News

Therapeutic approaches that target production of a protein called progranulin in specific brain cells may help preserve brain function in Batten disease, according to a mouse study. The study, “Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice…

A new mutation was identified in a baby girl with congenital neuronal ceroid lipofuscinosis (CLN10), a rare disease that belongs to the heterogeneous group of neuronal ceroid lipofuscinoses (NCL), also known as Batten disease. The study, “Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

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…