Cure SMA

This closing episode looks ahead to the future of SMA care, examining how updated best practices aim to accelerate access, optimize outcomes, and fuel ongoing progress.

This episode tackles how proactive, interdisciplinary care and dedicated coordination models are transforming the delivery of SMA treatment across clinical settings.

Panelists comment on how treatment decisions for adolescents and adults with SMA are shaped by lifestyle, quality of life, logistical realities, and access to care.

This episode explores treatment considerations for patients already living with SMA, emphasizing individualized goals, medical complexity, and the value of subtle clinical improvements.

In this episode, neurologists unpack the urgent and complex treatment decisions in newly diagnosed SMA, highlighting clinical factors, family input, and the importance of shared decision-making.

In episode 1, panelists explore the evolving SMA treatment landscape, highlighting updated best practices shaped by new therapies, newborn screening, and international expert consensus.

Mary Schroth, MD, FAAP, FCCP, chief medical officer at Cure SMA, shed insight on the advances and promise for treating spinal muscular atrophy, in the context of Rare Disease Day.

In this segment, the panel discussed adult-onset 5q spinal muscular atrophy (SMA), highlighting its frequent underdiagnosis and subtle symptoms such as cramps, fasciculations, and sports intolerance.

The discussion highlighted the need for national or local protocols, insurance approvals, and close collaboration with families to optimize patient outcomes.

In this discussion, experts provide key considerations in the process of newborn screening for SMA, noting the need for developing local protocols and understanding the limitations of screening infants early in life.

In this episode, experts discuss groundbreaking updates in spinal muscular atrophy diagnosis, emphasizing the importance of early intervention and newborn screening.

In this episode, our panel of experts delves into the latest updates on spinal muscular atrophy diagnosis, focusing on the critical role of newborn screening, early intervention, and evolving classification methods for improved patient outcomes.

The director of neurology and neuromuscular medicine at the Children’s Hospital of the King’s Daughters in Norfolk, Virginia, provided clinical perspective on some of the improvements in the everyday life and care of patients with spinal muscular atrophy.

The director of neurology and neuromuscular medicine at the Children’s Hospital of the King’s Daughters in Norfolk, Virginia, discussed SMA Awareness Month and the enhancements to newborn screening for the disease. [WATCH TIME: 4 minutes]

Cure SMA introduces tools aiding in SMA clinical trial navigation and participation empowerment.

Comprised of more than 400 patients with SMA, results showed that wanting to be treated with all possible DMTs was the most common reason for combination therapy.

The pediatric neurologist at Johns Hopkins Medicine provided commentary on the steps needed to improve treatment optimization in SMA, and the unanswered questions regarding the key biology of the disease.

The pediatric neurologist at Johns Hopkins Medicine provided commentary on the subgroup findings from the phase 4 NURTURE study of nusinersen (Spinraza; Biogen) in presymptomatic spinal muscular atrophy. [WATCH TIME: 3 minutes]

The pediatric neurologist at Johns Hopkins Medicine discussed the importance of early diagnosis in SMA, and the notable barriers that come with obtaining disease-modifying therapies. [WATCH TIME: 4 minutes]

After 4 years of treatment, more than 95% of infants on risdiplam maintained the ability to swallow, an aspect of everyday life that is commonly lost within 2 years in patients with SMA.

The director of neurology and neuromuscular medicine at the Children’s Hospital of the King’s Daughters in Norfolk, Virginia, provided background on findings from the phase 4 RESPOND study, and the potential of combining therapeutic approaches in SMA. [WATCH TIME: 4 minutes]

Mary Schroth, MD, and Jacqueline Glascock, PhD, of Cure SMA, share their perspectives on the upcoming annual meeting.

Advocacy organization Cure SMA provides insight on the importance of continuing to push for standardized newborn screening and how it can positively impact outcomes in SMA.

Suggestions from Mary Anne Ehlert, founder and president, Protected Tomorrows, include getting involved with the community and making the most of benefits and programs.

Advocacy organization Cure SMA recap their recently concluded meeting, with notable presentations and medical education sessions led by world leaders.

The manuscript was published in the May 2021 issues of BMC Pediatrics.

A pharmacokinetic/pharmacodynamic model indicated that the exposures predicted with a higher dose of nusinersen may lead to more clinically meaningful increases of at least 5 points on CHOP INTEND score.