Neuronal ceroid lipofuscinosis (NCL) is a group of 13 rare inherited lysosomal disorders affecting the nervous system which are collectively referred to as Batten disease.1 According to the Batten Disease Support and Research Association (BDSRA), Batten disease is estimated to occur in approximately 2 to 4 in 100,000 births in the United States; however, the BDSRA indicates that the actual occurrence may be even higher.
Several companies are currently developing gene therapies intended to treat specific forms of Batten disease. Among these are REGENXBIO, which is developing RGX-181 and RGX-381 for the CLN2 subtype; Lexeo Therapeutics, which is developing LX1004 for the CLN2 subtype; and Taysha Gene Therapies, which is developing TSHA-118 for the CLN1 subtype.2-4 RGX-381 is specifically intended to address the ocular manifestations of CLN2; as of March 30, 2023, a phase 1/2 clinical trial (NCT05791864) for the therapy is active, but not yet recruiting. RGX-181 remains in preclinical development. According to Lexeo and Taysha’s respective pipeline overviews, LX1004 and TSHA-118 have entered clinical development.