News

Early detection of abnormalities to the eye’s retina and loss of visual acuity may help diagnose neuronal ceroid lipofuscinosis (NCL), aka Batten disease, and improve patient care, Brazilian researchers suggest. For several neurodegenerative disorders that have symptom onset during early infancy is not uncommon for the children to develop eye…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

A new bioinformatic tool called Aminode, developed to help researchers predict the potential outcome of genetic mutations, found that most disease-causing mutations occur in regions of proteins essential to their normal structure and function — including in Batten disease. In fact, nearly three-quarters of the mutations known to cause Batten…

In rare cases, a type of Batten disease may appear at birth, write researchers in a case report, describing a newborn with severe brain damage. The research team at the University Hospitals of Geneva said the disease — also called congenital neuronal ceroid lipofuscinosis type 10 (CLN10) — was…

Polaryx Therapeutics’ investigative drug PLX-100 has been granted orphan drug designation (ODD) by the U.S. Food and Drug Administration (FDA) for the treatment of neuronal ceroid lipofuscinosis (NCL), also known as Batten disease. This follows the previous announcement of ODD status granted to PLX-200, another drug being tested…

Researchers found, in a new mouse model for Batten disease, that defective synapses in specific brain regions may be the cause of disease symptoms. The study “Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis,” was published in the journal eLIFE. Batten…

Abnormal processing of the trace element manganese may impact the onset or progression of Batten disease, according to a researcher at the University of Melbourne in Australia. In a review titled “Manganese in manganism, Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis, and Batten disease: A narrative review,”…

People with Batten disease would likely benefit from early educational interventions that allow them to make up for their lost eyesight and speech with alternative communication skills — even before they are actually needed — according to a report from the Juvenile Neuronal Ceroid Lipofuscinosis and Education Project (2014 – 2017).

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

Batten disease may be caused by the loss of synaptic connections between neurons in the brain, according to a study that detailed abnormalities in the brains of mice, lacking the Cln3 gene. These mice also lacked a certain type of neuron crucial for building neural networks. Researchers at Jena University…