Conclusions of a long-term follow-up study in infantile Pompe disease

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In an article published in May 2023, a French team retrospectively analysed the outcome of 64 patients with a classic infantile form of Pompe disease diagnosed between 2004 and 2020:

  • 50 patients (78%) received enzyme replacement therapy with alglucosidase alfa, 10 of whom had to stop it because it was ineffective.
  • 37 patients (58%) died during follow-up at a median age of 13 months, including all 24 patients who had not been treated or who had stopped treatment,
  • the efficacy of enzyme treatment appears to diminish after the age of 6 years, with a progressive deterioration in motor and respiratory capacities observed in most survivors.
  • These results argue in favour of the development of new therapeutic approaches, but also of neonatal screening for Pompe disease. In this cohort, all the patients already had cardiomyopathy at the time of diagnosis (at a median age of four years) and 92% of them also had severe hypotonia.

 

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: a French real-life observational study. M Tardieu, C Cudejko, A Cano et al. Eur J Neurol. 2023 May 26.

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