Hope in the Prevention of Pre-Term Birth

New study paves the way for the prevention of premature deliveries.

Preterm birth, impacting one in ten babies in the US, is an important medical problem. This condition, characterized by babies being born alive before 37 weeks of gestation, stands as the primary cause of infant death and affects approximately 15 million pregnancies globally each year. A groundbreaking study from the University of California, San Francisco has emerged, offering potential solutions. By analyzing DNA and tissue samples, the researchers successfully identified key genes involved in premature labor and discovered promising drug candidates for treatment. 

This research aims to personalize treatment for preterm birth by analyzing genetic mutations and their impact on risk of preterm birth in pregnant women. The study revealed two main culprits that predispose women to preterm deliveries: relaxed womb muscles and inflamed tissues. These findings could pave the way for a more personalized approach to preventing premature deliveries based on individual genetic makeup. 

 Considering the recent withdrawal of the only approved medication for prevention of preterm birth, Makena, finding new options for the prevention of preterm birth is imperative. Makena was a drug approved to reduce the risk of preterm birth in pregnant women with a history of spontaneous preterm birth. The drug was approved under the accelerated approval pathway in 2011, however, later on, it was discovered that the drug did not show clinical benefit. This led to withdrawal of the medication's approval by the FDA. However, new research has revealed that patients with lower levels of mutations in specific genes linked to muscle contraction are more likely to benefit from Makena. This could open the door to a personalized medicine approach where genetic screening could guide the use of this medication in some patients. 

"[Makena] was our only weapon against recurrent preterm birth for a decade," says Dr. Cheng Wang, the study's lead author. "Its withdrawal left a huge gap. Now, we can potentially identify those who could truly benefit from the treatment."

 Not only has this new study identified specific genes which could predict the efficacy of existing drugs, it also identified 10 potential new therapies. These promising medications, previously used for other diseases, will undergo investigation for their effectiveness in preventing preterm labor. One such candidate is RKI-1447, a small molecule currently used for cancer, glaucoma, and fatty liver disease. Further research may unlock its potential in preventing preterm birth, offering hope for improved outcomes for mothers and their babies. 

The breakthroughs of this study signify a paradigm shift in prevention of preterm birth. Moving from a one-size-fits-all to a personalized approach holds promise for better outcomes for both mothers and babies. With this knowledge, doctors could tailor care to specific patients with tests that predict who will respond to certain medications and who won't. 

Take-home: 

Scientists have made a significant breakthrough in understanding preterm birth, the leading cause of infant death and disability. By analyzing DNA and tissue samples, they identified key genes involved in premature labor and discovered promising drug candidates for prevention of this condition. This personalized approach to medicine could save lives and improve the health of millions of babies.

Written by Iana Malasevskaia, MD

Edited by Ali Aljassabi & Mallory Kane

References:

1. Quinn, J. A., Munoz, F. M., Gonik, B., Frau, L., Cutland, C., Mallett-Moore, T., Kissou, A., Wittke, F., Das, M., Nunes, T., Pye, S., Watson, W., Ramos, A. A., Cordero, J. F., Huang, W. T., Kochhar, S., Buttery, J., & Brighton Collaboration Preterm Birth Working Group (2016). Preterm birth: Case definition & guidelines for data collection, analysis, and presentation of immunisation safety data. Vaccine, 34(49), 6047–6056. https://doi.org/10.1016/j.vaccine.2016.03.045
2. Wang, C., Wang, Y. J., Ying, L., Wong, R. J., Quaintance, C. C., Hong, X., Neff, N., Wang, X., Biggio, J. R., Mesiano, S., Quake, S. R., Alvira, C. M., Cornfield, D. N., Stevenson, D. K., Shaw, G. M., & Li, J. (2024). Integrative analysis of noncoding mutations identifies the druggable genome in preterm birth. Science advances, 10(3), eadk1057. https://doi.org/10.1126/sciadv.adk1057
3. FDA Commissioner and Chief Scientist Announce Decision to Withdraw Approval of Makena.U.S. Food and Drug Administration.Published April 06, 2023.Accessed January 31, 2024. https://www.fda.gov/news-events/press-announcements/fda-commissioner-and-chief-scientist-announce-decision-withdraw-approval-makena
4. University of California - San Francisco. "Genetic discovery reveals who can benefit from preterm birth therapy." ScienceDaily. ScienceDaily, 23 January 2024. www.sciencedaily.com/releases/2024/01/240123122248.htm