2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Long-Term Follow-Up of Cipaglucosidase Alfa/Miglustat in Ambulatory and Non-Ambulatory Patients with Pompe Disease: An Open-Label Phase I/II Study (ATB200-02)

Long-Term Follow-Up of Cipaglucosidase Alfa/Miglustat in Ambulatory and Non-Ambulatory Patients with Pompe Disease: An Open-Label Phase I/II Study (ATB200-02)

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The presented study, ATB200-02, aimed to evaluate the long-term efficacy and safety of cipaglucosidase alfa plus miglustat in ambulatory patients with Pompe disease. The study included ERT-experienced and ERT-naïve cohorts. <br /><br />In terms of motor function, both ERT-experienced and ERT-naïve cohorts showed durable improvements in the mean change in the MMT lower extremity score from baseline, which were generally maintained for up to 48 months of follow-up. <br /><br />Biomarker analysis showed that cipaglucosidase alfa plus miglustat was associated with mean reductions from baseline in plasma CK levels and urine Hex4 levels during the 48 months of follow-up. The decreases in CK and Hex4 levels were particularly notable in the ERT-naïve cohort. <br /><br />Regarding safety, the most common treatment-emergent adverse events (TEAEs) included falls, nasopharyngitis, arthralgia, headache, and diarrhea. Most TEAEs were mild or moderate and did not lead to study withdrawal. <br /><br />Overall, the study demonstrated that cipaglucosidase alfa plus miglustat provided sustained improvements in motor function and reductions in biomarker levels in ambulatory patients with Pompe disease. The safety profile of the therapy was consistent with previous reports for alglucosidase alfa.

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Presenting Author - Priya Kishnani, MD; Co-Author - Benedikt Schoser, MD; Co-Author - Drago Bratkovic, MD MBBS FRACP; Co-Author - Paula R. Clemens, MD; Co-Author - Ozlem Goker-Alpan, MD; Co-Author - Xue Ming, MD PhD; Co-Author - Mark Roberts, MD; Co-Author - Matthias Vorgerd, MD; Co-Author - Kumaraswamy Sivakumar, MD; Co-Author - Ans T. van der Ploeg, MD PhD; Co-Author - Mitchell Goldman, MD PhD; Co-Author - Jacquelyn Wright, MS; Co-Author - Fred Holdbrook, PhD; Co-Author - Vipul Jain, MS MBA; Co-Author - Sheela Sitaraman Das, PhD; Co-Author - Yasmine Wasfi, MD PhD; Co-Author - Tahseen Mozaffar, MD; Co-Author - Barry J. Byrne, MD PhD;

Meta Tag

Lysosomal Diseases

Metabolic Disorder

Musculoskeletal system

Respiratory System

Therapy

Co-Author Benedikt Schoser, MD

Co-Author Drago Bratkovic, MD MBBS FRACP

Co-Author Paula R. Clemens, MD

Co-Author Ozlem Goker-Alpan, MD

Co-Author Xue Ming, MD PhD

Co-Author Mark Roberts, MD

Co-Author Matthias Vorgerd, MD

Co-Author Kumaraswamy Sivakumar, MD

Co-Author Ans T. van der Ploeg, MD PhD

Co-Author Mitchell Goldman, MD PhD

Co-Author Jacquelyn Wright, MS

Co-Author Fred Holdbrook, PhD

Co-Author Vipul Jain, MS MBA

Co-Author Sheela Sitaraman Das, PhD

Co-Author Yasmine Wasfi, MD PhD

Co-Author Tahseen Mozaffar, MD

Co-Author Barry J. Byrne, MD PhD

Presenting Author Priya Kishnani, MD

Keywords

ATB200-02

long-term efficacy

safety

cipaglucosidase alfa

miglustat

ambulatory patients

Pompe disease

motor function

biomarker analysis

adverse events