Mary Schroth, MD

“At this time, the technology has not evolved to be able to pick up those point mutations in that 5% that doesn’t get picked up by newborn screening.”

Every time a rare disease, such as spinal muscular atrophy (SMA), gets a medicine approved for use, advocacy organizations rejoice the addition of a therapeutic option. But the work does not stop there. As Mary Schroth, MD, chief medical officer, Cure SMA, noted in an interview with 

, rare diseases tend to have needs that expand further than just new agents.

Schroth explained that even if the organization achieves one of its bigger goals—getting newborn screening initiated in every state in the US—somewhere around 5% of infants with SMA will still remain unidentified due to the limitations in the technology. Because of this, advocating for new methods of screening and better education for the identification of these patients has become a vital step in the process.

Additionally, Cure SMA has a “wish list” of sorts for the next few years. Schroth noted that the organization is actively working toward a number of items on this list and detailed the expectations she has for the targets that the organization has, ranging from improving access to medicines to collecting better patient data to improve individualized care.

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The chief medical officer at Cure SMA spoke to the ongoing work that the organization does in advocating for patients with spinal muscular atrophy, particularly for newborn screening.


Mary Schroth, MD: Cure SMA’s Ongoing Advocacy Initiatives

That’s really been the crux in treating SMA—early recognition. We know through the clinical trials of each of the therapies that are available that they’ve studied them in pre-symptomatic infants. We know regardless of the treatment, the sooner it’s initiated, the better the outcome.

In spinal muscular atrophy (SMA), there exists a phenomenon called the diagnostic odyssey. It refers to the sometimes excruciatingly long time it can take for an infant or child to be diagnosed with SMA. In recent years, Cure SMA and other organizations have pushed for the expansion of newborn screening in an attempt to identify these patients sooner, with hopes that it would improve the speed to treatment for them, in turn.

Although, as Mary Schroth, MD, chief medical officer, Cure SMA, noted in an interview with 

, even if the organization achieves its goal of getting newborn screening initiated in every state in the US, around 5% of infants with SMA will still remain unidentified. This, Schroth explained, highlights the difficulties of early identification, one the largest remaining challenge in SMA.

Schroth described the current status of that challenge and the role that early identification can play in changing the lives of patients. She also explained how physician education on the recognition of these patients as having SMA may help address that 5% that slips past newborn screening.

The chief medical officer at Cure SMA detailed the importance of having options for patients and how certain administration routes and schedules offer more personalized approaches, particularly for adult patients with SMA.

Mary Schroth, MD: The Challenge of Early SMA Recognition

“We’re just so excited that we’re making this a different disease now. SMA as I knew it as a clinician is going away, and I’m happy to say that.”

When a treatment is approved and subsequently introduced to the clinical landscape of disease, regardless of whether it is the first or the tenth agent for that disease state, at the very least, it offers patients something incredibly important: an option. In the case of a disease such as spinal muscular atrophy (SMA), where the number of therapies is rather limited, this impact is particularly monumental.

Each approval in SMA also offers those in positions of advocacy, such as Mary Schroth, MD, chief medical officer, Cure SMA, a unique opportunity. Schroth, a former pulmonologist, told 

 that the belief on their end is that no treatment is one-size-fits-all, so the more options, the better. Now, with the 

recent approval of risdiplam (Evrysdi; Genentech)

, patients with SMA will have an oral therapy available, joining the 2 other agents, AveXis’s gene therapy Zolgensma and Biogen’s nusinersen (Spinraza).

In this interview, Schroth detailed the importance of having options for patients and how certain administration routes and schedules—as well as differing indications—offer more personalized approaches, particularly for adult patients with SMA. She also explained Cure SMA’s role in advocating for patients to get treatment, and how each new agent impacts its ability to do so.

The chief medical officer at Cure SMA detailed the importance of having various treatment options for patients, particularly for adults with SMA.

Mary Schroth, MD: The Impact of FDA Approvals on SMA Advocacy

“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 

. 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&mdash;is paramount to optimizing care.

Additionally, Schroth offers her opinion on the 

, 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. 

The chief medical officer at Cure SMA offers insight on the current SMA therapeutic landscape and what the organization is focused on going forward.

Mary Schroth, MD

Articles

Mary Schroth, MD: Cure SMA’s Ongoing Advocacy Initiatives

Mary Schroth, MD: The Challenge of Early SMA Recognition

Mary Schroth, MD: The Impact of FDA Approvals on SMA Advocacy

Mary Schroth, MD: Making Strides in Treating Spinal Muscular Atrophy