Researchers from the University of Missouri (MU) College of Veterinary Medicine and School of Medicine, in collaboration with
BioMarin Pharmaceutical, have developed a treatment for Batten disease—a rare, fatal genetic disorder that affects children.
Dachshunds suffer from Batten disease, a genetic disorder that affects the nervous system. Researchers at the University of
Missouri have developed a treatment that delays the onset of clinical signs.
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Dachshunds also suffer from Batten disease, and currently no effective treatment exists for the disease, which ultimately
kills all who are affected. However, the MU researchers have discovered an enzymatic therapy that significantly delays the
onset and progression of clinical signs in Dachshunds. The effectiveness of the treatment in dogs has been so encouraging
that plans are under way to initiate human trials of the therapy in children.
Batten disease affects the nervous system in both people and dogs, causing progressive neural degeneration leading to loss
of vision, cognitive and motor function, ability to communicate and, ultimately, death, according to an MU release. 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 human patients around the age of 2.
Batten disease is caused by the absence of an important enzyme within cells of the neural system. This enzyme helps cells
break down and eliminate waste proteins. Without this enzyme, cells accumulate waste and are unable to function properly.
Martin Katz, PhD, professor of ophthalmology with dual appointments in the MU College of Veterinary Medicine and School of
Medicine, along with a number of other MU researchers, worked with Dachshunds affected with Batten disease in a similar way
as humans. For their treatment, a therapeutic protein created by BioMarin 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 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 says. "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," says 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."
Based in large part on the dog studies, BioMarin plans to initiate human trials of the treatment this year.
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