The doctors of the University Clinical Center in Tuzla were the first in Bosnia and Herzegovina to apply a special injection that stops the progression of spinal muscular atrophy. The modern medicine was applied to a one-and-a-half-month-old baby who was diagnosed with a serious illness.
Namely, as stated by the Tuzla University Medical Center, for the first time in Bosnia and Herzegovina, a drug containing the active substance nusinersen, which belongs to a group of drugs known as anti-directional oligonucleotides, was applied.
“Nusinersen is used in the treatment of patients with spinal muscular atrophy and was administered to a newborn aged one and a half months, after he was diagnosed with spinal muscular atrophy by a screening test at birth and then confirmed by molecular genetic analysis,” said the UKC Tuzla.
Spinal muscular atrophy is caused by a lack of a protein in the body called motor neuron survival protein, resulting in the loss of nerve cells in the spinal cord, leading to muscle weakness in the shoulders, hips, thighs and upper back. There can also be weakness of the muscles involved in breathing and swallowing, which can lead to the patient’s life being endangered.
“The drug works by helping the body produce more motor neuron survival proteins, which are lacking in people with spinal muscular atrophy, which ultimately aims to reduce nerve cell loss and can increase muscle strength. The drug is administered intrathecally through a lumbar puncture and the application must be carried out by health professionals who have experience in performing lumbar punctures”, they point out from UKC Tuzla.
Since the early application of targeted therapy that modifies the course of the disease in terms of stopping its progression and progress in development is extremely important, the medical geneticist of the Center for Rare Diseases UKC Tuzla sent a letter to the pharmaceutical companies that are able to provide therapy for the mentioned diagnosis.
After the medicine was provided, dr. med. Ljelja Muaremoska Kanzoska from the University Children’s Hospital Skopje from North Macedonia, who during her stay at UCC Tuzla attended the application of the medicine as a mentor.
“Dr. Ljelja is a neuropediatrician who has been treating patients diagnosed with SMA since 2019, and her presence was of great importance for the entire medical team that participated in the mentioned procedure. During the meeting, after the intervention, Dr. Kanzoska emphasized the importance of neonatal screening to which the mentioned newborn was subjected in the Republic of Croatia, because this screening is not carried out in Bosnia and Herzegovina”, say the UKC Tuzla.
Neonatal screening makes it possible to determine the presence of a certain disease in a child before the first symptoms appear. Neonatal screening for spinal muscular atrophy is not performed in Bosnia and Herzegovina, and there is no Registry of patients with spinal muscular atrophy.
According to dr. med. According to Ljelja Muaremoska Kanzoskova, early diagnosis in the pre-symptomatic phase of the disease is of essential importance for the outcome of the treatment of spinal muscular atrophy, and testing at birth will save on the precious time needed to establish a diagnosis.
