NEW TREATMENT METHOD ⋅ For the first time in Switzerland, an adult patient with spinal cord atrophy is treated 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, they die too early in the engine due to a genetic defect," said Dr. 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 cause of the disease is a modified or missing gene called SMN1
Children usually die after two years
There are five different types of SMA that vary in severity: 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 purple, 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 stopped prematurely due to their 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 reduced in most children.
During treatment, 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 self-employment
St. Gallery 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. 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.
Only one health insurance pays the therapy
In the first year, the cost of treatment with the Spinraza drug amounts to approximately 600,000 francs, the following year to 300,000 francs. Treatments for rare diseases are expensive, especially because the drugs can not be offered in large amounts as blood pressure medication. "Patients are not happy either," says Christoph Neuwirth. However, the federal government has committed itself to promoting healing and research of rare diseases. It therefore needs political decisions that make such treatments available to those suffering from rare diseases. Unlike Germany, spinraza therapy is not required in Switzerland. In Switzerland, 90 percent of SMA children have not had access to therapy. And the others only because they could participate in a German clinical study. For this, the manufacturer delivered the drug free of charge. The parents of the SMA children have resisted and have recently achieved success. Disability Insurance IV now covers the costs of spinraza therapy as long as IV is responsible. That is, until the twentieth anniversary. For adult patients, health insurance would have to pay, but not yet – with one exception. For the SMA patient from Romanshorn, his health insurance has agreed to pay the costs. For Neuwirth, this is consistent, as there is no reason to believe that the successful treatment in children does not work with adults.
Other pharmaceutical companies also investigate anti-SMA drugs. Those who may not be taken for life. But even these drugs would have a high price. There is always a sense of upset, says the neurologist. But a pharmaceutical company is not a caritarian. Developing a new drug costs an average of $ 4 billion. And these costs must be re-recorded. (Kn.)