Pharmacological Therapy

Doctors commonly prescribe medications to treat a wide variety of diseases affecting the human body.  For Choroideremia and other retinal diseases, scientists are working to develop and test medications which can slow down or stop the progression of vision loss.

The genetic defect in Choroideremia causes specific cells in the retina to gradually stop functioning normally, and eventually these cells die off causing vision loss.  Scientists are researching different types of compounds that can help to keep these cells healthy.  These medications, called neuroprotective agents, can improve the health of the retina by keeping these affected cells functioning and surviving longer, thereby slowing the progression of vision loss.  Another area of research involves a specific type of experimental medications called read-through agents.  These medications are specifically designed to treat certain types of gene mutations called nonsense mutations, which interrupt the production of the Choroideremia protein causing it to be too short and not function.  Read-through agents convince the body’s machinery to ignore this genetic “stop sign” and produce the full length protein, which enables normal function and health to affected cells.  Read-through agents are being tested in clinical trials for other diseases like Duchenne’s Muscular Dystrophy and Cystic Fibrosis.

Key Researchers

Dr. Mariya Moosajee

Dr. Jeffrey Mumm