Death following high-dose AAV9 gene therapy in a patient with advanced SMA-PME.

doi:10.1016/j.ymthe.2026.05.016

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Article

Death following high-dose AAV9 gene therapy in a patient with advanced SMA-PME.

Molecular therapy : the journal of the American Society of Gene Therapy - 5 Aug 2026

Boespflug-Tanguy Odile, Valent Arnaud, Rambaud Jérôme, Léger Pierre-Louis, Plu Isabelle, Seilhean Danielle, Frémeaux-Bacchi Véronique, Levade Thierry, Marinello Martina, Denard Jérôme, Derome Marion, Brun Pierre-Romain le, Guerchet Nicolas, Veron Philippe, Blatzer Michael, Fragnoud Romain, Prieto Laura, Corbel Tanguy, Knuchel-Legendre Nathalie, Beaurain Béatrice, Lelait Marielle, Sanz Manon, Abergel Katleen, Rivière Amanda, Buj-Bello Ana, Perret Gérald

Abstract excerpt

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is an ultra-rare, fatal autosomal-recessive disorder caused by ASAH1 mutations, with no curative treatment. We report the first-in-human intravenous administration of an AAV9 vector carrying the human ASAH1 coding sequence in a 15-year-old female with advanced SMA-PME (heterozygous ASAH1 c.456A>C and c.918-2A>G mutations). The patient presented...

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Identifiers

PMID: 42198847
DOI: 10.1016/j.ymthe.2026.05.016
PMCID: PMC13464153

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ASAH1

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