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).

New program launched to accelerate access to personalized therapies for children with rare conditions

Today, Wednesday 22 November, the government announced its support for the Rare Therapies Launch Pad, a new programme that will develop a pathway for children with rare conditions to access individualized therapies.

4 Dec 2023

Advancement of potential gene therapy could offer new hope for children with Batten disease

A new study shows that delivery of gene therapy to correct the gene mutations that cause CLN2 disease, or Batten disease, directly into the cerebrospinal fluid (CSF) has potential therapeutic effects.

28 Sep 2023

Study provides insights into the molecular mechanism of Batten disease

Neuronal Ceroid Lipofuscinosis are a group of devastating neurodegenerative lysosomal storage disorders that begin in childhood. Mutations in CLN3 gene lead to a NCL called Batten disease, characterized by the progressive loss of vision, movement, and cognition.

6 Jul 2023

Neural underpinnings of atypical visual sensory behaviors in some children with autism

There is this picture – you may have seen it. It is black and white and has two silhouettes facing one another. Or maybe you see the black vase with a white background. But now, you likely see both.

2 Mar 2023

Oxford-Harrington Rare Disease Centre hosts virtual event in honor of the upcoming Rare Disease Day

The Oxford-Harrington Rare Disease Centre, a partnership of the University of Oxford and Harrington Discovery Institute at University Hospitals, is hosting a virtual event on Monday, Feb. 27, 2023, in honor of the upcoming Rare Disease Day, which is celebrated across the globe on February 28 every year.

21 Feb 2023

Parents become drug developers to save their children’s lives

Maggie Carmichael wasn't developing like other kids. As a toddler, she wasn't walking and had a limited vocabulary for her age.

21 Jul 2022

Health care costs for people with rare diseases have been underestimated, study shows

A new, retrospective study of medical and insurance records indicates health care costs for people with a rare disease have been underestimated and are three to five times greater than the costs for people without a rare disease.

22 Oct 2021

Research shows how mutation linked with CLN3-Batten disease could lead to vision loss

Progressive vision loss, and eventually blindness, are the hallmarks of juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease.

8 Feb 2021

Gene therapy to the inner retina prevents blindness in mouse model of CLN3 Batten disease

Gene therapy to the inner retina prevented blindness in a mouse model of the neuro-degenerative disorder CLN3 Batten disease.

10 Aug 2020

Researchers develop new therapeutic approach to treat CLN3 Batten disease

Researchers led by a team at Rosalind Franklin University of Medicine and Science have devised a new therapeutic approach to treating a rare but deadly neurodegenerative genetic disease in children.

31 Jul 2020

Study unravels CNL6 mystery in Batten disease

Batten disease is a family of 13 rare, genetically distinct conditions. Collectively, they are the most prevalent cause of neurodegenerative disease in children, affecting 1 in 12,500 live births in the U.S. One of the Batten disease genes is CLN6.

29 Jun 2020

Research reveals key role of a protein in rare Batten disease

Professor Stéphane Lefrançois, a researcher at the Institut National de la Recherche Scientifique (INRS), is working on Batten disease, a neurodegenerative genetic disease that primarily affects children. His research focuses on the most common form of the disease - Batten CLN 3 - which is caused by mutations in the protein of the same name and for which there is still no cure.

28 Feb 2020

Custom-made oligonucleotide therapy for girl with fatal Batten disease

Sufferers of fatal Batten disease have been given new hope as scientists develop a custom-made oligonucleotide therapy for a young girl.

14 Oct 2019

Researchers develop customized drug treatment to bypass patient’s unique mutation

An unprecedented case at Boston Children's Hospital shows that it's possible to do something that's never been done before: identify a patient's unique mutation, design a customized drug to bypass it, manufacture and test the drug, and obtain permission from the Food and Drug Administration (FDA) to begin treating the patient -- all in less than one year.

11 Oct 2019

A Preclinical Solution to Studying Neurological Diseases

At SfN 2018, Antti Nurmi explained a case study of how Charles River have used neuroimaging to study Batten's Disease.

From Charles River Laboratories Neuroscience 26 Nov 2018

Study reveals connection between two proteins known to be hyperactive in cancer

A team of researchers at Baylor College of Medicine and Texas Children's Hospital has revealed a connection between mTORC1 and Src, two proteins known to be hyperactive in cancer.

20 Oct 2018

OHSU researchers discover disease in monkeys that mimics childhood neurodegenerative disorder

OHSU scientists have discovered a naturally occurring disease in monkeys that mimics a deadly childhood neurodegenerative disorder in people - a finding that holds promise for developing new gene therapies to treat Batten disease.

27 Jul 2018

New therapeutic approach may delay neurodegeneration in rare genetic disease

A new therapeutic approach may one day delay neurodegeneration typical of a disease called mucopolysaccharidoses IIIB. Neurodegeneration in this condition results from the abnormal accumulation of essential cellular molecules called mucopolysaccharides.

21 Jun 2018

Raising Awareness of Childhood Dementia

The Dementia Strikes Children Too campaign aims to raise awareness of childhood dementia, drive for better clinical education of this group of diseases, and put in place the systems and tools for earlier diagnosis.

18 May 2018

FDA approves first drug for treating rare form of Batten disease

The U.S. Food and Drug Administration today approved Brineura (cerliponase alfa) as a treatment for a specific form of Batten disease. Brineura is the first FDA-approved treatment to slow loss of walking ability in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.

27 Apr 2017