A team of doctors in the U.S. and Canada are reporting a medical first, Gizmodo reported. They were able to start treating a child’s rare and often deadly genetic condition while she was still a fetus in the womb – the same condition that claimed the lives of her siblings. Now 16 months old, the child, named Ayla, appears to be developing as expected, though she will continue to need ongoing treatment.
NORD provided information about Pompe disease. It is a rare disease continuum with variable rates of disease progression and different ages of onset. First symptoms can occur at any age from birth to late adulthood. Earlier onset compared to later onset is usually associated with faster progression and greater severity. At all ages, skeletal muscle weakness characterizes the disease, causing mobility problems and affecting the respiratory system.
According to NORD, the most severely affected infants usually present within the first 3 months after birth. They have characteristic heart (cardiac) problems (dysfunction due to heart enlargement) in addition to generalized skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile Pompe disease). Less severe forms of Pompe disease with onset during childhood, adolescence, or adulthood, rarely manifest cardiac problems, but gradually lead to walking disability and reduced respiratory function.
Pompe disease is a rare, multisystemic, hereditary disease, which is caused by ‘pathogenic variations (abnormalities / mutations) in the GAA gene.
The GAA gene contains the genetic information for production and function of a protein called ‘acid alpha-glucosidase (GAA). Shortage of this protein hampers the degradation of a complex sugar named glycogen into a simple figure named glucose. Therefore, glycogen starts to accumulate in all kinds of tissues, but primarily in skeletal muscle, smooth muscle, and cardiac muscle, where it causes damage to tissue structure and function.
According to Gizmodo, since the mid-2000s, there has been a standard treatment for Pompe – a replacement analog of GAA that’s delivered via IV infusion. Even when enzyme replacement therapy (ERT) is promptly given to affected newborns, through, it can’t reverse the permanent organ damage that may have already occurred. Children also often develop a strong immune reaction to the treatment, making it less effective. As a result, many of these children still grow up to have developmental and/or motor problems.
Researchers at the University of California San Francisco and elsewhere have begun conducting a small Phase I clinical trial testing whether it’s possible to improve the outcomes of these patients by delivering ERT even earlier, while a baby is still developing in the uterus.
The team for this is led by UCSF scientists who collaborated with doctors at the Children’s Hospital of Eastern Ontario (CHEO) in Canada, where Ayla’s family was recruited, and with Pompe experts at Duke University School of medicine, where the enzyme treatment was created.
Ayla’s mother had three prior pregnancies, all of which developed Pompe. Even with treatment, two of her children passed before the age of three. The treatment was given to Ayla in-vitro, every two weeks for 10 weeks. She was given ERT through the umbilical vein, and was born about three weeks after the last session.
The results appear to have promise. Ayla’s heart was a healthy size. At 16 months, her heart and motor function look to be normal, and she is meeting all the developmental milestones on time. She is more tolerant to the therapy than her siblings were, and she’s required fewer medications to prevent immune-related complications.
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