News

Using a species of amoeba as a model organism, researchers have found chemical modifications in the CLN5 protein — whose mutated form is associated with late infantile Batten disease — that allow it to be released outside a cell. According to the team from Trent University in Canada, their findings…

Researchers have identified eight potential biomarkers of disease severity, progression and treatment response in children with late infantile Batten disease. Considering the nature of these biomarkers, the team suggested that these patients may have a disease-associated brain energetic deficit that could drive neurodegeneration. The study, “Untargeted…

Chemical compounds similar to flupirtine can effectively prevent cell death in Batten disease patient-derived cell lines, a study reports. These findings provide the first preclinical evidence pointing toward the therapeutic effects of such compounds and could be the first step in establishing potential treatments for Batten disease in both…

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…

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…