Researchers in Australia have developed a genome editing approach that could provide a more durable treatment for children with a rare genetic liver disorder.
Researchers have taken an important step toward overcoming a key challenge in gene therapy for children with metabolic liver disorders: the liver's growth can gradually dilute the treatment as new, untreated cells emerge, according to a statement released Friday by Australia's Children's Medical Research Institute (CMRI).
The team used the approach to repair a faulty gene directly at its natural location in the liver, rather than adding an extra copy of it.
The research, published in Molecular Therapy, focused on ornithine transcarbamylase (OTC) deficiency, a severe genetic liver disorder that prevents the body from properly breaking down waste products from protein digestion. More than 500 different gene mutations can cause the disease, making mutation-specific treatments impractical.
In laboratory models, the treatment normalized urinary orotic acid levels, a key marker of urea cycle function, within three weeks. Blood ammonia levels also showed no significant difference from healthy controls after a protein challenge. OTC activity was detected in up to 40 percent of liver cells, according to the study.
In patient-derived human liver cells, the approach restored OTC expression in up to 48 percent of cells, researchers said.
The mutation-agnostic strategy could help address "the challenge of making gene therapy durable in young children," whose growing livers can gradually lose the effect of conventional gene therapies as treated cells are diluted by new, untreated ones, said lead researcher in CMRI Samantha Ginn.
-XINHUA
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