News

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 …

The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

Brineura (cerliponase alfa) — a therapy developed by BioMarin for late infantile Batten disease that is typically infused directly into the brain — is being administered into the eyes of a select group of children with the disorder as an attempt to prevent vision loss. The study,…

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…