Published April 9, 2024
| Version v1
Journal article
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study
Creators
Contributors
Others:
- Lille Neurosciences & Cognition - U 1172 (LilNCog) ; Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [CHU Lille] (CHRU Lille)
- Hospices Civils de Lyon (HCL)
- Service de neurologie [CHRU Nancy] ; Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)
- CHU Caen ; Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)
- Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)
- Centre Hospitalier Universitaire [CHU Grenoble] (CHUGA)
- Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)
- Université Côte d'Azur (UniCA)
- Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)
- Lymphocytes B, Autoimmunité et Immunothérapies (LBAI) ; Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-LabEX IGO Immunothérapie Grand Ouest ; Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Institut Brestois Santé Agro Matière (IBSAM) ; Université de Brest (UBO)
- Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes)
- Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
- Centre Hospitalier Universitaire de Nîmes (CHU Nîmes)
- Université de Montpellier (UM)
- Centre Hospitalier Universitaire de Nancy (CHU Nancy)
- Hôpital Raymond Poincaré [AP-HP]
- Centre de référence des maladies rares neuromusculaires ; Centre Hospitalier Régional Universitaire [CHU Lille] (CHRU Lille)
- Marseille medical genetics - Centre de génétique médicale de Marseille (MMG) ; Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
- CHU Pitié-Salpêtrière [AP-HP] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
- Centre Hospitalier Universitaire d'Angers (CHU Angers) ; PRES Université Nantes Angers Le Mans (UNAM)
Description
IntroductionLate-onset Pompe disease (LOPD) is characterized by a progressive myopathy resulting from a deficiency of acid α-glucosidase enzyme activity. Enzyme replacement therapy has been shown to be effective, but long-term treatment results vary. Avalglucosidase alfa demonstrated non-inferiority to alglucosidase alfa in a phase 3 study, allowing in France compassionate access for advanced LOPD patients unresponsive to alglucosidase alfa.MethodsData from the French Pompe registry were analyzed for patients who benefited from a switch to avalglucosidase alfa with at least 1 year of follow-up. Respiratory (forced vital capacity [FVC]) and motor functions (Six-Minute Walk Test [6MWT]) were assessed before and 1 year after switching. Individual changes in FVC and 6MWT were expressed as slopes and statistical analyses were performed to compare values.ResultsTwenty-nine patients were included (mean age 56 years, 11 years of prior treatment). The FVC and 6MWT values remained stable. The individual analyses showed a stabilization of motor worsening: –1 m/year on the 6MWT after the switch versus –63 m/year the year before the switch (i.e., a worsening of 33%/year before vs. an improvement of 3%/year later). Respiratory data were not statistically different.DiscussionAt the group level, gait parameters improved slightly with a stabilization of previous worsening, but respiratory parameters showed limited changes. At the individual level, results were discordant, with some patients with a good motor or respiratory response and some with further worsening.ConclusionSwitching to avalglucosidase alfa demonstrated varied responses in advanced LOPD patients with failing alglucosidase alfa therapy, with a general improvement in motor stabilization.
Abstract
International audienceAdditional details
Identifiers
- URL
- https://hal.univ-lille.fr/hal-04688677
- URN
- urn:oai:HAL:hal-04688677v1