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The New England Journal of Medicine
|November 9, 2022
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Prenatal enzyme-replacement therapy (ERT) shows promise for treating infantile-onset Pompe disease before birth. This early intervention in a fetus with CRIM-negative Pompe disease led to positive health and developmental outcomes post-delivery.

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Area of Science:

  • Medical Genetics
  • Pediatric Endocrinology
  • Metabolic Disorders

Background:

  • Early-onset lysosomal storage diseases, like infantile-onset Pompe disease, cause significant in utero organ damage.
  • Prenatal diagnosis and intervention are critical for managing severe genetic conditions.
  • CRIM-negative infantile-onset Pompe disease presents a severe clinical course, often fatal without treatment.

Purpose of the Study:

  • To evaluate the safety and efficacy of in utero enzyme-replacement therapy (ERT) for a fetus diagnosed with CRIM-negative infantile-onset Pompe disease.
  • To assess the long-term impact of prenatal ERT combined with postnatal therapy on patient outcomes.

Main Methods:

  • Prenatal administration of enzyme-replacement therapy (ERT) to a fetus diagnosed with infantile-onset Pompe disease.
  • Genetic confirmation of CRIM-negative status.
  • Postnatal monitoring of cardiac function, motor development, biomarker levels, and overall growth.
  • Continuation of standard postnatal ERT and supportive care.

Main Results:

  • The patient exhibited normal cardiac function and age-appropriate motor development postnatally.
  • The child met developmental milestones and maintained normal biomarker levels.
  • Successful feeding, adequate growth, and overall well-being were observed at 13 months of age.
  • The treatment regimen, including in utero ERT, was well-tolerated.

Conclusions:

  • In utero enzyme-replacement therapy (ERT) is a potentially safe and effective treatment for CRIM-negative infantile-onset Pompe disease.
  • Prenatal ERT can mitigate in utero organ damage, leading to improved postnatal health and developmental outcomes.
  • This approach offers a promising therapeutic strategy for early-onset lysosomal storage diseases where organ damage begins prenatally.