Stargardt Disease Therapeutics

Current Therapeutics

At present there is no cure for Stargardt disease, however there are several research studies ongoing working to find treatment. While progression cannot currently be stopped, there are ways that people affected by Stargardt disease can attempt to slow its progression.  

  • Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit.
  • Animal studies have shown that lipofuscin, the fatty substance that builds up under the retina in Stargardt patients, can be increased even more by taking excessive amounts of vitamin A and beta carotene, as well as a toxic vitamin A derivative called A2E. Therefore, it is typically recommended that people with Stargardt disease avoid these vitamins. 

Where We Are Going

Stargardt disease is a genetic disease and some of the genes and mutations involved have been identified by years of research. Knowing the genes and mutations has led to better diagnosis through genetic testing and potentially therapies, such as where the affected genes could be corrected or replaced, i.e. gene therapy. You can search for clinical trials around the world using www.clinicaltrials.gov, or you can read here about clinical trials related to IRDs.

Understanding how the disease develops and progresses is crucial in developing drugs that could halt the buildup of lipofuscin or death of the photoreceptors. Vitamin A is one of the molecules that can contribute to the build up of lipofuscin in Stargardt disease. One study is looking at a synthetic version of vitamin A that is not easily converted into lipofuscin and so may slow its buildup. So far it has been successful in animal models and is being tested for safety in humans in general prior being tested for effectiveness in people with Stargardt disease.

In gene therapy, genetic material is inserted into cells to compensate for abnormal genes or to make a beneficial protein in order to treat a disease. The most common type of gene therapy being investigated for the treatment of IRDs in clinical trials is gene augmentation therapy. Many IRDs are caused by specific gene mutations which lead to reduced production or loss of the function to the proteins they make (so-called “loss-of-function” mutations). With gene augmentation therapy, a normal functioning version of the disease-causing gene is inserted into the affected retinal cells helping them to produce sufficient levels of the protein, restoring its normal function and preventing cell death. Gene therapy studies for Stargardt disease focus on repairing or replacing the ABCA4 gene. The ABCA4 gene is quite large and caused difficulties in delivering the gene to the retina. However, studies are ongoing. You can read more about clinical trials for IRDs here.

As Stargardt disease is characterised by loss of cells in the retina, some studies are attempting to replace the dead or dying cells with healthy cells. Stem cells are undifferentiated immature cells that are capable of self-renewal and can differentiate into specialist cell types, including RPE and photoreceptor cells. The application of stem cells to replace or repair damaged cells in the diseased retina, potentially restoring visual function, is an important area of ongoing research IRD drug development in general .

There are different types of stem cells that are being evaluated as potential treatment of IRDs, however caution must always be used when looking for human research studies and the guidance of a clinical professional is advised.