According to a story from BioSpace, on June 7th, 2019, Londyn Wright became the first baby in the US to receive Zolgensma, a recently approved gene therapy treatment for the rare neurodegenerative disorder spinal muscular atrophy. She was just four months old. With this treatment, Londyn’s life will be transformed and she will be able to develop normally, without the effects of the disease. Without it the gene therapy it is unlikely she would have survived past her first birthday.
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. In many cases, the disease is lethal. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. The most effective treatment currently available for the disease is called Spinraza. To learn more about spinal muscular atrophy, click here.
Londyn received the therapy UF (University of Florida) Health Shands Children’s Hospital. As it turns out, two scientists associated with UF Health, Dr. Kenneth Berns and Dr. Nicholas Muzyczka, played a critical role in the development of gene therapy by pioneering the use of adeno-associated viruses (AAV) as the most common method of delivery in gene therapies, including Zolgensma. For the first treatment to be administered there is especially fitting.
Karen and her husband David first became concerned when Londyn was around two months old. She seemed to have development delays and her legs were not moving normally. She would also become lethargic and tire too easily. By May 21st, the diagnosis had been confirmed: Londyn had spinal muscular atrophy. In an instance of miraculous timing, the FDA approved Zolgensma for public use just three days later.
While it may take some times before the effects of the therapy take hold, for now Londyn and her family are just thankful that such as powerful treatment option was available to them.