Drug for spinal atrophy first used in TA

Tel Aviv Sourasky Medical Center’s Dana-Dwek Children’s Hospital is the first in the country to offer a “breakthrough experimental drug” against spinal muscular atrophy (SMA), a severe genetic disease affecting children that was until now incurable.

Prof. Aviva Fattal-Valvsky, head of the hospital’s pediatric neurology unit, said on Wednesday that “this is a breakthrough in all the treatments of genetic diseases of this kind that in the past could be regarded as science fiction.”

Young patients began on Tuesday to treat affected children with the drug, Sprinraza, which was also recently approved by the US Food and Drug Administration. The first patient was a six-month-old baby girl who “successfully received her first dose. We all hope that in fact, the treatment will bring about a significant improvement in her condition,” said Fattal-Valvsky.

SMA, also known as autosomal recessive proximal spinal muscular atrophy so as to distinguish it from other conditions with similar names, is a rare neuromuscular disorder involving the loss of motor neurons and progressive muscle wasting, especially muscles in the respiratory system and often leading to premature death.

Sprinraza was approved quickly by the FDA after it saw unusually effective results in saving lives of patients, she added. Since the cost of the drug are very high, the criteria for choosing the most suitable patients will be strictly according to medical criteria and be decided jointly by a Dana-Dwek team and Biogen, the company that developed the drug. Biogen hopes the drug will be added as soon as possible to the basket of health services.

The disease occurs in Israel in one per 6,000 to 11,000 births. The earlier the symptoms appear, the more severe the disease is. The drug, whose use has not yet been approved for official use in the country, makes it possible for the first time to influence the activity of the SMN2 gene. Biogen agreed as part of the “open-access” program to provide the drug to a small number of patients until it is approved for non-experimental use by the Health Ministry.

The drug will be given in the pediatric intensive-care unit of the hospital run by Dr. Efraim Sadot. It is injected into the spinal canal or subarachnoid space so that it reaches the cerebrospinal fluid. The data resulting from the experiment and any side effects will be used to decide on whether the drug will be provided to all SMA patients, whether their disease is mild or severe. DanaDwek was the only hospital to be selected to use the experimental drug.