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The expression of two genes associated with neuronal ceroid lipofuscinosis, better known as Batten disease, was restricted to certain cells of the central nervous system in a fruit fly research model. Namely, these genes are mainly expressed in cells that form the blood brain barrier — a membrane that protects the…
Roche’s CellCept was safe, but lacked clinical benefits, during short-term use by patients with CLN3 disease, according to the results of a Phase 2 clinical trial. The study, “Short-Term Administration of Mycophenolate Is Well-Tolerated…
Researchers have developed a new newborn screening test that uses dried blood spots to more accurately diagnose late infantile Batten disease, along with six other lysosomal storage disorders. Findings were published in the study, “Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses…
Researchers have identified five new mutations in the CLN8 gene — the genetic factor behind CLN8 disease, one of a group of conditions known as NCLs, collectively called Batten disease. The study, “CLN8 disease caused by large genomic deletions,” was published in the journal Molecular…
A new mouse model of late infantile Batten disease may help to efficiently investigate personalized therapies, a study suggests. The research, “A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies,” was published in the journal Plos One. Animal models are used often to…
The inaugural International Batten Disease Awareness Day was launched on June 9 under the theme “Come Together.” It became a milestone to increase the global reach of social media and unite members of the Batten disease community, while building awareness about the disease and the need for clinical research. The initiative…
Neuron-like cells derived from a Batten patient’s skin cells may be a suitable way of investigating the mechanisms behind the disease — and of being able to test ways of possibly treating it, researchers report. Their study “Induced Pluripotent Stem Cells Derived…
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…
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