News

The number of fluid-containing cellular compartments called vacuoles within immune cells could help to predict the severity of Batten disease, a new study suggests. The study, “Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity,” was published in JIMD Reports. Vacuoles are compartments…

The U.S. Food and Drug Administration (FDA) has designated Neurogene’s gene therapy, which aims to deliver a working copy of the human CLN5 gene, an orphan drug to possibly treat CLN5, a form of late-infantile Batten disease. Orphan drug status helps to encourage therapies for rare and serious diseases,…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Small vesicles naturally produced by certain types of immune cells may be used as carriers to deliver TPP1 — the enzyme missing in patients with late infantile Batten disease — to the brain, a mouse study has found. If implemented in future therapies, this strategy could allow for more…

Signs of mild atrophy, or shrinkage, in certain areas of the brain, including the cerebellum — a region involved in balance and movement control — should prompt diagnostic tests for late infantile Batten disease, an Australian study suggests. These features may help physicians to identify the inherited…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Two previously-unknown mutations in the CLN5 gene were reported to cause CLN5 disease, a form of late infantile Batten disease, in a new study. The study also represents the second-ever publication describing CLN5 disease in people in Pakistan, hinting at a more worldwide distribution of the condition than…

Common, non-invasive imaging techniques and a walking test used to assess patients with Batten disease in the clinic helped scientists identify a new set of biomarkers in a mouse model that can track disease progression over time, a study reports.  These findings…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…