Promising results from in-utero treatment of child with Pompe disease

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The details of an extraordinary medical procedure have been published in the New England Journal of Medicine with a treatment successfully administered before a child was born that has blocked the development of Pompe disease.

Pompe disease is a rare inherited and often fatal disorder that results in the progressive breakdown of organs. It can be effectively treated in many cases if it is quickly diagnosed and treated.

The child who was diagnosed with the severe infantile-onset form of the disease was treated while in the womb with the infusion of a treatment into its umbilical cord.

The child, Ayla Bashir, is now 16 months old and is meeting all developmental milestones. She was diagnosed with infantile-onset Pompe disease through prenatal screening and then treated in Canada with the product supplied by Sanofi.

The researchers attempted the procedure after Ayla's two siblings died of Pompe disease.

The researchers recently treated another child in the womb with enzymes targeting Hunter's syndrome. The child was born last month and doctors are monitoring his condition.

Pompe disease is a lysosomal storage condition. It can be treated by infusing the missing enzyme quickly after birth. However, there is still the risk of irreversible damage before birth.

The researchers theorised that infusing before birth via the umbilical cord would eliminate the risk of damage.

The FDA approved the trial in 2020.