News

Gene therapy was able to reduce the signs and symptoms of late infantile Batten disease in a mouse model carrying a common disease-causing mutation, a study shows. These findings support Regenxbio’s ongoing gene therapy program, which includes RGX-181, currently being tested as part of a single-patient study…

Changes in the levels of certain metabolites in the brain among people with juvenile Batten disease, also called CLN3 disease, are significantly associated with multiple measures of disease severity, a study showed. Age accounted for many of these metabolite changes. Still, the levels of some brain metabolites — the…

In rare cases, people with juvenile Batten disease may go years or even decades without developing seizures after the onset of vision problems, a new study highlights. Findings suggest that diagnostic delays are common for this rare form of the disease, so researchers urge clinicians to consider it as…

The U.S. Food and Drug Administration (FDA) has cleared the design of a pivotal Phase 3 trial to test Theranexus’ investigational therapy Batten-1 in children and adolescents with juvenile Batten disease. This was the result of a mid-April meeting between the FDA’s Division of Rare Diseases and Medical…

Mutations in genes associated with Batten disease can result in a wide range of clinical manifestations, from whole-body symptoms typical of Batten forms to isolated eye disease, according to a study describing the cases of 11 patients. Clinical variability was seen even among patients carrying the same mutations in…

The Batten Disease Support and Research Association (BDSRA) is challenging people to walk, run, or bike a virtual 5K anytime from now through June 9 as part of International Batten Disease Awareness Day, an annual effort to raise awareness about the disease. People can register to participate…

A lack of the CLN3 protein — the underlying cause of juvenile Batten disease — impairs the function of stress granules (SGs), which are formed to promote cell survival under stressful conditions, according to a cell-based study. CLN3-deficient cells also had lower metabolic rates and were impaired in their…

The Batten Disease Support and Research Association (BDSRA) is holding a contest to find the design for the T-shirt for this year’s International Batten Disease Awareness Day, an annual effort on June 9 to raise awareness about Batten disease. Submissions are being accepted on the official contest…

A treatment using stem cells modified to produce PPT1 — the missing enzyme in infantile Batten disease — prevented symptoms from developing and substantially extended survival in a mouse model of the disease, a study reports. It also prolonged survival and slowed disease progression when given to mice that…

A new mutation in the MFSD8 gene was identified as the cause of CLN7 disease, a form of late-infantile Batten disease, in a young Italian girl with developmental regression and a smaller-than-normal head, a case report shows. “Our case is discussed to highlight the pivotal role of clinical genetics, and of a…