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In children with late infantile neuronal ceroid lipofuscinosis 5 (CLN5), cognitive difficulties are early clinical markers of this condition, and severe mutations are associated with a more rapid decline of neurological function, a study has found. The study, “Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5,”…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

Long-term follow-up of two siblings with Batten disease unveiled symptoms of slowly progressive motor deterioration, persistent photosensitivity, and seizures without dementia, according to a case report. The case report, “Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A,” was published in the journal Epileptic Disorders.

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…