Mary Schroth, MD, FAAP, FCCP

Transcript below. Transcript edited for clarity.

Hello and welcome. I'm Dr. Mary Schroth, chief medical officer at Cure SMA.

 And I'm Jackie Glasscock, Vice President of Research at Cure SMA. We're excited to talk a little bit today about the 2022 Annual Research and Clinical Care Meeting, which will be held June 15, through June 17, in Anaheim, California, at the Grand Californian Hotel.

 So we will have three days of research and clinical care. We want to point out to you that the first day on Wednesday, June 15, we will have concurrent sessions, one session will be the clinical care session. And in parallel to that will be a basic science session, the clinical care session is will be accredited for multiple disciplines. For the duration that day, the remainder of the meeting will be research and clinically focused with a lot of collaboration back and forth between the interplay of research and care. We look forward to seeing you please join us.

 This is our first kind of post-pandemic—although I don't know if we can say post quite yet—but this is our first in-person meeting since 2019. And so we're very much looking forward to having the whole community be back together in person. I'll also mention that the research and clinical care meeting runs in parallel with our Annual SMA Conference that's intended for individuals affected by SMA and their loved ones, caregivers, and families, etc. So, there's opportunity for interaction, although the meetings are to two separate events. 

One of the themes that we're emphasizing this year is kind of an emphasis on basic research and a commitment to continued investment into basic research with three approved therapies. For SMA, we've certainly made really historic strides and treatment and things that were that are available to people living with SMA. But our work is certainly not finished and to continue to ensure a robust drug pipeline. Basic research into key biological questions is very important, and so we're continuing to be sure that we continue that investment as Cure SMA, and that we promote basic research in the community as a whole. Mary, do you want to say anything about clinical care?

 Absolutely, absolutely. So we are focused on research. But we also know that even with these three treatments that are available, that care is critically important, you have to have excellent clinical care in order to optimize the outcomes for these treatments. So part of this meeting is also dedicated to providing updates regarding clinical care and management. The clinical care session of the research and clinical care meeting will occur on Wednesday, June 15, and that will occur over the entire day.

Our special sessions are focused on ethics. Our clinicians, very much talk about ethics and some of the challenges involved with making decisions, especially in view of the fact that we don't have all the information, all the research that we need to make the best decisions about who should be on which treatment and how to use these treatments, should treatments be used together? As Jackie said, we're we're not done, we don't have a cure for SMA, we have three treatments, and they're and they're very good. But they're not curing this disease. And we still have a lot to learn. So the clinical care session really allows clinicians to get together, talk about the issues that are really important to them, and teach each other about where we are with clinical care. 

I'm just going to go on a little bit more. In addition to ethics, we also will be focused on nutrition this year, we'll have an hour presentation by several nutritionists, three nutritionist who are part of medical advisory council, plus additional abstracts that were submitted to the conference related to nutrition. So we're very excited about that. And we're going to talk about newborn screening, we have an hour long session on updates regarding newborn screening around the world. I'm going to turn it back to Jackie just so that she can talk more about the Thursday morning session that we're really excited about.

Thanks! We're having a what we call a special session. So the rest of the talks in the meeting are abstract-driven, they're all selected from submitted abstracts. But our special session is an invited speaker session. And so we have curated a session that we're calling reverse translation, so this idea of taking what we're learning in the real world and in the clinic and then allowing that to inform our basic research questions. We have an exciting lineup of clinicians and scientists that will be speaking on various aspects of clinical and real world observations, kind of over the treatment and age and disease spectrum as well, so what we're learning from children who were diagnosed and treated early and what we're learning from adults who are treated later in an age and disease progression. Then, how those things that we're learning and what questions do we need to ask to answer the underlying biological questions of how patients are responding to treatment and such. 

Following those talks, we will have a panel discussion, where everyone in the audience in the audience will be both clinicians and scientists for that session, we'll be able to ask questions interact with the speakers, and we're hoping to really promote a good dialogue that will carry on even after the session and the meeting ends, and inform people's research and the kind of thoughts about, about the science moving forward. We routinely hear from scientists that they're very curious about what is happening in the clinic, and I think the clinicians as well, are curious about what's happening in the lab. So it's a chance to really encourage that dialogue.

 The crosstalk that crosstalk is so critically important. And I'm again, I'm just really excited for this Thursday morning session. So one of the very unique parts of our research and clinical care meeting is that it occurs in parallel with the Annual SMA Conference, which is our family and community conference, where all of our individuals affected by SMA, their family, their friends, their caregivers all come together to hear special sessions directed to them as an audience. 

Then, the researchers and clinicians have an opportunity along with the patients and families in the evenings to get together socially. So one of our most exciting and fun events is that on Thursday evening, we have a meet and greet. The meet and greet is in a sort of carnival-type setting—we didn't share with you that our meeting is at Disneyland this year. So we're really excited about that as well, because it is truly where the magic happens. Our families enjoy being there, and our researchers and clinicians also all enjoy being there. Then, when they're together, it is just incredible synergy and energy in the room. Jackie, do want to talk about the event, that's really special?

We have what we call our community friendly poster session. And so this is an opportunity for clinicians and researchers to make a poster that's intended for individuals with SMA and their caregivers, all those in attendance at the annual conference to view. It's a little less, kind of, technical than the posters for the research and clinical care meeting. But they contain a ton of data on things like clinical trials, basic research going on, and the latest in clinical care. 

We invite about 40 people to participate in this session and the families are able to go around, visit the poster, and speak with the scientists and clinicians presenting them. And it's just a really great way to promote dialogue between the clinicians and scientists there and the the individuals attending the the annual conferences, well, we get great feedback every year, people really enjoy it on both sides of of the equation. It's just a really fun time and a chance for the clinicians and scientists to get feedback from patients and families on what matters to them and what's important to them and the clinicians and researchers to ask questions of the families and vice versa. It's a really great opportunity. We introduced this in 2013, and every year we get emails from people asking if we're doing it again, and so of course, we're pleased to continue the tradition of the community poster session. 

This is the longest-running and largest meeting dedicated to SMA, and so is the place for all of the clinicians and researchers who are, you know, in this space together, and I really think that it provides a great deal of networking opportunities and that sort of thing. The content of the meeting is great as well. So we all have an outlet, Mary spoke to the clinical care session, but we'll have updates and basic research. So we'll be able to learn and kind of what the state of the field is from the basic science perspective, we have updates in clinical research things like outcome measures, patient reported outcome measures, newborn screening, that sort of thing. 

Perhaps the most anticipated session of the meeting is the drug development or clinical trials session. We'll be able to hear the latest data cuts from each of the companies and industry representatives who have drugs and clinical trials. And so that's a very exciting session and a session that a lot of people look forward to as well to get those those latest updates on especially on some of these drugs that are in later stage clinical trials.

 I would add to that, that, also critical to this. To come into this meeting is the opportunity to network to network with researchers who have been in this field for a long time and with newer researchers, who were just learning about SMA and how to leverage their areas of interest into something that could produce potentially a treatment down the road. Similar for clinicians, there is an incredible network of clinicians focused on SMA care, and having a better understanding of what it means to have SMA for our patient and family community. So I think the application network along with the educational things that we provide is just tremendous. And for the clinical care session, we also offer continuing medical education and continuing education credits for physicians, nurses, pharmacists, nutritionists, physiotherapists, occupational therapists, genetic and genetic counselors, all of these, this accreditation is has been applied for. And we're in the process of having that by the time of the meeting.

And I'll just add on to that, that we also will be having two poster sessions with the research and clinical peer meeting. And those are also great opportunities to, to network to talk to people about their clinical practice and their science. And one of them comes with a cocktail reception as well. So that adds to the allure.

So in my role as chief medical officer curious to me, I'm looking forward to our in-person conference, because I haven't seen anyone for three years—it feels like it's been for ever. So having the opportunity to connect with my colleagues around the world, to have those conversations have those conversations that are not necessarily as much fun or more difficult to have, when we're doing via video chat or over the phone. That being connected. It's just so important. But then not only just our not only our professional community, but also our patient family community, because they're the ones that teach us the most about SMA. I've been going to this conference for a long time since 1988. And every time I go, I learn new things. Families teach me new things, colleagues, colleagues teach me new things. It's just an incredible experience. I cannot say enough about it. From my first meeting, I have not missed it because it was just something that I felt compelled to attend every year. 

Yeah, I read echo what Mary said, and I'm really excited to be able to be back in person and to see everyone again, I think the SMA community is just such a unique and rare community not only rare in the rare disease sense, but there's such a sense of community and support and wanting to learn from everyone. And really just, it's a great atmosphere, atmosphere of learning and atmosphere of support and connection and just fostering that sense of community. So I'm really just looking forward to being able to to be a part of that again, and then they can't really capture that in Zoom, as Mary was saying. So just being back in person learning, the latest science and clinical updates, but also just seeing everyone and building that sense of community as well.

 Yes, like, I can't wait to have our community again, together again. It's just it's something you can't replicate. You just have to be there.

Videos

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

2022 SMA Research & Clinical Care Meeting: What to Expect

September is Newborn Screening Awareness Month, which 

raises awareness that newborn screening is a public health program designed to identify conditions that affect a child’s long-term health or survival. This month offers an opportunity

 to talk about the progress we have made in getting 

Newborn screening for spinal muscular atrophy (SMA) has become an expectation in the United States. The FDA approval of the first disease-modifying therapy for SMA in 2016 provided effective early treatment. This approval opened the path to adding SMA to the federal Recommended Uniform Screening Panel (RUSP) in 2018, making it one of the disorders the Secretary of the US Department of Health and Human Services (HHS) recommends for states to screen as part of their state universal newborn screening programs.

In 2008, the first nomination to consider SMA for newborn screening was denied because there was not an effective treatment for SMA at the time, and no state pilot programs had been initiated. However, in February 2017, a multidisciplinary team led by Cure SMA resubmitted a nomination for SMA, which was accepted for full evidence review. This was supported by an SMA newborn screening pilot program that was initiated in New York State in 2016, in addition to having an FDA-approved treatment. The Condition Review Workgroup completed their review, and in February 2018, the Advisory Committee on Heritable Disorders in Newborns and Children met to deliberate the evidence and voted to recommend adding SMA to the RUSP. The HHS Secretary signed the recommendation in July 2018, officially adding SMA to the RUSP.

In January 2018, just prior to adding SMA to the RUSP, the state of Utah began permanent SMA newborn screening, followed shortly after by Minnesota and later by the state of New York. That same year, pilot SMA newborn screening studies began in Massachusetts, Indiana, and North Carolina.

By the end of 2019, 10 states in the US had implemented permanent screening and 3 additional states began pilot programs. In 2020, 17 new states implemented SMA newborn screening, making it the most successful year to date in implementing newborn screening for SMA. As of June 2021, 38 states are screening for SMA through permanent SMA screening programs and pilot or population screening programs (

). This means that nearly 85% of all infants born in the US are now screened for SMA. Cure SMA, in partnership with the SMA community in nonscreening states, continues to advocate for and support implementation, with a goal of 90% of US newborns being screened for SMA by the end of 2021.

Shortly after birth, infants are tested for multiple serious disorders that may not present clinically at birth. Early diagnosis facilitates early treatments before harmful effects occur. To screen for diseases, such as SMA, a blood test is performed 24 to 48 hours after birth. If a condition is identified, parents are immediately notified, and follow-up diagnostic testing is conducted. This public health process for early diagnosis provides both medical care teams and families with the ability to seek out resources and treatments before the onset of serious and often irreversible symptoms that could drastically affect a child’s life.

SMA is caused by a mutation in the survival motor neuron gene 1 (

). In a healthy person, this gene produces a protein—called survival motor neuron protein or SMN protein—that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.

The newborn screening assay detects the presence or absence of deletion of the 

gene at exon 7 and does not detect point mutations. Therefore, approximately 3%-5% of infants with SMA will not be detected via newborn screening and will present with symptoms of hypotonia.

Newborn screening is essential to providing early SMN-enhancing treatment and achieving the best possible outcomes for infants born with SMA. Clinical trials of each SMN-enhancing treatment in symptomatic SMA infants younger than 6 months of age have demonstrated significant motor function improvement and survival compared to natural history.

 Ongoing clinical trials of infants with SMA treated prior to the development of symptoms have also yielded significantly altered disease outcomes compared to natural history.

 Because the loss of motor neurons that impact a baby’s motor function is irreversible with SMA, SMA healthcare providers often say that "time is neurons."

A child with suspected SMA, or presenting as SMA newborn screening positive, requires emergent evaluation by a neuromuscular specialist, ideally within 2-3 days, confirmatory genetic testing, counseling about SMA disease, and discussion of treatment options. If symptomatic and identified to have just one copy of 

gene sequencing is indicated to look for a point mutation.

 Consensus expert opinion recommends offering and efficiently providing treatment for infants with 1-4 copies of 

(often referred to as the SMA “back-up gene”).

To better understand the impact of SMA newborn screening over time, Cure SMA has established an SMA Newborn Screening Registry. Families with an infant diagnosed with SMA via newborn screening, or prenatally, are encouraged to enter data in Cure SMA’s Newborn Screening Registry.

Families can also consent for their providers to enter data on their behalf. As of August 9, 2021, there are 43 newborns in the Registry. More information is available at 

www.curesma.org/newborn-screening-for-sma/

Families with an infant or child diagnosed with SMA are eligible to receive an Information Packet and Newly Diagnosed Care Package from Cure SMA. We encourage healthcare providers to share the Cure SMA website information with their patient’s families, namely our pages for newly diagnosed families. If you would like to have educational materials in your clinic, including resources that have been translated into multiple languages, please complete the 

Cure SMA Care Series Publications & Clinic Materials Order Form for Health Care Providers

Cure SMA Care Series Publications Order Form for Individuals and Families

Cure SMA’s primary focus is to support care of the highest value to individuals with SMA. In 2018, SMA standard of care guidelines were updated and approved based on consensus, due to limited evidence. With the advent of effective treatments and the implementation of newborn screening, the need for an evidence-based standard of care for people with SMA is needed now more than ever. To create the evidence needed for this, Cure SMA established the Cure SMA Care Center Network and SMA Clinical Data Registry to collect a cross-section of real-world data about SMA care.

As of today, the Cure SMA Care Center Network has 19 sites across the country, representing SMA care for both children and adults. The Network is supported in part by a grant from the Oscar G. and Elsa S. Mayer Family Foundation and an endowment from Bill and Susan Orr and the Tyler William Orr Memorial Fund.

Centers, a collection of neuromuscular clinics with clinical expertise, provide multidisciplinary care for people with SMA. A large component of the Care Center Network is the utilization of the SMA Clinical Data Registry. Clinicians and patients with SMA and their families are focused on speeding insight and understandings of the disease. To move quicker than ever before, the registry is designed to automate the electronic transfer of consented patients' medical record data directly from the EMR to the Cure SMA Clinical Data Registry platform. This reduces the burden for clinicians and further speeds the ability to see insights in live time to assist with changing outcomes and standards of care. Currently, there are 600 patients in the registry with patients from 38 states. This clinical information is real-world evidence that will be used to guide the best care, develop insights into therapeutic interventions, and create evidence-based standards of care for SMA.

The growth of the Cure SMA Care Center Network and SMA Clinical Data Registry will also be supported by Cure SMA’s recently launched Real-World Evidence Collaboration. This Collaboration will deliver an expanded and validated clinical dataset to be used in the development of the updated standards of care on diagnosis, SMA treatment considerations, and mental and emotional health, as well as adding 10 sites to join the Cure SMA Care Center Network.

Support provided by the Cure SMA Newborn Screening Coalition. Members include Cure SMA, Novartis Gene Therapies, and Genentech.

Members of the Cure SMA Real-World Evidence Collaboration include Cure SMA, Biogen, Genentech, Novartis Gene Therapies, and SMA Europe.


1. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. 

. 2017;377(18):1723-1732. doi:10.1056/NEJMoa1702752
2. Mendell JR, Al-Zaidy S, Shell R, et al. Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy. 

. 2017;377(18):1713-1722. doi:10.1056/NEJMoa1706198
3. Day JW, Finkel RS, Chiriboga CA, et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. 

. 2021;20(4):284-293. doi:10.1016/S1474-4422(21)00001-6
4. Baranello G, Darras BT, Day JW, et al. Risdiplam in Type 1 Spinal Muscular Atrophy. 

. 2021;384(10):915-923. doi:10.1056/NEJMoa2009965
5. De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. 

. 2019;29(11):842-856. doi:10.1016/j.nmd.2019.09.007
6. Strauss KA, Muntoni F, Farrar MA,  et al. Onasemnogene abeparvovec gene therapy in pre-symptomatic spinal muscular atrophy (SMA): SPR1NT study update in children with 2 and 3 copies of SMN2. Presented at: Cure SMA Research and Clinical Care Meeting; June 9-1, 2021; Virtual.
7. Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. 

. 2018;28(2):103-115. doi:10.1016/j.nmd.2017.11.005.
8. Glascock J, Sampson J, Connolly AM, et al. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. 

. 2020;7(2):97-100. doi:10.3233/JND-190468

Articles

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. 

Newborn Screening Awareness Month: Understanding the Impact of Newborn Screening for SMA

“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.

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: Making Strides in Treating Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive weakness of the skeletal and respiratory muscles.

 It is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, and breathe. The predominant symptoms of 

 include hypotonia and weakness in the trunk and limbs. In more severe cases, this leads to respiratory insufficiency, compromised swallowing and feeding, and often death.

SMA is caused by a homozygous deletion of the survival motor neuron gene 1 (

), and the associated reduction of full-length SMN protein that is critical to the function of motor neurons of the anterior horn.

 With the absence of SMN protein, motor neurons cannot properly function and eventually die, leading to the debilitating, progressive and, when untreated, fatal muscle weakness as described above.

 The presence of the survival motor neuron 2 (

) “back-up” gene produces some, but insufficient, amounts of the fully functional SMN protein necessary for motor neuron function and survival. Variance in 

 copy number is inversely correlated with disease severity, and thus increased copies are associated with a milder phenotype.

 There are 4 primary types of SMA based on the age that symptoms begin and highest motor milestone achieved.

For additional information regarding SMA phenotypes, clinical presentation, and care management, please visit

Guidance for Health Care Providers Regarding the Impact of Coronavirus (COVID-19) on Individuals Affected by SMA

Although little is known regarding the immediate impact of COVID-19 on SMA, affected individuals are at higher risk of developing complications from viral respiratory infections.

 As such, members of the SMA community are encouraged to practice infection control and isolation. Despite the current strain on the healthcare system due to high rates of COVID-19 nationwide, it remains a high priority that people with SMA have access to the lifesaving treatments that are approved by the US Food and Drug Administration (FDA).

 Three SMN-enhancing treatments are currently available. Nusinersen (Spinraza; Biogen), an antisense oligonucleotide administered intrathecally, is approved for all types of SMA in pediatric and adult patients.

 To initiate treatment, 4 loading doses are completed within the first 2 months with subsequent administration of maintenance doses every 4 months.

 Onasemnogene abeparvovec-xioi (Zolgensma; AveXis), a gene-replacement therapy administered via intravenous injection, is approved for all types of SMA for children up to 2 years of age.

 Risdiplam (Evrysdi; Genentech), an orally administered small molecule 

 for the treatment of all SMA types in patients aged 2 months and older. Timing of administration of all available treatments is crucial to maximize outcomes and prevent the rapid and irreversible loss of motor neurons.

 Thus, SMA treatments are essential procedures and dosing should not be delayed.

Despite this urgency, the ongoing pandemic has impacted the delivery of treatment to individuals affected by SMA. In an effort to measure the impact of COVID-19 on the SMA community, Cure SMA launched a survey in tandem with offering support packages of supplies needed during the pandemic.

 As of June 1, 2020, 1513 individuals completed the COVID-19 survey, with the majority (65.2%) of these individuals being parents of an affected individual and 32% self-reporting as an adult with SMA.

 Although very few respondents acknowledged having been diagnosed with COVID-19 (0.34%), the pandemic has had a substantial impact on the ability for members of the SMA community to receive timely treatment or SMA-related care.

 More specifically, 37.8% had a healthcare provider (or clinic) cancel or delay an appointment for SMA-related care, and 42.2% had their SMA-related services (e.g., physical therapy) delayed or cancelled due to COVID-19.

 Also, about 1 in 5 individuals have had their healthcare provider (or clinic) cancel or delay an appointment for receiving their SMA treatment due to COVID-19 

FIGURE 1. Impact of COVID-19 on the Ability for Members of the SMA Community to Receive Timely SMA-Related Care or Treatment

To measure the impact of COVID-19 on the SMA community, Cure SMA launched a survey in tandem with a COVID-19 Support Package. Between April 7, 2020 and May 31, 2020, 1513 individuals with SMA, SMA caregivers, and SMA family members completed this survey regarding the impact of COVID-19 on their daily lives dealing with SMA.

Healthcare provider teams are encouraged to work with individuals affected by SMA and families to schedule SMA treatment administration to occur on time.

 Planning should include strategies to avoid possible COVID-19 exposure for this high-risk community, such as pre-registration, avoiding waiting rooms, and being placed in a procedure room shortly after arrival to the treatment facility.

Additionally, the ongoing pandemic has significantly affected the delivery of pediatric care. The implementation of shelter-in-place and stay-at-home orders has led to a decline in well-child visit rates nationwide, ultimately causing delays in developmental screening and surveillance.

 In the absence of newborn screening for SMA, the clinical diagnosis of SMA relies heavily upon the recognition of early symptomatology by providers within the pediatric medical home. As part of ongoing monitoring of diagnostic rates nationwide, Cure SMA has noted a decline in clinical diagnosis since the declaration of emergency in March 2020 

FIGURE 2. Cure SMA First Contact: Newly Diagnosed Per Month

This chart reflects number of newly diagnosed first contacts to Cure SMA since January 2019. Individuals are considered to be newly diagnosed if they have been diagnosed with SMA within the last year.

The diagnosis of SMA is a medical emergency. Although the full impact of COVID-19 on diagnostic delays in SMA remains unknown, providers are encouraged to remain vigilant and to promptly rule out SMA via 

For additional information, please review Cure SMA's COVID-19 and SMA Webinar for Healthcare Professionals 

Cure SMA’s Direct Support for Individuals and Families Affected by SMA

Quarantining is essential for individuals and families who live with SMA, many of whom are experiencing hardships due to the COVID-19 pandemic. In response, Cure SMA has launched 2 programs designed to help alleviate some of the financial burden for those in the SMA community.

 offers a $50 gift card to help with purchasing items such meals, groceries, or other essential supplies during the pandemic.

 is a temporary program to assist members of the SMA community obtain essential items that may be difficult to locate, such as hand sanitizer and antibacterial wipes. Additional items promoting family engagement, such as activity books and games, are also included.

Each program is extended to any household who has an individual diagnosed with SMA. Please note, there is a limit of one (1) gift card per household and cards are available on a first come, first serve basis as supplies last. Applicants must reside within the United States.

Cure SMA thanks our generous donors and sponsors, whose contributions make this effort possible. A special thanks to AveXis, Biogen, Genentech, and Ionis for their additional support of Cure SMA’s new COVID-19 Support Programs.

Cure SMA continues to closely monitor the impact of COVID-19. While community engagement remains important, the health, safety, and well-being of the entire SMA community is our top priority. In an effort to provide accurate and timely information regarding the impact of COVID-19 on the SMA community, Cure SMA has developed a COVID-19 Information Center. The website houses a variety of resources for healthcare providers, individuals, and families affected by SMA. A list of provider resources to assist with ongoing management of patient care, including guidance for telehealth, recommendations for home-based ventilation patients, and advocacy letter templates are freely available on the page. Cure SMA has also provided a number of prepared and template letters for providers and families to support sustained treatment and flexibility in care delivery. For the latest in guidance, community resources, and care recommendations, please visit 

Since 1984, Cure SMA has grown to be the largest network of individuals, families, clinicians, and research scientists working together to advance SMA research, support affected individuals/caregivers, and educate public and professional communities about SMA. The organization 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 today. We are currently on the verge of breakthroughs that will strengthen bodies, extend life, and lead to a cure. To learn more, visit us at 

1. Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. 

2. Wirth, B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). 

3. Arnold, WD, Kassar D, Kissel JT. Spinal muscular atrophy: Diagnosis and management in a new therapeutic era. 

4. Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review.

5. Kolb SJ, Kissel JT. Spinal muscular atrophy. 

6. Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. 

7. Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. 

8. Zerres K, Rudnik-Schoneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. 

9. Wirth B, Herz M, Wetter A, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. 

10. Wirth B, Brichta L, Schrank B, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. 

11. Wang CH, Finkel RS, Bertini ES, et al; Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. 

12. Farrar MA, Kiernan MC. The genetics of spinal muscular atrophy: progress and challenges. 

 2015;12(2):290-302. doi:10.1007/s13311-014-0314-x

13. Wadman R, Stam M, Gijzen M, et al. Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4. 

14. Samaha FJ, Buncher CR, Russman BS, White ML, Iannaccone ST, Barker L, et al. Pulmonary function in spinal muscular atrophy. 

15. Veerapandiyan A, Connolly AM, Finkel RS, et al. Spinal muscular atrophy care in the COVID-19 pandemic era. Muscle & Nerve. 2020;1—4. doi:10.1002/mus.26903

16. SPINRAZA Prescribing Information. Cambridge, MA: Biogen.

17. ZOLGENSMA [prescribing information]. Bannockburn, IL: AveXis, Inc; 2019.

18. FDA approves oral treatment for spinal muscular atrophy. News release. FDA. August 7, 2020. Accessed August 7, 2020. https://www.fda.gov/news-events/press-announcements/fda-approves-oral-treatment-spinal-muscular-atrophy

19. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile onset spinal muscular atrophy. 

20. De Vivo DC, Bertini E, Swoboda KJ, et al, on behalf of the NURTURE Study Group. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. 

21. Mendell J, Al Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. 

22. AveXis presents new data at EPNS continuing to show significant therapeutic benefit of Zolgensma® in prolonging event-free survival now up to 5 years of age in patients with spinal muscular atrophy (SMA) Type 1. News release. Novartis. September 19, 2019. Accessed October 23, 2019. 

https://www.novartis.com/news/media-releases/avexis-presents-new-data-epns-continuing-show-significant-therapeutic-benefit-zolgensma-prolonging-event-free-survival-now-5-years-age-patients-spinal-muscular

23. AveXis announces innovative Zolgensma gene therapy access programs for US payers and families. News release. Novartis. May 24, 2019. Accessed October 23, 2019. 

https://www.novartis.com/news/media-releases/avexis-announces-innovative-zolgensma-gene-therapy-access-programs-us-payers-and-families

24. Cure SMA COVID-19 membership survey launched April 7, 2020; data on file.

25. American Academy of Pediatrics. Guidance on Providing Pediatric Well-Care During COVID-19. May 8, 2020. Accessed June 22, 2020. 

https://services.aap.org/en/pages/2019-novel-coronavirus-covid-19-infections/clinical-guidance/guidance-on-providing-pediatric-well-care-during-covid-19/

26. Santoli JM, Lindley MC, DeSilva MB, et al. Effects of the COVID-19 pandemic on routine pediatric vaccine ordering and administration — United States, 2020. 

. ePub: 8 May 2020. Doi:: 10.15585/mmwr.mm6919e2

Advocacy organization Cure SMA provides guidance for health care providers caring for patients with SMA during the ongoing COVID-19 pandemic. 