News

Drinking acidified water prevented motor impairment and decreased the toxic accumulation of molecular debris in brain cells in a mouse model of CLN1 disease, also called infantile Batten disease, a recent study reports. “In this study, we demonstrated that acidified drinking water had beneficial effects in … a mouse…

Children with late infantile Batten disease on approved enzyme replacement therapy show signs of age-related degeneration in the light-sensing part of the eyes, a new study shows. The study, “Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2…

Six months of treatment with cannabidiol (CBD) reduced brain inflammation in a mouse model of infantile Batten disease, but did not affect the frequency of seizures or the survival of nerve cells, a new study reports. Given the severe symptoms that typically characterize this subtype of Batten disease,…

People with juvenile Batten disease may be at increased risk of developing an abnormally high body temperature when taking certain medications commonly prescribed to manage mental health issues, according to a new report from Sweden. “Our study points to a vulnerability to drug-induced hyperthermia in patients with [juvenile Batten…

Batten disease-causing mutations may lead to dysfunction of synapses, the structures that nerve cells use to connect with each other. That’s according to data reported in “Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment,” a new study…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

A targeted epilepsy genetic testing program enabled more children to receive a diagnosis of ceroid lipofuscinosis type 2 disease (CLN2) — and in less than half the time it typically takes, a study reported. In fact, children in the testing program with CLN2 disease were diagnosed, on average, less…

Two dozen new mutations in the CLN6 gene were identified in nearly 100 people, mostly from the Middle East and North Africa, with CLN6 Batten disease, a study shows. These findings “confirm the genetic and ethnic [variability] of CLN6 disease,” and are expected to “raise awareness for CLN6 disease and…

The number of activated microglia — the brain’s resident immune cells — are significantly increased by the time seizures start to occur in a mouse model of infantile Batten disease, also known as CLN1 disease, a study shows. Suppressing P2X7R, a receptor protein mainly found at the surface of…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…