Gene therapy for spinal muscular atrophy: First experience in Lithuania

Abstract

Objectives To present the first case of spinal muscular atrophy (SMA) treated with gene therapy in Lithuania. Materials and Methods Here we report a patient with SMA type 1 who received onasemnogene abeparvovec in Lithuania. Results Our patient is a 2,8 year old girl, who was diagnosed with SMA type 1 at the age of 15 weeks. She received the first injection of nusinersen at the age of 18 weeks. Her motor functions were assessed using CHOP INTEND scale and the scores improved from 14/64 before treatment up to 35/64 and 46/64 points after four and five doses of nusinersen, respectively. Nevertheless, her bulbar function was declining. At 7 months, due to respiratory insufficiency and frequent respiratory infections NIV was established. She also had feeding difficulties and failure to thrive, and a G-tube was inserted at the age of 13 months. At the same time the family initiated their own fundraising campaign, attracting a lot of attention from the media and politicians. Finally, with the partial reimbursement from the government of Lithuania, the girl was able to get dosed with onasemnogene abeparvovec at the age of 20 months (body weight was 9,2 kg). After the infusion, blood tests were performed regularly, and the only side effect we observed was elevation of transaminases. According to the protocol, the patient was put on steroids for three months. After one year after gene therapy, the patient can sit independently, she can stand with support. No major changes in bulbar function were noticed so far. Her CHOP INTEND score increased by two points (47/64 points). Conclusions To our knowledge, this is the first case of gene therapy for SMA in the Baltic countries. We consider it to be successful, as the patient was almost two years old, pretreated with nusinersen, and the risk of complications was higher than in young patients.