AAV gene therapy

Cystinuria is a renal disease characterized by severe kidney stones and is caused by mutations in either of two solute carrier genes- SLC3A1 or SLC7A9. BridgeBio is developing an investigational adeno-associated virus (AAV) gene therapy to potentially deliver a functional copy of the SLC3A1 gene directly to the cells of the kidney involved in amino acid reabsorption via the transport complex. If successful, BridgeBio hopes to restore the kidney’s ability to form a functional amino acid transport system, thereby correcting the hyperexcretion of urinary cystine that causes stone formation in cystinuria. There are currently no approved therapies for cystinuria other than limiting sodium and protein intake.