Misc In Utero enzyme replacement treatment for Pompe Disease, et al.

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Fetal Therapy Offers Hope for Patients with Rare Genetic Disorders​

Fetal Therapy Offers Hope for Patients with Rare Genetic Disorders

Using a protocol developed at UCSF, physicians have successfully treated a fetus with a devastating genetic disorder for the first time, and the child is now thriving as a toddler.

www.ucsf.edu

Partners Zahid and Sobia Bashir had had three children with a condition called Pompe disease. The couples first two children had died from the disorder. They were having another child named Ayla. Before she was born she given 6 doses of " prenatal enzyme replacement treatment." By the time of the articles' release (Nov. 9, 2022), Ayla was receiving postnatal enzyme therapy at CHEO [Children's Hospital of Eastern Ontario], a pediatric hospital and research center in Ottawa, and was doing well at 16 months old: her cardiac and motor function were normal and she was meeting developmental milestones.

"Infantile-onset Pompe is just one of eight lysosomal storage diseases that UCSF [University of California, San Francisco] has received FDA approval to treat with enzyme replacement therapy in utero for its Phase 1 clinical trial. The other diseases are Mucopolysaccharidosis types 1, 2, 4a, 6 and 7, Gaucher disease types 2 and 3, and Wolman disease."

As someone who has a genetic condition called "Fabry Disease", another "lysosomal storage disease", I was thrilled to find this article a few months ago. I can't even imagine having your first two children being killed by a disease and then having a third child suffering from the same condition. But knowing there are innovative researchers and medical professionals out there working to fight the diseases, using fetal therapy, it makes me hopeful that the fight will soon be brought before birth to fetuses with other conditions that haven't been treated yet.