Lethal Genetic Disease Might Be Efficiently Treated Using Gene Editing

Lysosomal storage disease can be corrected using prenatal editing in a preclinical model as per a proof-of-concept study at the Children’s Hospital of Philadelphia (CHOP), published in the journal Nature Communications. The lysosomal storage disease known as Hurler syndrome is a lethal genetic disease that causes irreversible damage before birth and affects multiple organs leading to even death, if untreated. It affects approximately 1 in 100,000 babies in the Western world.

The study team edited the genetic changes using CRISPR base editing (a single base mutation responsible for the condition) using an AAV9 (adeno-associated virus serotype 9) vector to further halt the progression of the disease prenatally in the mouse model. The result was effective in treating multiple organs.

The Gene Editing Technology

"This study shows that prenatal base editing for Hurler syndrome is feasible in a preclinical mouse model. In addition to showing the benefit of treating the disease before birth, we also showed some correction of the disease with base editing after birth, highlighting the promise of both pre-and postnatal base editing for Hurler syndrome," says senior author William H. Peranteau, MD, an attending surgeon in the Division of General, Thoracic and Fetal Surgery at CHOP and Adzick-McCausland Distinguished Chair in Fetal and Pediatric Surgery.

The study team also assessed the feasibility of the treatment after birth in the mice models that further revealed efficient cardiac improvement.

"Given the prenatal onset of disease, the potential for non-invasive prenatal diagnosis, and the progressive and morbid nature of the disease, Hurler syndrome and other lysosomal storage diseases represent attractive targets for treatment before birth. Although the safety of these approaches for mothers and fetuses still needs to be rigorously characterized prior to clinical translation, this proof-of-concept study offers hope for genetic diseases with limited postnatal treatments," says Peranteau.

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Source-Medindia