Marisa Wexler, MS,  senior science writer—

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…

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 …

In children with late infantile Batten disease, degeneration in a specific part of the eye’s retina called the parafovea occurs before other parts of the retina are affected, a study reported. The study, “Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive…

Enrollment in a clinical trial testing NGN-101 — an experimental gene therapy for CLN5, a type of late-infantile Batten disease — is expected to start early next year at the University of Rochester Medical Center (URMC). “This trial will move research forward in developing a potentially disease-modifying treatment for…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

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…

New guidelines from the U.S. Food and Drug Administration (FDA) may make it easier to develop therapies to treat extremely rare diseases, such as Batten disease. “The release of this guidance from the FDA is a first step and a very welcome one. It speaks to the promise…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

A patient with both Batten disease and Moyamoya disease — a condition where blood vessels in the skull become obstructed or narrowed, restricting blood flow to the brain — has been described in the first published case of these two conditions occurring in one person. The case report,…