Marisa Wexler, MS, senior science writer —

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…

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…

The levels of abnormal storage material inside certain immune cells could be used as a biomarker of disease activity and response to treatment with late infantile Batten disease, or CLN2 disease, a new study shows. Data showed that over three years of treatment with Brineura (cerliponase alfa) —…

Theranexus and Inserm Transfert have entered an agreement to work toward the development of treatment candidates for neurological disorders such as Batten disease, the two companies announced. “This flagship agreement is perfectly in line with our strategy to develop medicinal products blocking the progression of rare neurological diseases…

Levels of fatty molecules called glycerophosphodiesters, or GPDs, are elevated in the blood and other bodily fluids of people with juvenile Batten disease — and may be a useful biomarker for diagnosing or treating the inherited disorder — a new study revealed. This finding “raises the potential to use…