Author Archives: Marta Figueiredo PhD

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…

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…

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…

Two years of treatment with Brineura (cerliponase alfa) safely and effectively delayed the onset of late-infantile Batten disease in a 23-month-old boy who had not exhibited symptoms when he started treatment, a case study shows. The same treatment slowed disease progression in his older sister, who received the therapy…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

A single injection into the brain of an investigational gene therapy now in clinical trials partly prevented retinal degeneration and vision loss in a mouse model of CLN6 Batten disease, a study shows. These findings mark the first report of a brain-delivered gene therapy reaching both the brain and…

Adding cannabis oil to standard anti-seizure medications may be an effective way of managing treatment-resistant status epilepticus — life-threatening seizures that require urgent medical treatment — in people with CLN6 Batten disease, a case report suggests. This…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Vision degeneration in children with CLN2 disease, also known as late infantile Batten disease, occurs similarly in both eyes and seems to accelerate from ages 4 to 7, according to a recent study. This suggests that eye-targeted CLN2 therapies should be administered before, or as early as possible…

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…