Marisa Wexler, MS, senior science writer —

Note: This story was updated March 5, 2024, to clarify that Taysha Gene Therapies set aside the development of TSHA-118, along with other experimental gene therapies, to focus on another treatment for a different disorder. A patient with CLN1 disease, also known as infantile Batten disease, has received treatment…

An experimental gene therapy for late infantile Batten disease showed a good safety profile and appeared to be working as designed in a study done in non-human primates. “The advancement of this potential gene therapy could provide new hope to families with affected children,” Terence R. Flotte, MD, editor-in-chief…

Managing fear episodes in people with juvenile Batten disease requires minimizing situations that provoke patients, and increasing their threshold of pain and discomfort, a study reports. Sedative medications and therapies that activate specific areas of the nervous system may also help manage such responses, but solid evidence for them…

A child with late infantile Batten disease treated with the gene therapy RGX-181 experienced a more than 80% reduction in seizure frequency over the following six months, without any serious side effects. That’s according to data from a single-patient study that were announced by RGX-181’s developer, Regenxbio, in…

Horizon Therapeutics has awarded grants to help support 50 organizations around the world that are focused on improving the lives of people with rare disorders such as Batten disease. The grants were awarded through the company’s #RAREis Global Advocate Grant initiative, which launched last year with the aim…

Children with juvenile Batten disease frequently show abnormalities in eye tests, such as a bull’s-eye appearance in the macula — the center of the retina, at the back of the eye — and reduced electrical activity in light-sensing eye cells, according to a new study. The findings highlight the…

A mini pig model could be an effective way to examine brain changes to track disease progression in late infantile Batten disease, a study suggests. In addition, measuring changes in the size of specific brain regions may help identify response to potential treatments, researchers note. “Miniswine present a…

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…

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 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…