News

Beyond Batten Disease Foundation (BBDF) has struck a deal with Actelion Pharmaceuticals to help further the development of BBDF-101, an investigational treatment for juvenile Batten disease. Under the terms of the new agreement, Actelion (a Janssen Pharmaceutical Company of Johnson & Johnson) will provide a component of…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

Atypical neuronal ceroid lipofuscinosis type 2 (CLN2) — a type of Batten disease that occurs later in childhood — presented with seizures, language difficulties, and behavioral problems as the first symptoms in a group of patients in South America, a study reported. …

Sanford Research scientist Kevin Francis, PhD, has received an $83,718 research grant to study CLN6 Batten disease — also known as variant late infantile CLN6 disease — and advance Anavex’s compounds to early trials. The funding was awarded by the Charlotte and Gwenyth Gray Foundation, a family…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

CLN3, the protein missing in people with juvenile Batten disease, is needed for a cellular process normally taking place in the retina that works to maintain the specialized cells needed for sight, a study reports. According to its researchers, these findings aid in understanding the cellular and molecular mechanisms…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

AT-GTX-502, Amicus Therapeutics’ investigational gene therapy for juvenile Batten disease, has been well-tolerated and is showing a potential to stabilize early signs of the disease in children and infants. These are the initial findings of a first Phase 1/2 trial (NCT03770572) investigating the safety and efficacy of…

A single injection into the brain of an investigational gene therapy now in clinical trials partly prevented retinal degeneration and vision loss in a mouse model of CLN6 Batten disease, a study shows. These findings mark the first report of a brain-delivered gene therapy reaching both the brain and…