Author Archives: Ana Pena, PhD

The stability of lysosomal proteins when tested in a laboratory setting is not equivalent to that observed in live cells, a study has found. This information should be considered when designing new protein versions to improve the effectiveness of enzyme replacement therapy for Batten disease. Results of…

New research has deepened the understanding of the underlying causes of Batten disease, including organs and cell types affected as well as crucial molecular mechanisms, which can help the design of novel therapies, a review study reports. Researchers believe these new insights will be key to inform the targeting,…

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…

Extracellular vesicles derived from a type of immune cell called macrophage may hold potential as a less-invasive delivery system of TPP1 — the enzyme missing in patients with CLN2 or late infantile Batten disease — to the brain of affected individuals.

Neurogene is sponsoring a natural history study to better understand the course of CLN5 and CLN7 disease, two forms of late-infantile Batten disease, and to find meaningful ways of measuring patient outcomes for use in gene therapy trials. The study is running as part of a…

Amicus Therapeutics entered a collaboration with Paragon Gene Therapy, a unit of Catalent Biologics, for the production and development of potential gene therapies to tackle lysosomal storage disorders (LSDs), including Batten disease. They will concentrate on advancing gene therapy programs that are at a preclinical…

A new dried blood spot test may be a reliable and rapid method for obtaining an initial diagnosis of late infantile Batten disease, recent research shows. The study, “Validity of a rapid and simple fluorometric tripeptidyl peptidase…

Healx has raised $10 million to accelerate therapy discovery for rare diseases, including Batten disease.  The company uses artificial intelligence, pharmacology expertise, and patient engagement in an effort to give those with rare diseases a better quality of life. Balderton Capital, Europe’s major…

A group of experts has created a set of guidelines to best manage late infantile Batten disease, also known as CLN2.  Although effective strategies exist, clinicians currently lack common management guidelines to best respond to the disease’s symptoms. Multidisciplinary approaches and consensual practice guidelines are…

Investigational therapies now in development — especially gene and cell therapies — are reason for fresh hope among Batten disease patients and their families, according to a recent review. Substantial advances are being made, particularly regarding potential gene/cell therapies, in targeting…