A Phase I/IIa Dose Escalation Safety Study of Subretinally Injected Stargen (SAR422459), Administered to Patients With Stargardt Macular Degeneration
Stargardt disease is caused by mutations in the ABCA4 gene. Children where both parents are carriers (have the gene in their own DNA) have a one in four chance of inheriting both mutated genes (one from each parent) leading to Stargardt disease. The abnormal function of the ABCA4 protein in the light sensitive cells of the eye leads to the loss of vision in patients with Stargardt disease.
The study drug is being tested to see if it can successfully transfer a normal copy of the ABCA4 gene into the eye of the person with SMD. Studying genetic material obtained from the blood or a saliva swab from you may provide valuable information about the specific genetic mutation(s) affecting your family member, as well as others with the disease. Researchers will study your sample to look at one of more parts of the particular gene known to cause or to be associated with SMD.