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CLN7, the protein lacking in CLN7 Batten disease, is involved not only in the functioning of lysosomes (the cellular compartment responsible for breaking down waste) but also in the communication between nerve and muscle cells, according to a preclinical study. These findings open the possibility that proteins associated with other…
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
Treatment with galactosylceramide (GalCer) — a type of fat molecule — improved motor function, reduced neuronal loss and increased lifespan in a mouse model of juvenile Batten disease, highlighting the potential of this approach as a possible therapeutic strategy. The study, “Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease”…
Scientists have identified a series of proteins that may be useful biomarkers of disease progression for different types of Batten disease. The study, “Analysis of brain and cerebrospinal fluid from mouse models of the three major forms of neuronal ceroid lipofuscinosis reveals changes in the lysosomal proteome,”…
Treatment with a type of complex fat molecule called galactosylceramide increased lifespan, improved behavioral outcomes and eased neuronal loss in a mouse model of juvenile Batten disease, a study reports. The results, “Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease,” were published in the Annals of Neurology.
Amicus Therapeutics‘ investigational gene therapy for CLN6 Batten disease may halt disease progression in children, according to interim results from a Phase 1/2 clinical trial. Early data showed that a single injection of the AAV-CLN6 gene therapy stabilized the decline in children’s motor and language abilities while remaining well…
A one-time treatment with an investigational gene therapy prolongs the lifespan in a mouse model of CLN6 disease, and ameliorates motor, learning, and memory impairments, a study shows. The therapy’s safety and efficacy is currently being evaluated in a Phase 1/2 trial (NCT02725580) in…
Neurologists and researchers have tailor-made an antisense oligonucleotide therapy (ASO) for a 6-year-old girl who has CLN7 Batten disease, and it cut to half her number of daily seizures and reduced by more than 80% how long each seizure lasted. The therapy was developed at Boston Children’s Hospital…
The Ultimate Fighting Championship (UFC) lifted the spirits of a boy named Sebastian recently while helping to make everyone more aware of Batten disease, the foe Sebastian and his family are fighting. Earlier this year, Sebastian’s father, Chris Velona, asked UFC to help raise awareness of Batten, a genetic disorder…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…
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