Using tech licensed from Yale University and with a string of biopharma executives and Big Pharma venture backers, Inozyme Pharma has emerged from stealth with $49 million and a mission.

The mission is to help babies with very rare disorders caused by mineral imbalances that can lead to overcalcification of soft tissues and undermineralization of bone, and can all too often cause death.

With the cash boost from by Longitude Capital, New Enterprise Associates, Novo Ventures and Sanofi Ventures, the startup is working on an enzyme replacement therapy for two disorders: generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2). ERT works as a lifelong treatment by replacing an enzyme in patients in whom that particular enzyme is lacking or missing altogether.

The Cambridge, Massachusetts-based company is preclinical, but it hopes the new series A cash will help take it into human testing. 

GACI is an ultrarare genetic disorder affecting the circulatory system that becomes apparent before birth, or within the first few months of life, according to the NIH.

It’s associated with high death rates given that it can cause a buildup of mineral calcium in the walls of the blood vessels that carry blood from the heart to the rest of the body. GACI patients may also have calcification in other organs and tissues, particularly around the joints, as well as hearing loss or softening and weakening of the bones.

Current treatments for the condition include medications for osteoporosis, with Nature reporting successful treatment with a series of osteoporosis treatments in a young child with the disorder.

The second target is the related ARHR2, with patients being affected by the disorder via low levels of serum PPi that can result in rickets, repeated fractures of the long bones, rachitic skeletal deformities and impaired growth and development.

Using tech developed in the lab of associate professor of pathology Demetrios Braddock, M.D., Ph.D., and licensed from Yale University, the biotech hopes to develop a specific treatment for these disorders. Braddock’s work centers on ENPP enzymes, a family of extracellular enzymes regulating hemostasis, bone mineralization, and vascular development.

It’s also got some big hitters from across the industry to help: CEO Axel Bolte, investment adviser at VC firm HBM Partners; rare disease biotech Alexion vet Henric Bjarke, who becomes its SVP and chief operating officer; former technical operations head at Ultragenyx Pharmaceutical Steven Jungles, who translates that role into Inozyme; and Eric Yuen, M.D., senior VP and chief medical officer, who’s served stints at Merck, Johnson & Johnson, Ultragenyx and BioClin.

"Our mission is to develop potentially disease-modifying therapies to help children who are affected with rare, but severe and debilitating disorders of metabolism," said Bolte. "These patients have very poor treatment options. We have attracted a premier syndicate of healthcare investors who are committed to helping us achieve our goal, and this funding positions us well to advance our therapeutic approach."

Enzyme replacement therapy has already been used to good effect by a number of biopharmas, most notably Sanofi Genzyme and its series of meds, including Fabrazyme and Cerezyme, for the rare disorders Fabry disease and Type 1 Gaucher disease, respectively. It was first seen as a potential treatment back in the 1960s, but took about 30 years to find a way to create it as a viable pharmaceutical. A growing number of companies have started to bring new ERTs to market, such as Shire and its Gaucher med Vpriv back in 2010.