Current knowledge regarding clinical meaningfulness and quality of life amongst teens and young adults with spinal muscular atrophy (SMA) is limited. Much of the available qualitative data on this population has been obtained from the perspective of the parents/caregivers rather than the individuals themselves. Knowing this, Cure SMA is pleased to announce the publication of a manuscript, titled “I have SMA, SMA doesn’t have me: A qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA.” This piece, published in the February issue of Orphanet Journal of Rare Diseases, describes the findings of two initiatives to evaluate and raise awareness about the impact that SMA has on adolescents and young adults.
Launched in 2018, Cure SMA conducted the “SMA Teen and Young Adult Clinical Meaningfulness Survey,” a clinical meaningfulness survey used to capture information on the quality of life of this age group. Cure SMA then hosted a video contest to raise awareness about the impact of SMA on the daily lives of teens and young adults, and to learn about their strategies to help navigate experienced challenges. As detailed in the manuscript, adolescents and young adults with SMA candidly discussed their experiences through both initiatives. Individuals highlighted their challenges regarding everyday life, such as the lack of independence, fatigue, and accessibility as it relates to completing activities of daily living.
Also, while individuals noted the importance of relationships with family and friends on emotional well-being, many reported challenges with socialization due to accessibility concerns, activity limitations, and difficulties making friends. However, despite adversity, many adolescents and young adults with SMA are leading productive lives. Participants highlighted numerous academic achievements and interests in a variety of activities, including video games, swimming, and wheelchair sports. To encourage resilience, many also suggested the creation of peer support groups, as well as college and independent living resources.
Cure SMA is indebted to the adolescents, young adults, and families of SMA for their participation in these projects and support of the community. Although current information regarding the quality of life in adolescents and young adults with SMA remains limited, Cure SMA intends to utilize these findings to support and address the unique mindsets, challenges, and motivations of this population. The support programming for teens and young adults remains a key priority at Cure SMA. Current programs include:
- Support Packages for Teens and Adults with SMA
- Medical Alert Bracelet
- Adults with SMA Virtual Evening Socials
- Adults with SMA Virtual Trivia Night
- Adults with SMA Virtual Book Club
This study was financially supported by the Cure SMA Industry Collaboration. At the time financial support was provided, members of the Collaboration included Novartis Gene Therapies, Biogen, Genentech/Roche Pharmaceuticals, Novartis Pharmaceuticals, Astellas, Cytokinetics, and Scholar Rock.
About the Cure SMA Industry Collaboration
The Cure SMA Industry Collaboration (SMA-IC) was established in 2016 to leverage the experience, expertise, and resources of pharmaceutical and biotechnology companies, as well as other nonprofit organizations involved in the development of spinal muscular atrophy (SMA) therapeutics to address a range of scientific, clinical, and regulatory challenges more effectively. It is currently comprised of our partners at Novartis Gene Therapies, Biogen, Genentech/Roche Pharmaceuticals, Scholar Rock, and SMA Europe. Additionally, the work of the Collaboration is supported by funds provided by Novartis Gene Therapies, Biogen, Genentech/Roche Pharmaceuticals, and Scholar Rock.