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New hope for the leading cause of genetic infant mortality

Posted at 2:59 PM, Nov 14, 2019
and last updated 2019-11-14 16:59:02-05

Spinal Muscular Atrophy (SMA) is a rare and devastating genetic disease that leads to progressive muscle weakness, paralysis and, when left untreated in its most severe form (Type 1), death. It is caused by a lack of a functional gene which is responsible for producing a critical protein needed by the body, resulting in the rapid and irreversible loss of motor neurons, affecting all muscle functions, including breathing, swallowing and basic movement.1,2 For parents of children born with rare and potentially deadly conditions, such as SMA, caregiving takes on a whole new meaning and the struggle to provide constant care to these children along with other family members, can take its toll. This National Family Caregivers Month we’d like to shine a light on the role of caregivers and their support systems – from diagnosis, to making treatment decisions, to handling everyday care.

Years ago, doctors who diagnosed patients with SMA told parents to take their child home and make them comfortable and love them, because it wasn’t likely that the child would live to reach a milestone like their second birthday. Today, with advances in treatment, families and caregivers who have a child with SMA are able to change the course of their disease. Earlier this year, the U.S. Food and Drug Administration (FDA) approved a gene therapy called Zolgensma® (onasemnogene abeparvovec-xioi) that addresses the genetic root cause of the disease by replacing the function of a missing or faulty gene with a new working copy of the gene in order to restore the production of the needed protein. Zolgensma is approved to treat pediatric patients less than 2 years of age with spinal muscular atrophy (SMA).

To help us continue to drive change for patients and give hope and tips and resources to their families and caregivers, we are speaking with Dr. Proud, a leading expert in the treatment of SMA, and Samantha Lackey whose child is living with SMA. For Samantha Lackey, whose daughter was diagnosed with SMA at one month old, she learned the importance of advocating on behalf of her daughter from diagnosis to treatment with gene therapy and in their everyday lives.

DID YOU KNOW?

  • If left untreated, SMA Type 1, which is the most common type, leads to death or the need for permanent ventilation by the age of two in more than 90% of children with this type of SMA.3
  • Degeneration and loss of motor neurons start shortly before birth and escalate quickly, with >95% loss by 6 months of age, which makes early diagnosis and treatment critically important.2,4,5
  • Untreated SMA Type 2 patients will never walk without support and often need a wheelchair.5 More than 30% of patients with SMA Type 2 will die by age 25.7
  • Many primary care physicians are unfamiliar with SMA symptoms, which leads to delays in diagnosis and treatment due to a “wait and see” approach when patients present with initial symptoms or exhibit lack of motor milestone achievement.8
  • SMA experts recommend universal newborn screening to facilitate identification, diagnosis, treatment and supportive care as early as possible; however, only 14 states nationwide currently screen for SMA.
  • Gene therapy is designed to provide a functional copy of a gene to halt disease progression.6

For more information, please visit: www.CureSMA.org [curesma.org]