What is Gene Therapy?

Gene therapy treats disease by fixing, replacing, or switching off the genes that cause it. Doctors deliver new genetic instructions into a person’s cells. The cell reads those instructions and makes the right protein, or stops making a harmful one.​

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SPG52 is caused by harmful changes in the AP4S1 gene. A gene-replacement approach would deliver a functional AP4S1 to restore the missing AP-4 protein function in key cells. 

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Gene therapy targets the root cause, not just symptoms. One treatment can have long-lasting effects because cells keep using the new instructions, however it will not undo damage that has already happened - and that's why time is critical.