Will Single Injection Offer Improvements for Leber Congenital Amaurosis?

When something in our computers doesn’t work or has a defect, we download a “patch” from the manufacturer, and call it repaired. With ongoing scientific research and development, the practice of gene therapy continues to show promise through the “patching” or replacement of damaged or missing genes. According to MedicalResearch.com, a recent study is showing success for people with RPE65-associated Leber congenital amaurosis (LCA).

RPE65-associated Leber congenital amaurosis causes childhood blindness and vision impairments. The condition itself is based on the mutation of the retinal pigment epithelium gene, PRE65, which causes photoreceptor cells to die. The disease is considered rare, and there is currently no cure. Researchers have struggled to understand why the mutation occurs. People typically experience blindness around the age of 40. To learn more about this rare condition, click here.

The study reviewed the results of treating adults and children with RPE65-associated Leber congenital amaurosis with a one-time injection that carried a specific gene therapy. The treatment was composed of an adeno-associated viral vector (AAV). The AAV is a small virus that infects the patient, but does not cause a disease. Typically used for gene therapy treatments, AAVs have proven themselves to be the “workhorse” of delivery mechanisms.

Based on the results of the tests, improvements were noted through a multiple light level mobility test (MLMT) that detects vision changes, full-field light sensitivity, and other testing standards. The main conclusions of the trial are:

  1. The primary and many secondary proposed conclusions were met.
  2. The results showed an improvement in the genetic disease through an intervention.
  3. Little or no inflammation resulted from the injection.

The overall results of the test were conclusive enough that researchers are recommending additional field tests for other retinal diseases. To learn more about the test results, click here.


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