The toddler is thriving after the loss of their siblings who had the same disorder. For the first time ever, physicians have successfully treated a fetus with a devastating genetic disorder using a protocol developed at the University of California, San Francisco (UCSF). The child, who is now a thr
A picture of the patient, Ayla.
“When we were having Ayla, we didn’t know if she’d be able to walk,” said Zahid Bashir, Ayla’s dad. “We didn’t know if she’d be able to talk. We didn’t know if she’d be able to eat. We didn’t know if she’d be able to laugh. So, as she hits each of these milestones, we continue to be amazed at her progress. So, yeah, it’s quite something, that I think sometimes we may take for granted, but most of the time we’re quite aware that she’s a miracle.
Pranesh Chakraborty, MD, a pediatrician and metabolic geneticist at CHEO and co-lead of the case study, has provided care to the family for years. Duke has played a pivotal role in many advances in the field of Pompe disease, including developing alglucosidase alfa as the first Food and Drug Administration-approved enzyme replacement therapy for Pompe disease, identifying the role of high and sustained antibody titers to the ERT, using biomarkers to follow treatment response, and establishing immune tolerance induction protocols for the most severe patients, noted Priya Kishnani, MD, co-senior author, division chief of Medical Genetics at...
The researchers hope the success of this first application and publication of the case study will increase awareness of the UCSF clinical trial among parents at known risk of passing on these diseases and the physicians who treat them.
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