News

Genetic testing enabled a diagnosis of ceroid lipofuscinosis type 2 disease (CLN2) in six young children with symptoms that included seizures, motor disturbances, and language delays, while 37 other children with similar symptoms were given different diagnoses, according to a recent study. The findings support the use of genetic…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

Mutations in the gene CLN5, which cause a form of late infantile Batten disease, disrupt the function and movement of cellular compartments called lysosomes, the so-called “recycling centers” of cells. That’s according to the study “Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement,” which…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

The benefits of using telehealth services for people with rare conditions, such as Batten disease, include convenience, cost savings, improved access, and the ability to see multiple providers, according to a recent review study. But limitations persist and will need to be considered in order to implement services. These…

Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…

During the COVID-19 pandemic in England, treatment with Brineura (cerliponase alfa) was considered “essential” for children with neuronal ceroid lipofuscinosis type 2 (CLN2) — also called late infantile Batten disease. That resulted in no patients missing any doses of the therapy, which is designed to slow the progressive…

Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…

A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…

Children with CLN5, a type of late infantile Batten disease, are now being recruited for a first-in-human clinical trial testing NGN-101, Neurogene‘s experimental gene therapy for the rare neurological condition. The trial will be conducted at the University of Rochester Medical Center (URMC), in upstate New York, the company …