Genespire is developing GENE202, an ISLV-based gene therapy, to treat patients affected by methylmalonic acidemia (MMA).

MMA is a rare genetic disease characterized by significant morbidity and mortality that primarily affects children. This disorder is mostly caused by the deficiency or absence of an enzyme called methylmalonyl-CoA mutase (MUT), essential for the metabolism of certain amino acids and fats. Insufficient levels of the enzyme result in the accumulation of toxic metabolites (e.g. methylmalonic acid) causing long term complications including neurocognitive dysfunction, impaired growth, as well as cardiac, renal, and hematological issues. There are currently no approved treatments for this disease, highlighting the need for further research and therapeutic development.

Genespire’s ISLV-based gene therapy presents a distinct alternative, offering a one-time treatment option accessible to pediatric patients who represent the majority of MMA patients.

Genespire further develops programs for additional inherited metabolic disease indications and bleeding disorders.