Therapies for genetic conditions: Update

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Pompe disease is a rare genetic disorder caused by a deficiency of an enzyme – acid alpha-glucosidase (GAA) – which is needed to break down glycogen.


Without treatment it is lethal in infants and young children. But here is a new treatment called enzyme replacement.

The study found all 18 children who started to receive the enzyme replacement, recombinant human GAA (rhGAA), before they were six months old survived to at least 18 months of age. Fifteen of the 18 children also did not need a ventilator. The study showed that starting rhGAA before the age of six months reduced the risk of death in children by 99 percent, reduced the risk of death or invasive breathing assistance by 92 percent, and reduced the risk of death or any type of ventilation by 88 percent, compared to past patients without this treatment.

The other recent finding is a gene-chip technique.

Researchers at Cincinnati Children’s Hospital Medical Center have developed the first gene chip to use in the early diagnosis of at least five hereditary liver diseases, to detect genetic causes of jaundice in children and adults, and potentially to lead to personalized treatment options. The chip, termed the “jaundice chip,” is nearly 100 percent effective in the detection of the most common mutations in children with inherited causes of jaundice, according to a new Cincinnati Children’s study in the January issue of the journal Gastroenterology.

Cincinnati Children’s Hospital Medical Center


Bertalan Meskó

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