Sinwan Basharat, Canada
While news of a baby can bring a lot of excitement for a family, in 2021, a Canadian couple received news that no parent would hope for. Following a genetic test during the mother’s pregnancy, doctors revealed that their unborn daughter had the same fatal genetic mutation that took the lives of two of her siblings during infancy a few years prior. Amidst the heartache and concern, however, doctors shared that there might be hope. She would be the first child ever to receive a monumental experimental therapy that could save her life and pave the way for a near era of medicine – an era where diseases could be treated and possibly even cured before birth.
What was the mutation?
Results from testing in-utero showed that the fetus had a genetic disorder called Pompe Disease. The condition is rare, affecting 1 in 40,000 births, and is associated with mutations in the GAA gene. This gene codes for an enzyme that supports the function of Lysosomes – organelles within cells that help clear away different substances that would otherwise cause damage (See The Review of Religions article on how fasting may affect lysosomes).
Mutations in the GAA gene can lead to either reduced levels or a complete absence of the enzyme. Without a functioning enzyme, complex sugars accumulate over time and wreak havoc within cells, and in particular, affect heart, muscle, and brain cells. Certain forms of Pompe disease, like the ones affecting the Canadian couple’s baby, begin to affect a child even before birth and lead to symptoms early in life affecting their development. The heart thickens at an abnormal rate, and other symptoms affect their breathing, motor control, and overall growth. Most children with the infantile form of Pompe disease, sadly succumb to the condition within 1-2 years of life. Other forms of Pompe disease onset at later stages in life.
A novel way to treat Pompe
The most common treatment for Pompe disease is enzyme replacement therapy, which tries to compensate for the lower levels of the critical enzyme. While the therapy has shown considerable promise for some forms of the condition that are onset at later stages in a child’s development, among infantile forms, results have been less promising. This is because the damage to the cells has already begun before birth. Cells within the cardiac and nervous systems show the early signs, and then the damage rapidly perpetuates as the baby grows. That was the fate of the couple’s previous children who had the same disorder.
To counteract the early damage, doctors in California and in Ottawa, Canada (where the family lives), collaborated to design a therapy that could be delivered in-utero and delay the onset of symptoms. Results from the study were published in November 2022 and reported that the unborn child received 6 rounds of the in-utero treatment. Following a healthy delivery, the baby continues to receive enzyme replacement therapy, and now that she is 16 months old, her parents and doctors report that she’s a happy, healthy, and busy toddler. Something inconceivable for a child with the condition, she is miraculously developing and growing like a healthy child. The future certainly looks bright for the family, and simultaneously about what the results may mean for other health conditions.
The dawn of a new era of medicine
While scientists continue to investigate the safety and efficacy of in-utero treatments (other children are also part of the same ongoing clinical trial), these early results provide an important proof-of-concept. Successfully delivering enzyme replacement therapy to an unborn child, opens the prospect that other health conditions could be treated prior to birth. Even in the case of Pompe disease, there are other efforts investigating whether gene therapy could be a suitable and effective way to treat the condition. With gene therapy, rather than delivering the deficient enzyme (i.e., gene product) to patients, scientists could deliver the ‘corrected’ copy of the actual gene. It may be possible that the condition, and other genetic disorders, could be treated in-utero by delivering that corrected gene and averting the condition from ever occurring. The science is still in its early stages and more robust clinical trials examining the safety, efficacy, and reliability of such treatments are still years or decades away. However, it was just less than a decade ago that gene editing tools began to take shape. In this new era of medicine, scientists will need to be ever-more cognizant that their ideas and interventions do not go against the natural order of God’s creation (read more about Islam’s prophecy and guidance about gene editing). The realms of medicine ought to remain within helping people, like the Canadian family and their daughter, to experience a life that minimizes disease and provides an opportunity for health and vitality. And from there, miracles of life and science will continue to flourish.
About the Author: Sinwan Basharat is a health researcher with a background in molecular genetics and epidemiology. He works for a Canadian research agency in Ottawa, Canada. He also serves as a Deputy Editor for the Science Section of The Review of Religions.