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The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

A deficiency of the progranulin protein leads to abnormalities in lysosomal function and may explain some of the molecular processes involved in Batten disease and other neurodegenerative disorders, researchers say. Their study, “Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency,” was published in…

Substantial progress has been made in the development of gene therapies for Batten disease, according to a recent review, and researchers predict that targeted combination therapies will improve patients’ quality of life. The study supporting that contention, “Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal…

Research into the CLN3 protein, whose nonfunctional form underlies juvenile Batten disease, may be compromised by the use of unreliable antibodies that lack specificity, researchers suggest. The study, “Lack of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein…

Treatment with Brineura (cerliponase alfa) reduces decline in motor and language function in children with ceroid lipofuscinosis type 2 (CLN2), a subtype of Batten disease, new results from an extension Phase 1/2 trial show. The findings are in, “Study of Intraventricular Cerliponase Alfa for CLN2 Disease,” published…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

ABO-202, Abeona Therapeutics‘ investigational candidate for the treatment of infantile Batten disease has received orphan drug status by the European Medicines Agency. This new status adds to the previously granted orphan drug and rare pediatric disease designation by the U.S. Food and Drug Administration. These designations are…

Several compounds were able to correct defects in the brain caused by juvenile neuronal ceroid lipofuscinosis (CLN3) in both cellular and mouse models, uncovering potential therapeutic candidates for treating the disease. Because some of these compounds are already approved…

Disruption of cilia, hair-like structures extending from the surface of cells, may play a role in Batten disease pathology, a mouse study suggests. The study, “Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease,” was published in the…

Neural stem cells derived from people with Batten disease can be used as a “disease model” to evaluate new treatment options for patients, according to researchers. Infantile neuronal ceroid lipofucinosis (INCL or CLN1) and late infantile NCL (LINCL or CLN2), all types of neuronal ceroid lipofuscinoses (NCLs, or Batten…