Steve Bryson, PhD, science writer —

Two young sisters who carry a unique combination of mutations in their CLN8 genes developed a mild, but atypical type of Batten disease, a case study reported. Both sisters had different mutations in each of their CLN8 genes — one from their mother and the other from their father,…

The CLN7 protein that is faulty in a form of late-infantile Batten disease is a chloride channel that regulates the function of lysosomes, the recycling compartment of the cell, a new study discovered. Developing treatments to restore CLN7 function or modulate other lysosomal chloride channels may be a promising…

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…

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…

Taysha Gene Therapies has secured an exclusive option from the University of Texas Southwestern (UTSW) to license worldwide rights to a clinical-stage gene therapy program for CLN7 disease, a form of late-infantile Batten disease. A first-generation CLN7 therapy is currently being evaluated in a Phase 1 clinical trial…

The U.S. Food and Drug Administration (FDA) has cleared Neurogene’s request to conduct a Phase 1/2 clinical trial to evaluate the safety, tolerability, and efficacy of NGN-101, an investigational gene therapy to treat CLN5, a form of late-infantile Batten disease. The therapy uses a harmless adeno-associated virus (AAV)…

Animal models predicted dosing of the enzyme replacement therapy Brineura (cerliponase alfa) for patients with late infantile Batten disease, also called CLN2 disease, a study showed. Scientists said this approach also may be applied to predict cross-species dosing for other similar medicines. “Overall, the approach described here provides…

An international team of experts has provided the latest evidence-based recommendations for diagnosis, assessment, management, and treatment of neuronal ceroid lipofuscinosis type 2 (CLN2), a study reported.  The study, “Guidelines on the diagnosis, clinical assessments, treatment and management for…

Brineura (cerliponase alfa) stabilized the progression of neuronal ceroid lipofuscinosis type 2 (CLN2) — a type of Batten disease — in a small group of people in Columbia, including those with an atypical onset that occurs later in childhood.

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. …