Q: What are the challenges in spinal muscular atrophy (SMA) research that Cure SMA can help address?
We face two primary challenges: (1) the greater risk and lower reward associated with drug development for a rare disease, and (2) a diverse and dispersed patient population. There are currently approximately 10,000 people living with SMA in the U.S. All cases of SMA are caused by the same genetic mutation, but there are four distinct types of SMA with different prognoses.
Our first approach to meet these challenges is aggressive yet strategic financial investment in a comprehensive research portfolio. We invest in four different stages of research, and in four different possible therapeutic targets. Like any investor with a diverse portfolio, we balance risk through this strategy. We also place emphasis on “seed funding” for early-stage research projects, to prove their worth as possible avenues to drug discovery. By doing this, we attract investment from pharmaceutical companies, leveraging our initial investment.
The second strategy is based on our close connections to the patient community, which allows us to provide drug developers with access to patient data, assistance with clinical trial recruitment, advocates for regulatory decisions, and more. Our family support programs—such as our information packets, care packages, equipment pool, and Annual SMA Conference—first and foremost provide families with assistance and hope. However, they also provide incredible incentives to join together and build a strong and unified community. We are then able to offer our community as an extraordinary resource for drug developers.
Q: How does the Cure SMA drug pipeline help you evaluate the success of your research program?
We first began tracking the SMA drug pipeline in 2000, when there were just two early-stage programs. We now have 18 active programs spread among multiple approaches, with 7 in clinical trials.
Our pipeline is an important educational tool for our community. This snapshot of the breadth, depth, and number of clinical stage programs in the SMA pipeline helps our families and patients monitor our progress, and indicates opportunities for participation.
However, this is not the whole value of our drug pipeline, as it also provides a mechanism to monitor our internal effectiveness and productivity. Through this tool, we track many other metrics including:
- The number of failed programs, as failures often teach us something about SMA drug development.
- The number of companies who are investing in SMA drug development, to ensure we are attracting the broadest possible coalition.
- Our investments in research linked to follow-on funding from industry, to see where those investments have had the most impact and leverage.
- The early-stage academic programs we provided seed funding for, to see which of these ultimately yield viable candidates that make it into the SMA drug pipeline.
Having all this information in one place—and keeping it updated regularly—gives us the data we need to make the best possible decisions for where we will direct both our research dollars and our influence in the future.
Q: Your recent annual conference attracted nearly 300 researchers. How do you attract talent to focus on a rare disease?
It has not happened overnight! This was our 26th conference overall, and the 19th with a joint program specifically for researchers. This longevity and persistence has been crucial to our success in this area.
It also takes financial investment. Many of these researchers have been able to commit to SMA in part because their work is funded through Cure SMA grants. We also devote a significant percentage of our budget each year to supporting attendance at the conference.
While the importance of financially backing the research portion of the conference is obvious, the side-by-side coordination with our family conference is equally important. This is another illustration of our two-fold strategy of financial investment linked with community development. This joint conference provides an opportunity for collecting data and gathering feedback from patients and families.
Researchers consistently tell us that they come back to the conference each year not just for the scientific presentations but because of the direct interactions with families. They love meeting the kids and families who will ultimately benefit from their work. This keeps them motivated the rest of the year. These personal connections strongly reinforce that their work is not just about personal scientific achievement or commercial ends, but more critically about people’s lives.
Q: What do you consider the foundation’s greatest accomplishments?
We’re proud of the vibrant, positive, and collaborative community that we have built, both for families and for researchers. Families affected by SMA, all of whom have full plates already, generously give their time and share their experiences with the researchers and regulators who are developing treatments. Our researchers honor this by keeping those with SMA foremost in their goals and priorities, and conducting their research in a collaborative and transparent way. Because of the strength of our community, we’re able to ensure that ethos remains consistent, even in times of rapid growth.
We are able to reach and support over 70 percent of all newly diagnosed families. We provide over 3,000 support pieces each year, and have 12,000 affected members with 34 chapters across the U.S.
We’re proud of the amount of money we’ve been able to raise and invest in research—$57 million, with another $2 million planned for the coming year. That investment also reflects the strength of our community, in the number of families who have given via donations or fundraising on our behalf.
We have been able to build incredible volume and breadth into the SMA drug pipeline, which now provides all of us in the community tremendous hope for the future. We have seen rapid progress for many of these programs into clinical trials, and we now have 15 pharmaceutical companies who have decided to join our community.
Q: What are your top research goals over the next year, and what will it take to reach those goals?
One long-term goal is to bring the cumulative SMA drug pipeline to over 30 programs, which includes active programs plus failures. Our current objective is to add programs that synergize with the current approaches in development, allowing us to treat all stages and types of SMA. To get there will take more of the same persistence, strategic thinking, and smart investing that have brought us to this point.
With seven programs now in clinical trials, we also have the goal of helping these programs proceed toward Food and Drug Administration (FDA) approval. This requires us to continue working with our researchers on trial endpoints, and with our patient community on defining what risks are acceptable and what benefits are meaningful to them.
As FDA approvals draw closer, we have the goal of building stronger relationships with our government and regulatory partners in addition to our pharmaceutical industry collaborators. When the time comes for the FDA to consider an SMA drug for approval, we want to be sure our community’s voice is heard. This will require us to undertake new initiatives to broaden our reach even further.
Our community has remained strong as we’ve grown from a small group of families in 1984 to thousands of families, researchers, and industry partners today. One key goal we have now is to be focused on sustaining this unified community as we broaden to include new stakeholders.