Patients Thought Untreatable with Rare Disease Dramatically Improve with Common Gene Therapy

Patients Thought Untreatable with Rare Disease Dramatically Improve with Common Gene Therapy

A lumbar puncture – credit, BruceBlaus CC 3.0. via Wikimedia Commons The real-world results of this phase 3 clinical trial, involving 126 children and adolescents, could support an alternative to lifelong, repeat-dose treatments for people who couldn’t get access to corrective treatment before 2, when curing the condition is possible. Spinal muscular atrophy is a rare genetic condition that causes muscle weakness and loss of movement over time. It develops because the body cannot make enough of a protein, called survival motor neuron, needed for healthy nerve cells. Onasemnogene abeparvovec is a gene therapy that restores production of this missing protein in a single treatment. However, it is currently approved in the US and Europe only as a single intravenous treatment for children under 2 years of age. Therefore, those older than 2 years of age can receive treatments only to slow the disease, and these must be taken regularly, either by injection or orally. The financial burden for pat…