617 words (source – 3% match) vs. 452 words (mine – 4% match)

As our healthcare field continues to innovate and grow, we have seen more conversations regarding gene therapy and its efficacy. Gene therapy is used to modify or manipulate genes in the body to address disease. It is seen as a transformative option for many people living with rare or debilitating genetic conditions such as Hurler syndrome. Hurler syndrome is a rare inherited condition caused by IDUA gene variants. These mutations prevent the body from adequatly breaking down complex sugars called glycosaminoglycans; as these build up in the body, they cause a variety of health effects. While Hurler syndrome is currently treated with enzyme replacement therapies or stem cell transplants, there is no cure and these treatments come with their own complications. Unfortunately, this condition is often fatal by age 10. Identifying an effective gene therapy could vastly change the outlook for this community.

Lily Ramsey reports in News Medical that a study from Univrsity of Minnesota researchers is exploring the possibility of developing this kind of gene therapy. The study, published in Scientific Reports, sought to understand changes in the brain before and after gene therapy administration. To begin, the researchers first developed mice models of Hurler syndrome. They then mapped the brains of the mice using high resolution resting-state functional MRI. This approach allowed researchers to identify how and where the Hurler syndrome mutations altered neuronal networks.

Next, the research team evaluated the novel therapy (the PS gene-editing system), which was created on-site. After treating the mice models, high resolution resting-state functional MRI was once again leveraged to identify any neuronal fixes. The gene therapy prompted higher levels of liver enzymes that broached the blood-brain barrier and not just reconnected with, but sustained connections with, neural networks. This allowed brain function and connectivity to improve, as shown through the MRI results.

It’s important to note that these results were found solely in mice models and not yet replicated in humans. However, this research could catalyze additional preclinical and clinical studies in the future.

About Hurler Syndrome (MPS I)

Also known as: Mucopolysaccharidosis type I

Hurler syndrome is the most severe form of mucopolysaccharidosis type I, a rare inherited metabolic disease. In children with severe disease, symptoms may be present at or near birth. However, in those whose disease manifests less severely, symptoms may appear later (between 3-8 years old). Potential symptoms of Hurler syndrome may include:

• Corneal clouding
• Frequent or recurrent upper respiratory tract infections
• Enlarged tonsils and/or adenoids
• Difficulty breathing
• Spinal abnormalities
• Enlarged liver and spleen
• Hydrocephalus
• “Claw hand” – the inability to fully open the fingers
• Developmental delays
• Hernies
• Thickened or dysfunctional heart valves
• Deafness
• “Coarse” facial features
• Joint stiffness
• Progressive intellectual disability