According to a story from finanznachrichten.de, the latest data from three phase 3 studies is giving further confirmation to the capability of the recently approved gene therapy Zolgensma to have lasting benefits for patients with spinal muscular atrophy, particularly the type 1 variant, which is considered the most severe. The patients in these studies that received treatment before symptoms begin showed vastly improved levels of motor milestone development in comparison to the natural course of the disease. The presentation of this data occurred at the 2019 Congress of the European Paediatric Neurology Society (EPNS).
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. Without prompt treatment, the disease is lethal in many cases. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. The most effective treatment currently available for the disease is called Zolgensma. To learn more about spinal muscular atrophy, click here.
SPR1NT
The first study, called SPR1NT, is an open label trial the is testing the benefit of Zolgensma on patients who were treated before symptoms began and were no more than six weeks old. The study included patients that had either two, three, or four copies of the SMN2 gene. So far, the data from the patients with two copies is encouraging; all could swallow normally at six months, 60 percent could sit without support at an average of 7.6 months, and 30 percent could stand with assistance at an average of 10.1 months.
STR1VE
The second study, called STR1VE, also shows positive findings. This study included patients who were treated when they were less than six months old and carried either one or two SMN2 gene copes and have point or gene deletion mutations affecting SMN1. 50 percent of patients in the US arm were able to sit upright for at least 30 seconds at 12.1 months and 6 percent were able to do so at 4.2 months. In addition, of the six patients in the US arm that have completed the study (18 months), five were able to sit on their own without help. One patient was able to walk without help.
START
The findings from the START study examined the long term impacts of the drug on spinal muscular atrophy patients. This was originally started as a phase 1 study. As of May 31st, all 10 patients that originally enrolled in the study and chose to participate in the long term extension are alive and maintain motor function. The mean age of this group is 4.2 years. 70 percent are not receiving supplementary treatment and 60 percent do not need breathing assistance on a daily basis.
