Cambridge startup Acer Therapeutics is developing the first therapy for a rare inherited condition called Maple Syrup Urine Disease. Known for causing neurological and social impairment, MSUD gets its unique name from the urine’s distinctive smell of maple syrup – all thanks to a defect in an individual’s amino acid metabolism.

The company just raised $2.1 million, according to an SEC filing. The startup’s business model is to repurpose and reformulate existing therapeutics, such as sodium phenylacetate and sodium phenlybutyrate, that work in related conditions.

The technology is licensed out of Baylor University. The school’s actually leading the startup’s double-blinded Phase 3 clinical trial, which is currently enrolling patients.

MSUD patients carry a genetic defect that prevents branched chain amino acids from being broken down. These, and their corresponding ketoacids, build up abnormally in the system – lending the maple syrup smell to the urine. This also triggers neurological impairment, coma, even death.

The disease falls solidly in the orphan bucket – there are about 900 patients with MSUD in the U.S., and 4,000 around the world. It has a worldwide incidence of one in 185,000 births, though interestingly, it’s reported in one in 350 births among the Old Order Mennonite population.

Right now, there isn’t an effective treatment for MSUD, outside of dietary restriction. Acer’s lead aim is to test out phenylbutyrate, because the drug’s previously been found to reduce branched chain amino acids when consumed. Acer’s found success preclinically for this drug, as well as for sodium phenylacetate/benzoate.

Oh, and interesting: The startup got its name from the genus of the maple tree. Acer.

Original article from By Meghana Keshavan. Meghana has spent the last year-and-a-half writing about biotech and healthcare for the San Diego Business Journal. Previously, she's worked for Reuters, Crain’s Detroit Business, the Detroit Free Press and WDET, a Detroit-based National Public Radio affiliate. Meghana studied biochemistry and molecular biology at Penn State University and spent five years as a self-described "research peon in a schizophrenia genetics lab."

Melvin Carruth

This letter is a tribute to my brother Melvin Carruth! We believe he is one of the oldest living African Americans with Maple Syrup Urine Disease.

Read More

NBS-MSUD Connect: Your One-Stop Shop For MSUD Resources

NBS-MSUD Connect was launched as part of the Newborn Screening Connect patient registry (NBS Connect) in 2013 through a partnership between the Department of Human Genetics at Emory University, the Maple Syrup Urine Disease (MSUD) Family Support Group and other key stakeholders.

Read More

Cambrooke Therapeutics

Cambrooke Therapeutics continues to expand its line of delicious and nutritious low protein foods to help improve the lives of individuals with Inborn Errors of Metabolism such as MSUD.

Read More

Updates To Nutrition Management Guidelines

The Nutrition Management Guideline for MSUD was first published in 2014. Since that time, there have been reports of new research and experiences that have prompted updates of the guideline.

Read More

Emory Metabolic Camp 2018 Announcement

Join us June 18-23, 2018 for the 24th Annual Metabolic Camp at Emory University in Atlanta, GA!

Read More

From The Chairman’s Desk

As I sit here reflecting on how much the care and treatment of MSUD has changed over the years, my mind goes back to 1978 when our son Keith was born.

Read More

MSUD Advocacy Report

Medical Nutrition Equity Act

The Medical Nutrition Equity Act (MNEA) would require all private insurance plans (state regulated or self-insured/self-funded) and federal health programs, including Children’s Health Insurance Program, Tricare, Medicaid, Medicare, and Federal Employee Health Benefit Plans, to provide coverage for formula and low-protein foods for all children and adults with MSUD.

Read More

The MSUD Family Support Group Is Excited To Announce Their Participation In The Million Dollar Bike Ride

The MSUD Family Support Group is excited to announce their participation in The Million Dollar Bike Ride

Read More

19th Biennial MSUD Symposium

I can’t believe that almost two years have passed and it is time for another MSUD Symposium! I am especially excited about this conference because I’ve built in extra time for social interaction.

Read More

Change the lives

of MSUD adults and children

Subscribe to our mailing list

Signup To Our Newsletter Signup with your email address to receive news and updates