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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Fycompa (perampanel) may be considered as an add-on therapy to control myoclonus (quick, involuntary muscle jerks) in patients with late infantile Batten disease, according to a case report study. The study, “Perampanel attenuates myoclonus in a patient with neuronal ceroid lipofuscinoses type 2 disease,” was…

A new dried blood spot test may be a reliable and rapid method for obtaining an initial diagnosis of late infantile Batten disease, recent research shows. The study, “Validity of a rapid and simple fluorometric tripeptidyl peptidase…

Nationwide Children’s Hospital, the site of a first-of-its-kind clinical trial in Batten disease, has dedicated its lobby in honor of the Charlotte and Gwenyth Gray Foundation to Cure Batten Disease. Touted as one of the world’s largest and most comprehensive pediatric academic medical centers, the hospital is in…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

The U.S. Food and Drug Administration (FDA) accepted Abeona Therapeutics’ investigational new drug application for its one-time gene therapy candidate ABO-202 for children with infantile Batten disease, also known as CLN1 disease. The FDA’s positive decision clears the company to start a global Phase 1/2 trial,…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

The CLN3 gene may play a more crucial role than previously thought in the normal balance of cellular recycling processes and the degradation of important fatty molecules in nervous brain cells, a study suggests. The study titled, “Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies…

Loss of the Tpp1 gene is associated with brain inflammation and nerve cell dysfunction, possibly due to oxidative stress — the cellular damage that occurs as a consequence of high levels of oxidant molecules — a mouse study says. The study, “Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses…