Batten Disease News and Research

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Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood. It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs).

Scientists discover treatment that improves symptoms in mouse model of juvenile Batten disease

Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and King's College London have discovered a treatment that improves the neurological symptoms in a mouse model of juvenile Batten disease.

6 Feb 2017

Experts to examine impact of live music on health and morbidity in children with learning disabilities

Experts in the fields of music, education, neurology, psychiatry and psychology will gather at a conference at the Royal Society of Medicine in London on Monday 28 November to examine the current evidence for the value and impact of music interventions, especially live music, on health and morbidity in children with learning disabilities.

15 Nov 2016

Gene therapy may be effective method for treating Niemann-Pick disease, type C1

For the first time, National Institutes of Health researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1).

26 Oct 2016

CHOP researchers delay symptoms, extend lifespan in animal model of Batten disease

Researchers have taken a significant step forward in developing gene therapy against a fatal neurodegenerative disease that strikes children. By delivering a working version of a gene to produce a key enzyme that is lacking in Batten disease, the scientists delayed symptoms and extended lifespan in dogs with a comparable disease.

12 Nov 2015

Sanford Research scientists develop animal model to study neurodegenerative disease

Sanford Research scientists have developed a pig model for a neurodegenerative disease that could help better treat the disorder and other physiological conditions. The findings of the project are published in Human Molecular Genetics.

4 Nov 2015

Charlotte charity Taylor's Tale inspires new law to create treatments for rare diseases, spur growth in NC

Charlotte charity Taylor's Tale helped inspire a law designed to stimulate the creation of new treatments for rare diseases and spur economic development in North Carolina.

13 Aug 2015

NYSCF and Beyond Batten Disease Foundation partner to find cure for juvenile Batten disease

The New York Stem Cell Foundation (NYSCF) and Beyond Batten Disease Foundation (BBDF) have partnered to develop stem cell resources to investigate and explore new treatments and ultimately find a cure for juvenile Batten disease, a fatal illness affecting children.

24 Jul 2014

Expert in gene therapy joins The Children's Hospital of Philadelphia

Beverly L. Davidson, Ph.D., a nationally prominent expert in gene therapy, is joining The Children's Hospital of Philadelphia (CHOP) today.

2 Apr 2014

Study addresses how location and sex can affect mouse models in scientific research

A study addressing how location and sex can affect mouse models in scientific research authored by Sanford Research's David Pearce, PhD, appears in July's issue of Scientific Reports.

31 Jul 2013

Enzyme therapy slows progression of Batten disease in dogs

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.

12 Feb 2013

Combination therapy may improve life span and motor function of infants with Batten disease

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 5.

16 Mar 2012

Study reveals what causes lysosome to overflow in Batten disease

Waste management is a big issue anywhere, but at the cellular level it can be a matter of life and death. A Weizmann Institute study, published in the Journal of Cell Biology, has revealed what causes a molecular waste container in the cell to overflow in Batten disease, a rare but fatal neurodegenerative disorder that begins in childhood.

3 Nov 2011

Rochester receives $1M FDA, BDRSA grant to begin first controlled clinical trial in Juvenile Batten disease

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 Administration and the Batten Disease Support and Research Association.

1 Jun 2011

Genetic mutation linked to Kufs disease

According to a new study, a genetic mutation thought to be responsible for the rare hereditary brain disorder Kufs disease is finally identified. The research was carried out by Dr Melanie Bahlo and her team at the Walter and Eliza Hall Institute's bioinformatics department in Parkville, Australia, in partnership with neurologist and epilepsy specialists Professor Sam Berkovic and Dr Todor Arsov from the University of Melbourne, Australia.

10 May 2011

Scientists use new technologies to identify genetic cause of Kufs disease

Scientists from the Walter and Eliza Hall Institute and the University of Melbourne have used innovative new technologies to identify the gene responsible for a rare but fatal hereditary brain disorder. The discovery will make it possible to diagnose the disease through a blood test rather than a brain biopsy.

6 May 2011

Scientists detect several biomarkers to screen active drugs for Batten disease

Goethe University and Harvard Medical School start screening for active ingredients for the treatment of Batten disease

20 Apr 2011

Raptor reopens enrollment in DR Cysteamine Phase 3 trial to treat patients with nephropathic cystinosis

Raptor Pharmaceutical Corp., today announced it has reopened enrollment in its Phase 3 clinical trial of its proprietary delayed-release oral formulation of cysteamine bitartrate in patients with nephropathic cystinosis.

15 Feb 2011

Raptor completes enrollment in DR Cysteamine Phase 3 clinical trial in cystinosis

Raptor Pharmaceutical Corp., today announced it has completed enrollment in its Phase 3 clinical trial of its proprietary delayed-release oral formulation of cysteamine bitartrate ("DR Cysteamine") in patients with nephropathic cystinosis ("cystinosis").

24 Jan 2011

Comprehensive guide to current practice of intraoperative neurophysiology

A new book entitled "Intraoperative Neurophysiologic Monitoring" has been published by Cambridge University Press, co-authored by Nationwide Children's Hospital Pediatric Neurologists Gloria M. Galloway, MD, and Khaled M. Zamel, MD; Marc R. Nuwer, MD, of UCLA; and Jaime R. Lopez, MD of Stanford University.

20 Nov 2010

OHSU to lead next phase of HuCNS-SC trial for NCL in children

Oregon Health & Science University Doernbecher Children's Hospital will lead the next phase of a landmark clinical trial to further assess the safety and preliminary effectiveness of purified human neural stem cells (HuCNS-SC-) as a potential treatment for infantile or late-infantile neuronal ceroid lipofuscinosis (NCL), a rare and currently fatal neurodegenerative disorder that affects infants and children.

30 Oct 2010