With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…
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Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
Sanger sequencing — a conventional genetic test useful to identify mutations in disease-associated genes — can effectively help to provide a definitive diagnosis of Batten disease, according to a Canadian study. The research also highlighted that the presence of cognitive decline, loss of previously acquired skills, progressive visual problems, and…
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CLN7 Protein is Involved in Communication Between Nerve and Muscle Cells, Batten Disease Model Shows
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…
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