Effective treatment for late infantile batten disease developed

February 11, 2013, University of Missouri-Columbia

Batten disease is a rare, fatal genetic disorder that affects children. Currently, no effective treatment exists for the disease, which ultimately kills all who are affected. Dachshunds also suffer from Batten disease, and now researchers from the University of Missouri College of Veterinary Medicine and School of Medicine, in collaboration with BioMarin Pharmaceutical Inc., have developed a treatment for the disease that has significantly delayed the onset and progression of symptoms in the Dachshunds. The effectiveness of the treatment in the dogs has been so encouraging that plans are underway to initiate human trials of the therapy in children.

Batten disease affects the nervous system in both humans and dogs, causing progressive leading to loss of vision, cognitive and motor function, ability to communicate and, ultimately, death. A number of different forms of Batten disease exist. The treatment developed by MU and BioMarin researchers targets a type of the disease that first becomes evident in the late infantile stage of development. Symptoms for this type of Batten disease begin to appear in patients around the age of two.

Batten disease is caused by the absence of an important enzyme within cells of the . This enzyme helps cells break down and eliminate waste proteins. Without this enzyme, cells accumulate waste and are unable to function properly. Martin Katz, professor of ophthalmology with dual appointments in the MU College of Veterinary Medicine and School of Medicine, along with MU researchers Joan Coates, Fred Wininger, Dennis O'Brien, Gayle Johnson, Jacqueline Pearce and several postdoctoral fellows and students worked with Dachshunds affected with Batten disease in a similar way as humans. For their treatment, a therapeutic protein created by BioMarin Pharmaceuticals Inc., replaces the deficient enzyme and is directly administered into the spinal fluid once every two weeks. Untreated dogs ultimately succumbed to the disease around 10 to 11 months of age. Dogs treated with the enzyme replacement therapy showed significant delays in the onset of symptoms and survived ! substantially longer.

"This is an important step toward treating human patients with this debilitating disease," Katz said. "By introducing a replacement for the missing enzyme into the nervous system, we have been able to help the deficient cells eliminate their waste efficiently and slow the disease-related brain degeneration. We believe this treatment approach will be effective in humans as well. Based on research to date, this treatment does not appear to result in a complete cure for the disease, but it could extend the lives and improve the quality of life for those with this form of Batten disease."

"The researchers at MU have painstakingly characterized Late-Infantile Batten disease in these dogs, and their results indicate a striking similarity in the progression of the disease among dogs and humans," said Charles O'Neill, vice president of pharmacological sciences at BioMarin. "Treatment of the dogs with BioMarin's enzyme replacement therapy has characterized its safety and efficacy, and will enable accelerated clinical development of this potential treatment for this devastating disease."

Explore further: Combination treatment in mice shows promise for fatal neurological disorder in kids

Related Stories

Combination treatment in mice shows promise for fatal neurological disorder in kids

March 15, 2012
Infants with Batten disease, a rare but fatal neurological disorder, appear healthy at birth. But within a few short years, the illness takes a heavy toll, leaving children blind, speechless and paralyzed. Most die by age ...

First controlled clinical trial for Juvenile Batten disease to start

May 31, 2011
After years of building hope for a treatment, Rochester researchers and clinicians will begin the first controlled clinical trial for Juvenile Batten disease this summer, thanks to $1 million in grants from the Food and Drug ...

Recommended for you

Creation of synthetic horsepox virus could lead to more effective smallpox vaccine

January 19, 2018
UAlberta researchers created a new synthetic virus that could lead to the development of a more effective vaccine against smallpox. The discovery demonstrates how techniques based on the use of synthetic DNA can be used to ...

Study ends debate over role of steroids in treating septic shock

January 19, 2018
The results from the largest ever study of septic shock could improve treatment for critically ill patients and save health systems worldwide hundreds of millions of dollars each year.

New approach could help curtail hospitalizations due to influenza infection

January 18, 2018
More than 700,000 Americans were hospitalized due to illnesses associated with the seasonal flu during the 2014-15 flu season, according to federal estimates. A radical new approach to vaccine development at UCLA may help ...

Zika virus damages placenta, which may explain malformed babies

January 18, 2018
Though the Zika virus is widely known for a recent outbreak that caused children to be born with microencephaly, or having a small head, and other malformations, scientists have struggled to explain how the virus affects ...

Certain flu virus mutations may compensate for fitness costs of other mutations

January 18, 2018
Seasonal flu viruses continually undergo mutations that help them evade the human immune system, but some of these mutations can reduce a virus's potency. According to new research published in PLOS Pathogens, certain mutations ...

Study reveals how MRSA infection compromises lymphatic function

January 17, 2018
Infections of the skin or other soft tissues with the hard-to-treat MRSA (methicillin-resistant Staphylococcus aureus) bacteria appear to permanently compromise the lymphatic system, which is crucial to immune system function. ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.