CRISPR Gene Editing Shows Promise in Treating Inherited Blindness

CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) gene editing is one of the topics researchers have been examining for a long time to treat various health conditions.Studies show that CRISPR gene editing might hold solutions for treating leukaemia, heart disease, sickle cell disease and HIV. According to The New England Journal Of Medicine, LCA ( Leber Congenital Amaurosis) is a rare genetic eye disorder that normally presents during the first year of life.  

People with LCA will have low vision and sometimes blindness. LCA is the leading cause of inherited blindness in children, affecting 2–3 infants per 100,000 births worldwide. Doctors say that there are no treatments for this disease since it is an inherited disease caused by specific genes which are carried and passed down through a parent. One of the most common genetic mutations for LCA occurs in the CEP290 gene. One of the roles of the CEP290 gene is to create a protein required for vision. 

The Phase 1/2 BRILLIANCE clinical trial tested an experimental CRISPR-based gene editing treatment called EDIT-101, developed by Editas Medicine. The treatment is designed to edit a mutation in the CEP290 gene. Gene editing uses CRISPR/CAS proteins which look like scissors that allow doctors to make small cuts within the DNA to remove the mutations that would otherwise create abnormal protein. 

This research has recruited 14 participants which consisted of 12 adults and two children for the Phase ½ BRILLIANCE trial. All participants received EDIT-101 in one eye. At the study’s conclusion, 11 of the 14 participants, or 79%, showed improvement in at least one of the four measured outcomes, while six, or 43% of participants, experienced improvement in two or more outcomes. 

One of our trial participants has shared several examples, including being able to find their phone after misplacing it and knowing that their coffee machine is working by seeing its small lights. While these types of tasks might seem trivial to those who are normally sighted, such improvements can have a huge impact on the quality of life for those with low vision. Further study is needed to confirm these results and optimize future treatments. 

Doctors say that CRISPR gene editing is the hope to help fix many of (these) degenerations, disorders, and diseases of our time. The ability to use gene therapy to correct a disorder like LCA is a huge breakthrough in medical science.Treating disorders like LCA will be the first stage in the ability to treat many of the genetic mutation disorders we see commonly in practice. If this treatment proves very successful doctors may see a potential to stop many other disorders of the eye, as well as systemic issues. 

Having a treatment that targets the origin of the disease is always preferred and this study demonstrates that it is possible. It is important to have a treatment for LCA, as well as many of the inherited retinal dystrophies since retinal diseases can cause significant visual impairment.