Launching drug discovery for a rare disease takes guts. Not only do researchers make bold bets on new science, they often need to join forces with collaborators and push themselves beyond their comfort zones.
Novartis scientists have collaborated widely in a discovery project for spinal muscular atrophy (SMA), a devastating rare disease and the most common genetic cause of infant and toddler fatalities. The internal and external collaborations have proved invaluable to the SMA project team at Novartis Institutes for BioMedical Research (NIBR).
NIBR has more than 40 rare-disease projects underway. Still, each rare disease presents unique challenges—and SMA is no different. An inherited genetic defect (see “Novartis researches SMA’s genetic roots” for details) often presents complications in patients early in life, leading to loss of specialized motor neurons necessary for muscle movement. Like the vast majority of the 6,000-plus known rare diseases, SMA has no approved therapies.
Novartis researchers collaborate with the SMA Foundation, founded by the parents of a child with SMA. This relationship jumpstarted the company’s discovery efforts, providing access to the foundation’s network of medical and scientific experts as well as early research support. And Families of SMA, which provides research and patient resources, has also given Novartis a valuable link to the SMA community. NIBR’s SMA project team has also tapped specialized contract research organizations for multiple preclinical experiments.
“Without collaborating with the SMA community it would’ve been inefficient and logistically difficult for Novartis to embark on drug discovery for this disease,” says Natalie Dales, a senior investigator at NIBR and chemistry lead for the project. “It would’ve taken so much longer to try to go it on our own.”