First gene therapy for children shows positive interim results
Several children with a severe form of progressive muscle weakness have already been treated with a new type of gene therapy at the Medical Center - University of Freiburg / One of the first centers in Germany / Interim results are promising
In recent years, several promising approaches have been pursued to develop drug therapies for patients with severe, progressive muscle weakness known as spinal muscular atrophy (SMA). Since May 2020, five affected children at the Department of Neuropediatrics and Muscle Disorders at the Medical Center - University of Freiburg have been successfully treated with a novel gene therapy drug. The clinic is a certified muscle center of the German Society for Muscle Diseases and part of the Freiburg Center for Rare Diseases (FZSE) and therefore treats many children with SMA. At a cost of more than two million euros per single dose, the drug is the most expensive medication in the world.
"We have already seen an improvement in the symptoms of the children we have treated so far," said Dr. Matthias Eckenweiler, Managing Senior Physician at the Department of Neuropediatrics and Muscle Disorders at the Medical Center - University of Freiburg. The children, aged between one and four years, all suffered from a severe form of SMA.
SMA is a rare, genetic, neuromuscular disease characterized by progressive muscle weakness. If the onset of symptoms is in infancy, patients are unable to sit independently and often even minimal movements against gravity are barely possible when lying down. If left untreated, these severely affected children have a maximum life expectancy of two years.
Long-term progression must be closely monitored
Clinical studies in a small cohort of infants under the age of eight months following treatment with the active substance onasemnogen-abeparvovec / Zolgensma® showed not only a stabilization of the course of the disease, but even a significant gain in motor skills. "Little is known about the long-term course of the disease after treatment with this novel gene therapy, which means that the therapy is associated with complex and close follow-up care," said Dr. Thorsten Langer, Head of the Social Pediatric Center of the Department of Neuropediatrics and Muscle Disorders at the Medical Center - University of Freiburg.
Therapy only possible at certified centers
The drug is the first gene therapy available for the treatment of this disease in Germany. It has been approved for infants with a severe form of SMA. It may only be administered by certified centers with proven experts, such as the Department of Neuropediatrics and Muscle Disorders at the Medical Center - University of Freiburg. "This is a gene therapy that replaces the defective gene segment, so to speak. A viral (AAV9) vector serves as a "transporter" and ensures that the gene enters the cells via the blood. It is therefore sufficient to administer the drug intravenously once," explains Dr. Astrid Pechmann, senior physician and head of the Muscle Disorders Unit at the Department of Neuropediatrics and Muscle Disorders at the Medical Center - University of Freiburg.
Patient data is collected in the SMArtCARE register initiated by the Department of Neuropediatrics and Muscle Disorders and evaluated together with other treatment centers in Germany, Austria and Switzerland. This makes it possible to evaluate long-term therapy successes and optimize existing care concepts.
Contact:
Dr. Astrid Pechmann
Head of the muscle consultation
Department of Neuropediatrics and Muscle Disorders
Uniklinik Freiburg
Phone: 0761 270 44977
astrid.pechmann@uniklinik-freiburg.de
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