Digital biomarkers are a feasible way to remotely monitor motor function in people with rare neurological diseases, but more work is needed to validate the approach, according to a recent review study. Use of such outcome measures could help make it easier to conduct robust clinical trials for rare diseases,…
News
A first patient has been dosed in a Phase 1/2 clinical trial testing the gene therapy RGX-381 — one of two in Regenxbio‘s pipeline for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease — as a treatment for the most common form of Batten disease, the…
CLN5-targeted gene therapy safely preserved clinical function, prolonged survival, and prevented brain tissue atrophy in a sheep model of CLN5 disease, a form of late-infantile Batten disease, in a recent study. The benefits were observed in sheep at both pre- and post- symptomatic stages, and the evidence suggests higher…
Researchers have developed a new minipig model of juvenile Batten disease that recapitulates some key features of the human condition, including vision loss and gait abnormalities. Despite certain limitations, scientists believe these miniswine are more translatable to the human disease compared with mouse models of juvenile Batten, also known…
Horizon Therapeutics has awarded grants to help support 50 organizations around the world that are focused on improving the lives of people with rare disorders such as Batten disease. The grants were awarded through the company’s #RAREis Global Advocate Grant initiative, which launched last year with the aim…
Children with juvenile Batten disease frequently show abnormalities in eye tests, such as a bull’s-eye appearance in the macula — the center of the retina, at the back of the eye — and reduced electrical activity in light-sensing eye cells, according to a new study. The findings highlight the…
Theranexus has launched a global offering of around €4 million (about $4.5 million) to help fund the pivotal Phase 3 trial of the company’s investigational therapy Batten-1 for juvenile Batten disease. The Beyond Batten Disease Foundation (BBDF) acquired €1.15 million (about $1.3 million) in shares before the…
Researchers have identified new cellular roles for the CLN3 protein, the loss of which is the cause of juvenile Batten disease, or CLN3 disease. The loss of CLN3 in cell cultures leads to improper trafficking of enzymes needed for the function of lysosomes, the cellular compartments responsible for degrading…
Researchers have discovered a new naturally occurring nonhuman primate model of late-infantile Batten disease, or CLN2 disease. The primates, all of whom had a mutation in the CLN2 gene — the known cause of late-infantile Batten — also exhibited signs of the human condition including motor dysfunction, brain tissue atrophy, neuroinflammation,…
Researchers have developed a mouse model of juvenile Batten disease that better reflects the survival outcomes of human patients, according to a new study. While mice without the gene that carries instructions for the CLN3 protein recapitulate many juvenile Batten features, these mice have milder disease and a much…
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