IGT Patient Perspective: Cure SMA


September is Newborn Screening Awareness Month, a dedicated time to educate the public about this critical screening. IGT advocates for the reauthorization of the Newborn Screening Saves Lives Act, which expired in September of 2019, and provides vital funding for continuing the program. We also urge Congress to consider opportunities to ensure the entire U.S. newborn screening ecosystem, including the federal RUSP process and states, can keep pace with transformative new technologies.

This is a particularly important time for IGT Patient Advisory Council Member Cure SMA since newborn screening can lead to early diagnosis and early treatment of many babies born with spinal muscular atrophy in the U.S.

What is SMA?

Spinal muscular atrophy (SMA) is defined as a neuromuscular disease of the central nervous system that results in the deterioration of motor function and strength over time, although the rate and severity vary. SMA is a serious, life-threatening condition that affects children when they are very young, and it's not a matter of if symptoms will set in, it's a matter of when. This means that early diagnosis is key in offering the best possible outcome for patients. One way this can be achieved is through widespread adoption of newborn screening for SMA.

Thanks to the advocacy of individuals and families affected by SMA and the leadership of state officials, 32 states have implemented newborn screening for SMA, representing close to 7 in every 10 babies born in this country. However, the U.S. still remains well short of the goal of 100 percent universal newborn screening for SMA. With the availability of treatments, including gene-modifying therapies, these are missed opportunities to have an impact on these young patients’ lives.

What is Cure SMA doing to help?

Since 1984, Cure SMA has been dedicated to the treatment and care of patients living with SMA and their families. The organization has grown to be the largest network of individuals, families, clinicians, and research scientists working together to advance SMA research, support people impacted with SMA, and educate public and professional communities about SMA.

Cure SMA has directed and invested in comprehensive research that has shaped the scientific community's understanding of SMA, led to breakthroughs in treatment and care, and provided individuals and families the support they need.

Why is gene therapy so important for the SMA community specifically?

In the case of SMA, once motor neurons are lost, they cannot be regained. Gene-modifying therapies, which target the underlying root causes rather than just symptoms, play an important role in changing the course of a disease like SMA. While this may not mean patients are symptom-free for life, it could dramatically reduce the amount of medical interventions needed in their future.

Thanks to the dedication of the SMA community and the ingenuity of researchers, a number of patients may benefit from innovative treatments today. There are currently three treatments with FDA approval targeting the underlying genetics of SMA. By taking action to treat SMA as early as possible, even before the first signs of the condition, patients can dramatically improve their quality of life and maximize health outcomes.

How can IGT help the SMA community?

Exploration into the development and use of gene therapies is an important part of advancing the treatment landscape for a variety of genetic diseases, especially rare conditions like SMA. But the value of innovation in disease management is not always immediately appreciated by those outside the fields of science and research. Once therapies are approved by the FDA, it’s critical that patients can access it. IGT works with stakeholders across the healthcare system to help educate them about the benefits of gene therapy and ensure the right policies are in place for insurance coverage of these transformative treatments.

When it comes to SMA, time is of the essence. Learn more about Cure SMA here.

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The Institute for Gene Therapies advocates for a modernized regulatory and reimbursement framework that encourages the development of transformative gene therapies and promotes patient access. 

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