Assessing MDA’s 2018 SMA Research Landscape

Amanda Haidet-Phillips

This is an unprecedented time for patients living with spinal muscular atrophy (SMA). It has now been almost two years since Spinraza became the first FDA-approved treatment for SMA, and in that time it’s proven to be a transformative therapy. Although there is much more work to be done, Spinraza has made a significant impact on the lives of many SMA patients. Babies receiving Spinraza are hitting developmental milestones that otherwise would have been impossible to reach. Older patients receiving the drug are seeing improvements in functional abilities such as walking and/or gaining the use of their arms and upper body.

On its own, Spinraza is exciting. But in the last year there have been other promising advances in SMA research and care, too. Combined with Spinraza and other drugs currently in clinical trials, these advances have the potential to dramatically change the course of disease and quality of life for those living with SMA.

SMA added to the Recommended Uniform Screening Panel (RUSP)

In July, the SMA community was pleased to learn that Secretary of Health and Human Services Alex Azar formally recommended that SMA be added to the RUSP. Although not a binding decision for states, many states follow the guidance of the RUSP to determine for what diseases newborns in that state will be tested.

This was a watershed moment. It acknowledged the advances that have taken place in the diagnosis of SMA in newborns and in the transformative nature of therapies entering the clinic. A disease can be added to the RUSP only if there is an available treatment that can impact the life of the newborn upon diagnosis. Spinraza qualifies, and with other potentially transformative drugs in the clinical pipeline, such as gene therapy approaches, it is even more important to diagnose newborns with SMA before they are symptomatic.

The secretary’s decision also brings hope that in the near future, other neuromuscular diseases, such as Duchenne muscular dystrophy, will be added to the panel as new treatments enter the marketplace.

Launch of the MOVR Data Hub

Over the last twelve months, MDA has also made a significant investment in the NeuroMuscular ObserVational Research (MOVR) Data Hub, a registry that will collect and aggregate genetic, clinical and patient-reported data for several neuromuscular diseases, including SMA, at MDA Care Centers throughout the country. The registry is being launched in 25 MDA Care Centers to start, with the intent of expanding the registry to an additional 25 sites in the spring.

The launch of MOVR will have a major impact on SMA. By capturing crucial data points in such a comprehensive fashion, best practices in care will be refined. We will also be able to monitor the impact of treatments over time to better understand how different therapies are working and develop improved ways to measure the effectiveness of drugs across the spectrum of patients, from infants to adults. And with such a comprehensive data set in place, companies working on SMA therapies will be able to more efficiently and effectively recruit patients into trials, speeding up the timeline for advancing treatments through the clinic.

MOVR is especially important given the addition of SMA to the RUSP. By diagnosing and treating newborns before they are symptomatic, we can gain new insight into how the disease manifests and, with the right therapeutic interventions, is stopped in its tracks. Before, newborns with SMA were monitored in the clinic only after they started experiencing symptoms. The faster we can diagnose newborns, the sooner we can track their progress and drive improvements in care and treatment.

Funding research into the next generation of therapies

MDA has always played a major role in funding groundbreaking research in SMA, investing more than $47 million since 1950. MDA-backed research laid the foundation for what would one day become Spinraza. Today, we continue to support research into SMA, with active grants totaling more than $2 million.

MDA is currently funding research in a variety of strategically focused areas, including developing improved or second-generation versions of drugs like Spinarza. Another promising approach is gene therapy, which aims to replace the SMN protein lacking in SMA patients.

But we also see hope in treatments that could be combined with SMN-directed therapies; for example, drugs that act directly on the muscles to improve strength and function could synergize with Spirnaza or gene therapy. MDA is funding research focused on developing these types of combinatorial approaches to SMA.

MDA is also investing in studies that seek to understand SMA holistically, not just based on the motor neurons that play a primary role in the manifestation of the disease. This is important because, while drugs like Spinraza aim to correct the primary deficits in the nervous system, there are ancillary side effects that need to be understood, such as potential defects in muscle and in the liver. As patients live longer and reach new functional achievements, therapies may be needed to address these uncovered peripheral disease effects.

Lastly, MDA has always been committed to funding work to better understand how and why defects in motor neurons lead to disease. With a better understanding of disease mechanisms and how SMN gene loss causes SMA, we hope to shed light on new drug targets and ways to intervene for SMA and other motor neuron diseases.

Brighter days ahead

The last 12 months have been exciting in SMA research, and we’re confident the next 12 months will be even more promising. With continued investment in SMA research initiatives, we can start fundamentally changing and improving outcomes for patients living with SMA as they grow older and, in time, stronger.