Author Archives: Marta Figueiredo PhD

International Experts Develop Guidelines for CLN1 Management

An international team of experts has developed a set of consensus-based, family-informed recommendations for the diagnosis and best care management of neuronal ceroid lipofuscinosis type 1 (CLN1) disease. The guidelines were outlined in a report, “Management of CLN1 Disease: International Clinical Consensus,” published in the journal…

Cancer Therapy Tamoxifen May Hold Promise for 2 Batten Types

A screening of U.S.-approved therapies revealed that tamoxifen, an oral cancer therapy, is able to effectively reduce the accumulation of a fatty molecule called globotriaosylceramide, or Gb3, in cellular models of two forms of Batten disease. It worked without compromising cell survival, a study showed. That study found that…

Gene Therapy Shows Promise in Mice With CLN8 Disease

A gene therapy designed to deliver a working version of the CLN8 gene — the one mutated in people with CLN8, a form of late-infantile Batten disease — prolonged the survival, reduced disease-associated brain features, and partially corrected motor problems in a mouse model. The findings, likely representing one of…

Anesthesia Generally Safe in Children and Adolescents with Batten Disease, Study Shows

Anesthesia seems generally safe in children and adolescents with Batten disease, according to a study evaluating complications immediately before, during, and after procedures that require anesthesia. These complications, however, were associated with the number of anti-seizure medications taken by the patient, suggesting a more severe disease. The research also highlighted…