Three years into the national newborn screening program for spinal muscular atrophy, results are exceptional: early detection and treatment are drastically changing the course of this severe disease.
Since it began on March 1, 2023, screening for spinal muscular atrophy (SMA) has covered more than 112,000 newborns across 32 Croatian maternity wards. The disease was detected in 15 children, and thanks to early diagnosis, they were able to start therapy before symptoms appeared. Most of these children are now developing normally, and even those with some developmental delays are faring far better than they would have without early treatment.
Ivan Lehman, a pediatric neurologist at Zagreb University Hospital Center (KBC Zagreb), speaking on the occasion of SMA Awareness Month in August, estimated that without early detection and therapy, roughly half of the 15 children would have developed a very severe form of the disease. "Those who are not developing perfectly are doing excellently compared to the natural course of the disease," Lehman told Hina. As an example, he cited a child who had not yet started walking at 12 months, emphasizing that this does not mean the child will not walk.
Ksenija Fumić, head of the Department for Laboratory Diagnostics of Inherited Metabolic Diseases and Newborn Screening at KBC Zagreb, highlighted the key advantage of screening. "Based on a child's appearance or development, it would be impossible to tell they were sick. That is precisely the key to screening-treatment can begin before the disease causes clinically visible and irreversible damage," she said. All 15 newborns diagnosed were symptom-free at the time of their first neurological examination.
SMA is a rare inherited neuromuscular disease affecting approximately one in 10,000 newborns. In Croatia, about 35,000 children are born each year, meaning three to four new cases are expected annually. Screening is performed between 48 and 72 hours after birth by taking three to four drops of blood from the heel.
Initially, blood samples traveled to the KBC Zagreb laboratory via regular mail, which could take more than 20 days. "That is unacceptable," Fumić said, adding that samples should arrive within five days at the latest. An express courier service was introduced, and the laboratory now operates in two shifts, including Saturdays. As a result of these efforts, the most recent child detected through screening received therapy by day 15 of life. "Every day of delay in starting therapy means the irreversible loss of thousands of neurons," Fumić warned.
Currently, 106 people with SMA are being treated at the expense of the Croatian Health Insurance Fund (HZZO). In 2025, 15 new patients were included in treatment, and from the beginning of 2026 to July, six more people started therapy. Last year alone, HZZO allocated approximately €16.7 million for the treatment of these 106 patients.
Children detected through screening have access to all three therapeutic options: nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), and risdiplam (Evrysdi). So far, parents have mostly chosen between the one-time gene therapy and the daily oral medication risdiplam. The estimated cost of both therapies is around €2 million. Fumić notes that choosing a therapy within a few hours is an extremely difficult decision for parents who arrive at the hospital with a newborn that looks healthy.
Treatment options could expand further. In early July 2026, the European Commission approved Itvisma (onasemnogene abeparvovec), a one-time gene replacement therapy for children over two years of age, adolescents, and adults. However, it is not yet available at the expense of HZZO because the marketing authorization holder has not yet submitted a request for its inclusion on the drug list.
Ervina Bilić, who leads the Ministry of Health's Reference Center for Neuromuscular Diseases, emphasizes that adults with SMA are increasingly participating in education, work, and social activities. The Croatian Association of Muscular Dystrophy Societies stresses that alongside modern therapies, continuous rehabilitation, psychological support, and social inclusion must be ensured. Ksenija Fumić also highlights the need for psychological support for parents who must come to terms with the diagnosis and decide on treatment in a very short time.
