Foundation Research Efforts
Since the inception of the Choroideremia Research Foundation in 2000, numerous athletes have pushed their limits while raising money critical to finding a cure for CHM. These individuals, many with limited site themselves, along with their families, friends, and supporters, have been an integral part of driving research through their remarkable physical efforts by raising money and awareness that has brought us to the brink of a treatment for Choroideremia.
While there is no current treatment or cure available for Choroideremia, there are a number of Clinical Trials currently underway testing potential treatments for CHM. Individuals interested in being part of a Clinical Trial, or eventually being treated for CHM when a treatment or cure becomes available will need to have had a Genetic Test to confirm their diagnosis of Choroideremia. These tests involve a simple blood draw that is sent off to an accreditted lab where a diagnosis of CHM can be confirmed at a genetic level.
Genetic diseases like Choroideremia are caused by a mutation, or defect, in the body’s DNA. These genetic mutations prevent the body from producing a beneficial protein necessary for certain cells to survive. Gene therapy is a type of treatment for genetic diseases in which the normal gene is delivered into the affected cells, enabling this protein to be produced and restore normal cellular function.
Stem Cell Therapy
The vision loss in Choroideremia is caused by the progressive death of specific cells in the retina which are responsible for creating vision. Restoring lost vision requires replacing those cells, and stem cells are a potential candidate for creating transplants to place into these affected areas.
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.
Vision loss in Choroideremia progressively continues until people lose all their sight. For these individuals, retinal prosthetics can be surgically implanted to restore a small amount of vision.