Patricia Inácio, PhD,  science writer—

A natural history study in people with CLN7 disease is now fully enrolled, but patients with CLN5 disease — each a form of late-infantile Batten disease, and both are in this study — are still needed, Neurogene, which is sponsoring the research, announced. The study (NCT03822650), underway at…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

The Scottish Medicines Consortium (SMC) has recommended that Brineura (cerliponase alfa) — the first and only approved treatment for late infantile Batten disease, also known as CLN2 disease — be made available through the National Health Service (NHS) Scotland, the Batten Disease…

A case report has described a rare case of a newborn diagnosed with CLN2 disease, or late infantile Batten disease, after a genetic analysis confirmed a disease-causing mutation in the TPP1 gene. The case-study, “A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation,” was published in the…

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 number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Treatment with galactosylceramide (GalCer) — a type of fat molecule —  improved motor function, reduced neuronal loss and increased lifespan in a mouse model of juvenile Batten disease, highlighting the potential of this approach as a possible therapeutic strategy. The study, “Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease”…

Amicus Therapeutics‘ investigational gene therapy for CLN6 Batten disease may halt disease progression in children, according to interim results from a Phase 1/2 clinical trial. Early data showed that a single injection of the AAV-CLN6 gene therapy stabilized the decline in children’s motor and language abilities while remaining well…