International publication on SMA with the participation of our specialist

2.08.2021

Prof. Maria Mazurkiewicz-Bełdzińska from the Division of Developmental Neurology of the MUG co-authored a paper entitled Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls, which was published in the prestigious journal The New England Journal of Medicine (IF 91,245).

prof. Maria Mazurkiewicz-Bełdzińska/photo Sylwia Mierzewska/UCC

The clinically important international publication presents the results of risdiplam treatment of infants with type I spinal muscular atrophy (SMA1). The study demonstrates that patients treated with risdiplam achieve developmental milestones and improvements compared to the natural course of the disease.

- This is another breakthrough discovery and a new opportunity for SMA patients. Until recently, spinal muscular atrophy was the most common genetic cause of death in infants. It is a disease that is always progressive in its natural course, and its primary symptoms are increasingly pronounced muscle weakness and gradual atrophy. All muscles weaken: arms, legs, trunk, and at a later stage also the muscles necessary for swallowing or breathing – explains Prof. Mazurkiewicz-Bełdzińska. – In the case of SMA type 1, when the symptoms of the disease appear in the first six months of life, 90 percent of children require ventilator support before the age of one without treatment. With new therapies and the availability of screening tests, children have a chance for normal development.

The full text of the publication is available below in the attachment.

As part of the newly introduced pilot program of preventive screening for SMA in newborns at the Clinical Hospital of the MUG, the first young patient has already been treated. More information about the study can be found on the UCC website.