The chief medical officer at Cure SMA offers insight on the current SMA therapeutic landscape and what the organization is focused on going forward.
“This is a disease that was essentially a death sentence for many individuals who were born and developed symptoms before 6 months of age. In the last 4 years, we’ve had 3 treatments approved for SMA…This is groundbreaking work.”
As has been the case for a number of rare diseases in the last decade, breakthroughs in science and advancements in technology have bolstered advancement of the therapeutic pipeline for spinal muscular atrophy (SMA). What was once a devastating terminal diagnosis for patients and their families is now accompanied by hope for survival as 3 disease-modifying therapies have gained regulatory clearance in the last few years.
For those who interact with these patients, such as former pulmonologist Mary Schroth, MD, these approvals have been points of joy. However, much work remains to be done, as Schroth, who is now chief medical officer at Cure SMA, was quick to point out to NeurologyLive. In her role at at the advocacy organization, she hopes to address a lingering challenge in treating this patient population: the recognition and care of these patients. For Schroth, developing evidence-based approaches and information for clinicians who encounter these patients—some of whom are not necessarily trained or equipped to treat them—is paramount to optimizing care.
Additionally, Schroth offers her opinion on the recent approval of risdiplam (Evrysdi; Genentech), the first oral agent for SMA, that opens up treatment opportunities for patients that were previously not available and may invite previously untreated patients to the clinic.