BioMarin Pharmaceutical Inc. doesn’t back down from a tough rare disease.

The Novato company (NASDAQ: BMRN), which made its name with enzyme-replacement therapies that tackle virtually unpronounceable orphan diseases like phenylketonuria and versions of mucopolysaccharidosis, expects to enroll the first patient by mid-year in an early-stage clinical trial in Batten disease.

CEO Jean-Jacques Bienaimé said BioMarin will file an investigational new drug application with the Food and Drug Administration— the first step toward a human clinical trial— yet this quarter.

As you might guess, no one is more thrilled than parents and advocates for the 400 to 600 children worldwide diagnosed with Batten disease, a collection of nine or 10 neurodegenerative genetic diseases that make it impossible for neurons to properly recycle in the brain. Batten robs children of their vision, speech and muscle control and typically kills them by the age of 12, though those with the juvenile form of the disease live into their mid-20s.

“We’re very excited about what BioMarin is doing,” said Margie Frazier, executive director of the Columbus, Ohio-based Batten Disease Support & Research Association. “Families are very hopeful. Anytime a family has hope, it’s a wonderful thing.”

The association is working with BioMarin to fill the trial, which is expected to treat its first Batten patients in the United Kingdom.

There are only two other human clinical trials in Batten Disease. One is a Weill Cornell Medical College gene replacement study that is in a Phase I/II trial. In the second study, researchers at the University of Rochester in New York repurposed a now-generic, oral immune system-suppressing drug and are testing it in a Phase II study with 30 Juvenile Batten disease patients over the next three years.

“They are all likely to provide information that will support additional research,” said Dr. Jonathan Mink, chief of the division of child neurology at the University of Rochester Medical Center.

StemCells Inc. (NASDAQ: STEM) of Newark completed a Phase I safety trial, which involved drilling holes into the skulls of patients and infusing them with purified human neural stem cells to reset the cell-recycling process. It ended a Phase Ib study before it enrolled a single patient, saying it couldn’t find enough qualified patients early enough to show the StemCells product could make a difference.

Clearly, BioMarin is hoping for different results.

BioMarin’s enzyme-replacement therapy, called BMN-190, won’t reverse the damage already done by Batten disease, but in dogs it showed that it dramatically slowed progression of the disease.

“Based on what we’ve seen with dogs, it’s encouraging,” Bienaimé said.

Read more at San Francisco Business Times. Written by Ron Leuty.