Researchers from Germany reported the case of a patient with infantile-onset Pompe disease whose clinical condition “improved dramatically” with cipaglucosidase alfa/miglustat treatment.

This is the first clinical application of the new enzyme replacement therapy (ERT) in a child with the disease. 

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The condition of the patient worsened seriously even with high-dose standard-of-care ERT. The researchers reported that changing the therapy to the new ERT improved respiratory failure, cardiomyopathy, and motor functions.

“The patient could be weaned from respiratory support and oxygen supplementation. Cardiac function was normalized,” they wrote in a report published in the journal Pharmaceuticals. “Most impressively, the patient, who had lost nearly all motor skills, acquired head control, learned to speak, and could move his wheelchair by himself.”

The patient was diagnosed with Pompe disease at 6 months of age, at which time cardiac involvement was already present. ERT with alglucosidase alfa was started in the 7th month of his life and was continued until he was 15 months old. Cipaglucosidase alfa/miglustat treatment started right after under the Expanded Access Program of Amicus, the developers of the treatment on a single-patient compassionate use basis.

“This case is encouraging for the future and gives hope that the therapy of lysosomal storage diseases will even further improve in the future,” the authors concluded.

Cipaglucosidase alfa, marketed under the brand name Pombiliti®, is a recombinant human acid alpha-glucosidase (GAA) enzyme, the lysosomal enzyme deficient in Pompe disease. It has a higher content of mannose-6-phosphate residues necessary for efficient cellular uptake and lysosomal targeting. Miglustat, marketed under the brand name Opfolda®, is an oral enzyme stabilizer designed to reduce the loss of enzyme activity in the blood.

Pombiliti plus Opfolda treatment is approved in the European Union to treat adult patients with late-onset Pompe disease. The US Food and Drug Administration granted the combination ERT Breakthrough Therapy designation, but the agency’s review is ongoing. 


Fiege L, Duran I, Marquardt T. Improved enzyme replacement therapy with cipaglucosidase alfa/miglustat in infantile Pompe diseasePharmaceuticals. Published online August 23, 2023. doi:10.3390/ph16091199