Completion of phase 2b trial of etranacogene dezaparvovec gene therapy in patients with hemophilia B over 5 years

Abstract: Etranacogene dezaparvovec (CSL222, formerly AMT-061) is a recombinant adeno-associated virus serotype 5 (AAV5) vector containing the highly active factor IX (FIX) Padua variant controlled by a liver-specific promoter. This phase 2b, open-label, single-dose, single-arm, multicenter trial ev...

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Main Authors: Annette von Drygalski, Esteban Gomez, Adam Giermasz, Giancarlo Castaman, Nigel S. Key, Susan U. Lattimore, Frank W. G. Leebeek, Wolfgang A. Miesbach, Michael Recht, Paul E. Monahan, Sandra Le Quellec, Steven W. Pipe
Format: Article
Language:English
Published: Elsevier 2025-07-01
Series:Blood Advances
Online Access:http://www.sciencedirect.com/science/article/pii/S2473952925002022
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Summary:Abstract: Etranacogene dezaparvovec (CSL222, formerly AMT-061) is a recombinant adeno-associated virus serotype 5 (AAV5) vector containing the highly active factor IX (FIX) Padua variant controlled by a liver-specific promoter. This phase 2b, open-label, single-dose, single-arm, multicenter trial evaluated the efficacy and safety of etranacogene dezaparvovec. Three adult participants with severe or moderately severe hemophilia B (FIX ≤2%) and AAV5-neutralizing antibodies received a single IV dose (2 × 1013 genome copies per kg) of etranacogene dezaparvovec. The primary end point of FIX activity ≥5 IU/dL at 6 weeks was met (mean, 30.6 IU/dL). Secondary end points included bleed frequency, FIX concentrate use, and adverse events. Here, we report the end-of-study 5-year outcomes. After administration, mean (range) FIX activity increased to 40.8 IU/dL (31.3-50.2) at year 1 and was maintained at 45.7 IU/dL (39.0-51.2) at year 5. Mean annualized bleeding rate (all bleeds) was 0.14 for the cumulative follow-up period years 0 to 5. Two participants had 5 bleed-free years after treatment. Per protocol, 1 participant received episodic FIX replacement therapy after treatment for elective surgeries, 2 bleeding episodes, and 2 single self-administered infusions for unreported reasons. All participants discontinued and remained free of FIX prophylaxis. During the 5-year study period, there were no clinically significant elevations in liver enzymes, requirement for steroids, FIX inhibitor development, thrombotic complications, or late-emergent safety events in any participant. Five years after administration, etranacogene dezaparvovec was effective in adults with hemophilia B with a favorable safety profile. Participants are eligible to participate in an extension study (ClinicalTrials.gov identifier: NCT05962398) for 10-year additional follow-up. This trial was registered at www.clinicaltrials.gov as #NCT03489291.
ISSN:2473-9529