New Therapies Bring Hope for Improving the Outcomes of Pediatric Patients with Rare Disorders

According to a recent article, at the American Academy of Neurology annual meeting in 2022, the importance of disease-modifying therapies for patients diagnosed with rare pediatric disorders was highlighted.

Lisa Emrick, MD

Lisa Emrick, MD, used the annual meeting to emphasize the importance of gene therapies. Working for Baylor College of Medicine as an assistant professor of neurology and developmental neuroscience, Emrick has extensive knowledge on the subject.

Emrick pointed out that children can be affected by over 23 million rare disorders, yet less than 10% have therapies to treat them. That leaves over 90% of these rare disorders without therapies. Therefore, it is vital that more time is dedicated to the research, development, and use of emerging therapies.

Current Developments

As of right now, there are already some strategies about disease modification that are being created. These include small molecule, enzyme replacement and gene-replacement therapies with adeno-associated vectors (AVV), gene editing, and gene splicing. As Emrick states, it is essential to start by understanding the gene, figuring out its pathway, and finally the next occurring gene sequence.

There have been studies done previously using AAV vectors that have given researchers a better understanding of how they can be used. One such study Emrick referenced was one in which gene therapy was utilized in infants with Tay-Sachs disease, a study that showed some success.

Looking Towards the Future

With the evidence that these therapies can work established from other studies, there is more hope towards creating enzyme-replacement therapies that will be successful. It has been hypothesized that there will need to be a variety of modes or methods when it comes to modifying the disease and creating treatment in order to overcome the blood-brain barriers that exist in enzyme-replacement therapies.

Emrick notes that more often than not, there are multiple ways to treat patients with the same disease. Therefore, she states we need to do more research to advance diagnosis and treatments.

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