A group of doctors in the US and Canada are reporting something. 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 killed her siblings. The child, named Ayla, appears to be developing as expected, but she will need continued treatment.
There is a disease called Pompe disease. There is a gene that is responsible for making the acid alpha-glucusidase. The main source of fuel for the body is found in the lysosomes of our cells and is broken down into sugars. Pompe sufferers produce less GAA than usual, which causes their cells to become over filled with glycogen. The build-up damages the heart and bones. The symptoms of early onset Pompe are similar to an enlarged heart. Children born with this form die within a year from heart or respiratory issues. One out of every 40,000 births is affected by Pompe.
There has been a standard treatment for Pompe since the 2000s. It is not possible to reverse the permanent organ damage that may have already occurred when ERT is given to newborn babies. The treatment is less effective when a child develops a strong immune reaction. Many of these children have problems with their motor skills as they get older.
The University of California San Francisco is conducting a small Phase I clinical trial to see if it is possible to improve the outcomes of these patients by delivering ERT even earlier.
The rationale for giving ERT before birth is to prevent organ damage, to get the enzyme into the central nervous system, and to avoid an immune response to the missing proteins.
Ayla, the team's first patient, was the focus of the new paper.
The trial is being led by scientists at the University of California, San Francisco, but they collaborated with doctors at the Children's Hospital of Eastern Ontario in Canada, and with Pompe experts at the Duke University School of Medicine.
The mother of Ayla had three previous pregnancies. Two of her children passed before they were three years old, and the family decided to end the other one's pregnancies once they were confirmed. The mother was 24 weeks pregnant when she began treatment.
It was impractical for the family to travel to UCSF for the trial because of the restrictions related to the swine flu. Researchers and doctors collaborated to allow Ayla to receive it. The same standard procedure was used for Ayla's therapy because there are other treatments that can be delivered through the uterus. She was given ERT every two weeks for ten weeks. She was born about 3 weeks after the last session.
Ayla's heart seemed to be a good size after she was born. At 16 months of age, her heart and motor function seem to be normal and she is meeting all of her development milestones. Her body is more tolerant of the therapy than her siblings were. She requires less medication to prevent immune-related problems.
The father of Ayla said in a statement that they didn't know if she'd be able to walk. We weren't sure if she'd be able to talk. We weren't sure if she'd be able to eat. We weren't sure if she'd be able to laugh. We are amazed at her progress as she hits each milestone. It is quite something, but most of the time we are aware that she is a miracle.
Pompe isn't the only genetic disease that the researchers are hoping to treat using ERT in the womb, their trial is approved for eight other lysosomal conditions Two patients with different diseases have been included in the trial since Ayla, with both having recently completed their treatment. It's too early to know the other outcomes of these children, but they have avoided premature births. It will take several years for the trial to be completed.
Treatments for Pompe may one day be able to repair or replace the underlying cause of the disease. For now, Ayla and other patients like her have to take ERT to stave off the worst effects of the disease Her story might become more common if the research continues to show promise.
If we continue to see that it is safe and improves outcomes in other diseases, we hope that this trial will pave the way for more widespread use of ERT.
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