models of Pompe disease--the Gaa(-/-) mouse and a transgenic line

110 broblasts from patients with infantile-onset Pompe disease to generate induced pluripotent stem (iPS)

111 on by AAV9 gene transfer in a mouse model of Pompe disease via ECG tracings and that intravenous deli

112 defective enzyme in patients suffering from Pompe disease, was investigated to identify pharmacologi

113 acement therapy with alglucosidase alpha for Pompe disease, we highlight these paradoxical effects.

114 n and enhanced efficacy from gene therapy in Pompe disease, which has implications for other lysosoma

115 Pompe disease, which results from mutations in the gene

116 lbuterol therapy in patients with late-onset Pompe disease who had been stable on ERT with no improve

117 ars) with enzymatically confirmed late-onset Pompe disease who had never received treatment.

118 alpha-glucosidase (GAA) leads to early onset Pompe disease with cardiorespiratory and neuromuscular f