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Gene therapy safely and effectively eased the signs and symptoms of CLN7 disease, a form of late-infantile Batten disease, in cells and a mouse model, a study demonstrated. These findings supported the launch of a Phase 1 trial (NCT04737460), being conducted at Dallas Children’s Hospital, in Texas, involving…

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Note: This story was updated Feb. 4, 2022, to correct the following information:  Laura Edwards worked in healthcare marketing. She gave birth to a child on the eighth floor of the hospital where her sister Taylor was being transferred to hospice care. Also, it was the nonprofit organization Taylor’s…

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…

Amicus Therapeutics announced it will discontinue its investigational gene therapy program of AT-GTX-501 for late infantile neuronal ceroid lipofuscinosis 6 disease, also known as CLN6 Batten disease. The company is, however, advancing its gene therapy program for juvenile Batten disease, also known as CLN3 disease, according to a press release.

Mutations in the CLN6 gene — which have been associated with different forms of Batten disease — may lead to the development of an atypical form of juvenile Batten that does not cause vision loss, according to a study reporting the cases of three patients from two Greek-Cypriot…

With approval from Health Canada, Taysha Gene Therapies will begin a Phase 1/2 clinical trial testing TSHA-118, its investigational gene therapy for CLN1 disease, also known as infantile Batten disease. This first trial will launch at Queen’s University, in Ontario, under the coordination of Jagdeep Walia, MD, with…

Rarebase, a public benefit biotechnology company, has launched the Function therapeutic discovery platform specifically for rare neurological diseases, including Batten disease. Led by scientists, engineers, patients, and advocates, Function combines large-scale therapeutic screening with genetic screens, all conducted in nerve cells (neurons) grown in a dish. The combination…

An international team of experts has developed a set of consensus-based, family-informed recommendations for the diagnosis and best care management of neuronal ceroid lipofuscinosis type 1 (CLN1) disease. The guidelines were outlined in a report, “Management of CLN1 Disease: International Clinical Consensus,” published in the journal…

The Beyond Batten Disease Foundation (BBDF) is sponsoring Care Beyond Diagnosis in its efforts to draft international guidelines to help clinicians counsel and treat patients with CLN3 disease, or juvenile Batten disease. Based on clinical evidence and consensus-based recommendations, the guidelines are designed to improve patient care…