CLN3, the protein lacking in the juvenile form of Batten disease (CLN3 disease), is involved in maintaining water balance, which is key for cell survival and growth, according to a recent study. Findings from the study also highlight a link between CLN3 and CLN2 — a protein that, when mutated, causes…
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Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…
Caspase-1 — an enzyme involved in several cellular processes, including inflammatory responses — is a potential therapeutic target to revert some of the features of CLN3 disease, the juvenile form of Batten disease, according to a mouse study. The study, “Caspase 1 activity influences juvenile Batten disease (CLN3)…
Amicus Therapeutics has gained global development and commercial rights to 10 gene therapy programs for lysosomal storage disorders, including three potential first-to-market therapies for Batten disease. This pipeline expansion resulted from the acquisition of Celenex, a clinical stage gene therapy company. “The in-licensing and acquisition of these gene therapy programs…
Exome sequencing, a technique that looks for gene mutations, is a valuable tool to diagnose pediatric neuronal ceroid lipofuscinoses, also known as Batten disease, according to a new case report. The study, “A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report,” was…
An animal study using a mouse model of CLN3 disease, the juvenile form of Batten disease, failed to identify any new biomarkers that could be used to track disease progression, which researchers say may be a result of variations in animal husbandry. The study, “Searching for novel biomarkers…
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
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Researchers Use CT Scans to Monitor Long-term Brain Alterations in Sheep Models of Batten Disease
New Zealand researchers used computed tomography (CT) to measure and monitor brain alterations in sheep models of Batten disease, a study reports. Data revealed that brain atrophy starts in specific regions of the brain, called occipital lobes, spreads to the whole cortex, and eventually leads to a severe reduction…
A new system of vagus nerve stimulation (VNS) therapy was implanted in the first patient with drug-resistant epilepsy as part of a global registry launched by LivaNova to evaluate the treatment in a real-world setting. VNS therapy is recommended only for patients whose seizures — a common occurrence in Batten disease patients…
Regenxbio is developing a novel, one-time gene therapy, called RGX-181, for the treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease. The company expects to submit an investigational new drug (IND) application to the U.S. Food…
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