Search Results

Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.

• Authors : Kishnani, Priya; Byrne, Barry; Claeys, Kristl

Subjects: Health-related quality of life; Patient-reported Outcome Measurement Information System; Patient-reported outcomes

• Source: Journal of Patient-Reported Outcomes. 8(1)

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Comparing the efficacy of cipaglucosidase alfa plus miglustat with other enzyme replacement therapies for late-onset Pompe disease: a network meta-analysis utilizing patient-level and aggregate data.

• Authors : Shohet, Simon; Hummel, Noemi; Fu, Shuai

Subjects: Pompe disease; cipaglucosidase alfa; indirect treatment comparison

• Source: Journal of Comparative Effectiveness Research. 13(10)

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Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials.

• Authors : Mozaffar, Tahseen; Riou França, Lionel; Msihid, Jérôme

Subjects: Alglucosidase alfa; Avalglucosidase alfa; Enzyme replacement therapy

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Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

• Authors : Moschetti, Marta¹ (AUTHOR) ; Venezia, Marika¹ (AUTHOR) ; Giacomarra, Miriam¹ (AUTHOR)

Subjects: *GLYCOGEN storage disease type II; *ENZYME deficiency; *ENZYME replacement therapy

• Source: International Journal of Molecular Sciences. Jan2025, Vol. 26 Issue 2, p757. 15p.

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Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes

• Authors : Mohamed Abdelghafar Hussein; Heba ElTaher; Ranim Mahmoud

Subjects: Pompe disease; Genotypes; Cardiac magnetic resonance imaging (CMR)

• Source: Italian Journal of Pediatrics, Vol 51, Iss 1, Pp 1-8 (2025)

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Real-world evidence for Pompe disease remains fragmented. Comment on 'A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem' by Klein et al.

• Authors : Michelle E. Kruijshaar; Tiffany House; Benedikt Schoser

Subjects: Rare disease registries; Real-world evidence; Pompe disease

• Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-4 (2025)

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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)

• Authors : Dawn A. Laney; Kayla A. Banks; Eleanor G. Botha

Subjects: Risk assessment; Genetic testing; Complex disease

• Source: Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-8 (2025)

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A Global Prospective Observational Registry of Patients With Pompe Disease

• Source: A Global Prospective Observational Registry of Patients With Pompe Disease

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A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease

• Source: A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients With Late-Onset Pompe Disease

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Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen (APOLLO-LOPD)

• Source: A Single Arm, Prospective, Open-label, Multi-center Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe

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