scAAV9-MMAB

scAAV9-MMAB is a self-complementary adeno-associated virus serotype 9 (AAV9) gene therapy designed for the treatment of Cobalamin B–type (cblB) methylmalonic acidemia (MMA). This ultra-rare autosomal recessive metabolic disorder is caused by pathogenic variants in the *MMAB* gene, which encodes ATP:cob(I)alamin adenosyltransferase (ATR). ATR is the enzyme responsible for synthesizing 5′-deoxyadenosylcobalamin (AdoCbl), an essential cofactor for methylmalonyl-CoA mutase (MMUT). Deficiency in MMAB leads to elevated methylmalonic acid levels, recurrent metabolic crises, and high mortality. Developed as part of the NIH's Platform Vector Gene Therapy (PaVe-GT) program, scAAV9-MMAB delivers a functional human *MMAB* gene under the control of an EF1 promoter. Preclinical studies have demonstrated that the self-complementary configuration provides superior biochemical correction and survival rescue compared to single-stranded vectors, supporting its potential for both neonatal and later-life treatment strategies.

Other names

self-complementary AAV9-MMAB