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Researchers described the natural history of retinal degeneration in a mouse model of CLN7, a form of late-infantile Batten disease, that mimics human patient retinal disease progression. The study revealed a progressive loss or dysfunction of various types of nerve cells within the retina that relay signals from the…
A newborn with microcephaly (unusually small head) and difficult-to-treat seizures was diagnosed with CLN10 disease, or congenital Batten disease, after a genetic analysis confirmed a mutation in the CTSD gene, a case study reports. Researchers stressed the importance of offering genetic testing and counseling to families at increased risk of…
Theranexus and Inserm Transfert have entered an agreement to work toward the development of treatment candidates for neurological disorders such as Batten disease, the two companies announced. “This flagship agreement is perfectly in line with our strategy to develop medicinal products blocking the progression of rare neurological diseases…
Levels of fatty molecules called glycerophosphodiesters, or GPDs, are elevated in the blood and other bodily fluids of people with juvenile Batten disease — and may be a useful biomarker for diagnosing or treating the inherited disorder — a new study revealed. This finding “raises the potential to use…
Although electroencephalogram (EEG) and MRI findings may detect early signs of ceroid lipofuscinosis type 2 disease (CLN2), they cannot diagnose the condition independently, according to a panel of disease specialists. For an early diagnosis, the panel recommends that genetic testing be initiated soon after early clinical and EEG/MRI abnormalities…
The CLN3 protein, defects of which cause juvenile Batten disease, is needed for the breakdown and clearance of the fat molecules used to make cell membranes, a new study reveals. The study, “CLN3 is required for the clearance of glycerophosphodiesters from lysosomes,” was published in Nature.
A cardiac MRI helped identify heart involvement in a 16-year-old boy with juvenile Batten disease, also known as CLN3 disease, a study showed. Researchers were able to detect abnormalities in his heart’s myocardium, or muscle layer, indicative of cardiac involvement. “The clinical use of cardiac MRI should be considered…
Theranexus and the Beyond Batten Disease Foundation (BBDF) have completed enrollment for a Phase 1/2 clinical trial testing Batten-1 — the partners’ revamped experimental therapy, solely containing miglustat — in adolescents and adults with juvenile Batten disease. This is “an important milestone in the development of Batten-1, a…
An experimental enzyme replacement therapy (ERT) — one injected directly into the brain — was found to lessen motor dysfunction and nerve cell death in mouse and sheep models of infantile Batten disease, a new study reports. Collaborations Pharmaceuticals, known as CPI, recently received nearly $3 million…
Two young sisters who carry a unique combination of mutations in their CLN8 genes developed a mild, but atypical type of Batten disease, a case study reported. Both sisters had different mutations in each of their CLN8 genes — one from their mother and the other from their father,…
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