Navigation Links
Effective treatment for late infantile batten disease developed by MU, BioMarin researchers
Date:2/11/2013

COLUMBIA, Mo. 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 neural degeneration 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 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, 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."


'/>"/>

Contact: Nathan Hurst
hurstn@missouri.edu
573-882-6217
University of Missouri-Columbia
Source:Eurekalert

Related medicine news :

1. Review: Few effective, evidence-based interventions for children exposed to traumatic events
2. Weight Lifting Exercises
3. How “Deadlift Dynamite” Guides Men How To Build Muscles Effectively – Tony Nguyen
4. Burn Fat Quickly with New and Effective Customized Fat Loss Program
5. Creatine Distributor Muscular Development Store Responds to Article on Effective Workout Supplements
6. Tiny capsule effectively kills cancer cells
7. High-dose Vorinostat effective at treating relapsed lymphomas
8. Announcement: New Website for Effective Environmental Services Just Went Live
9. Family practice offers genetic tests to predict effective psychiatric meds, a CAMH study
10. Constipation Treatments Not Equally Effective: Review
11. Emotional stress reduces effectiveness of prostate cancer therapies in animal model
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/2/2016)... ... December 02, 2016 , ... With the number of ... of an injury, patients must find the one that works for them. When an ... created a machine that worked and decided to share it with others. , He ...
(Date:12/2/2016)... ... ... Mediaplanet is proud to announce the launch of its ... therapeutic technologies, and revolutionized nutrition that are helping patients and physicians manage their ... the last 3 decades,” says Dr. Valentine Fuster, a world-renowned cardiologist. “This is ...
(Date:12/2/2016)... (PRWEB) , ... December 02, 2016 , ... Sourced from ... has some unique properties including its unmatched natural purity of just 6 ppm TDS ... and crisp. , Nothing Water has been available in several ShopRite and FoodTown stores ...
(Date:12/2/2016)... ... December 02, 2016 , ... Clarify Health Solutions, ... raised $6.0 million in an initial round of funding. The round was led ... their caregivers can receive far better care through the application of the best ...
(Date:12/2/2016)... ... December 02, 2016 , ... ‘Tis the season for giving! Today, 20 creative ... National Family Partnership and the Drug Enforcement Administration as part of the National Red ... 10 winning schools who decorated their campuses with this year’s Red Ribbon Week theme: ...
Breaking Medicine News(10 mins):
(Date:12/2/2016)... 2016  PipelineRx, a leading medication management technology ... demonstrations of its SaaS-based telepharmacy platform, PowerGridRx™ ... 2016 Midyear Clinical Meeting and Exhibition, December 5-7 ... nearly 300 hospital clients nationally, the Company is ... to dramatically improve pharmacy operations, enhance patient safety, ...
(Date:12/2/2016)... , Dec. 2, 2016  Eli Lilly and ... financial guidance for 2017 and provide updated financial guidance ... also conduct a conference call on that day with ... company,s financial guidance. The conference call will ... general public can access a live webcast of the ...
(Date:12/2/2016)... MARLBOROUGH, Mass. , Dec. 2, 2016 ... announced a definitive agreement to acquire certain manufacturing assets ... NVCN ) (TSX: NVC) advanced biological tissue business, as ... a total of $75 million in cash. The Neovasc ... heart valves, including the Boston Scientific Lotus™ Valve System. ...
Breaking Medicine Technology: