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Dr. Richard Finkel
Dr. Richard Finkel, division chief of neurology and a specialist in neuromuscular disorders at Nemours Children’s Hospital is conducting the first targeted drug trial for Spinal Muscular Atrophy (SMA). SMA is a severe genetic neuromuscular disease that destroys the nerve cells that control voluntary muscle activity such as speaking, walking, breathing, and swallowing. Most infants with this condition do not live past 2-years-old without major nutritional and breathing support.
“We are in the early stages of the trial but the development of this drug could allow children with a genetic death sentence to live, breathe and perhaps someday walk, that is our hope,” Dr. Finkel said.
According to the Spinal Muscular Atrophy Foundation, one in 10,000 children is born with the disease and approximately six million Americans are carriers of the SMA gene. SMA has multiple forms which vary in severity. The most severe form (Type I) manifests before 6-months of age and generally results in death before age 2. Patients with milder forms of SMA may not have symptoms of muscle weakness until much later in childhood or even as adults.
Only eight children around the world will be part of this groundbreaking trial that is being conducted in only four locations: Nemours Children’s Hospital, The Stanford University Medical Center in California, Columbia University Medical Center in New York and The Hospital for Sick Children in Toronto. Currently, the clinical trial is fully enrolled with two of those young patients being treated at Nemours Children’s Hospital.
Nemours researchers are conducting ‘genetic surgery’ to fix the "bad" gene and turn it into a "good" one. This will hopefully allow children with this genetic disease to live healthier lives. This project marks several firsts for Nemours Children’s Hospital including the first in-patient clinical trial for a neuromuscular disease. The trial is expected to last one year.