NERVOUS DISEASE ⋅ In Switzerland, an adult patient with spinal cord atrophy is treated for the first time with a new but expensive drug from a Zug manufacturer. In children, success is impressive.
His eyes are warned, his appearance is very friendly. Thomas Sari is sitting in a wheelchair on the harbor in the Roman Horn. Since early childhood, the 44-year-old businessman suffers from neurological diseases in spinal muscular atrophy (SMA), similar to ALS, the disease of late physicist Stephen Hawking. "In spinal muscle atrophy, engine neurons die too early due to a genetic defect," says doctor Christoph Neuwirth from the ALS clinic at Cantonal Hospital in St. Petersburg. Gallen.
" As a child, I only climb the stairs on all four, "says Sari. Soon it was discovered that the boy suffers from the hereditary disease SMA. Even though he could still ride a child, "even though I was never the fastest". But the disease leads to continuous muscle atrophy. Until 2006, Sari could go without assistance, then only on sticks, for nine years he is in a wheelchair.
The reason for the disease is a modified or missing gene called SMN1. This SMN1 gene is responsible for the survival of the engine neurons, the engine neurons. These are nerve cells in the spinal cord that transmit impulses from the brain to the muscles. If there is a genetic defect, these motor neurons die. The muscle cells no longer receive motion pulses, after which they atomize and die. Muscle weakness and waste are the results. "Children get paralyzed with age," says Neuwirth. And sooner or later, it depends on the disease variant that it dies. "Most of the time, because the breathing muscles become too weak."
Toddlers usually die after two years
There are five different types of SMA, ranging from prenatal spinal muscle atrophy to infants to adult SMA, Infants usually die after one to two years. Some older children do not learn to go because of the disease, adults of type III, like Thomas Sari, unlearn it. Spinal muscle atrophy is a rare disease, Neuwirth speaks of 1 to 10,000 cases per year in newborns. In Switzerland, about 100 children suffer from SMA, and the number of adult patients is less.
In order for the genetic defect to be inherited, both parents must have defective genes. "As a rule, both parents carry an unchanged and a changed, unhealthy gene. Therefore, the parents are not sick." If both parents transmit the altered gene, the genetic defect becomes a disease. If both parents are SMA carriers, the likelihood that the child is suffering from spinal cord atrophy is 25 percent. "Every fifth person goes around with a sick SMN1 gene," says Neuwirth. But these people do not know about it.
The affected children are sleepy, do not develop properly, have dehydration and no head control and do not learn to sit freely. "Because I was a child, you could not do anything about the disease," said Sari. But then he heard that his brother also suffered from SMA, who received a whole new therapy in Germany, which has been approved in Switzerland since October 2017: a drug of Zug Company Biogen, Spinraza Therapy. "And this really is a breakthrough," Neuwirth says. "The thought behind the therapy also opens methods for treating other diseases."
The therapy utilizes the fact that there is an SMN2 gene in addition to the SMN1 gene. This, like the SMN1 gene, produces the necessary SMN protein, albeit in significantly smaller volumes that are unstable. Thanks to the new Spinraza drug, the SMN2 gene is produced to adequately produce the functional and stable SMN- protein.
All studies with Spinraza were prematurely discontinued because of the marked effect. It would have been ethically unreasonable not to pass on the successful drug to the placebo group of SMA children due to study design alone. In this nervous disease, time is pressing. There were dramatic improvements in the small patients. "Many children have developed almost normal, they could reach the milestones of mobility. They could sit and even go, which is usually not the case," says Neuwirth. The disease was at least significantly stopped in most children.
In therapy, the substance must be taken directly to the affected nerves. This can be achieved by puncturing the spine with a needle and injecting the medicine directly there. Initially, this must be done frequently, six times a year, then three times every four months each year.
High price but maintenance of independence
St. Galleries ALS-Clinic has now been the first person in Switzerland with Thomas Sari to treat an adult patient with the new therapy. The 44-year-old has just finished third reading and says that some moves went better and made him feel safer when transferring from a wheelchair. His brother, who still can walk, feels safer with it since he received treatment. But as v Rare for rare diseases, the therapy has a high price (see text below). But they promise invaluable relief for the victims. "At least I hope for a stabilization of the disease or even for a slight improvement." So that he can continue to manage his daily life independently and to continue his work in Arbon. The drug gives him courage.