Author Archives: Alice Melao

Three years of treatment with Brineura (cerliponase alfa) was seen to effectively and durably delay the progression of late infantile Batten disease, compared to its natural course, in an ongoing and long-term extension study, BioMarin announced.  These new results — focused on motor and language skills — demonstrate that Brineura, the first…

High levels of a protein associated with Parkinson’s disease, called alpha-synuclein, may contribute to the progression of late infantile Batten disease, according to a recent study. The study, “Autophagy–lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease,” was published in…

Mutated forms of CLN3 protein may be involved in the abnormal activation of signals in brain cells that, in excess, could promote cell death, a study has found, which suggests that inhibiting these signaling cascades could represent a new therapeutic strategy to prevent the progression of the juvenile form of…

Amicus Therapeutics is recruiting children for its new Phase 1/2 clinical trial that will assess the safety and efficacy of an investigational gene therapy for Batten disease caused by CLN3 gene mutations. The first child has completed a one-month observation period following dosing, with no reports of serious…

Abeona Therapeutics has acquired the global rights to REGENXBIO’s proprietary NAV AAV9 delivery system to develop gene therapies for Sanfilippo syndrome type A (MPS IIIA) and type B (MPS IIIB). It also will be used for infantile (CLN1) and juvenile (CLN3) Batten disease. Both Sanfilippo…

Amicus Therapeutics has gained global development and commercial rights to 10 gene therapy programs for lysosomal storage disorders, including three potential first-to-market therapies for Batten disease. This pipeline expansion resulted from the acquisition of Celenex, a clinical stage gene therapy company. “The in-licensing and acquisition of these gene therapy programs…

A new system of vagus nerve stimulation (VNS) therapy was implanted in the first patient with drug-resistant epilepsy as part of a global registry launched by LivaNova to evaluate the treatment in a real-world setting. VNS therapy is recommended only for patients whose seizures — a common occurrence in Batten disease patients…

ABO-202, Abeona Therapeutics‘ investigational candidate for the treatment of infantile Batten disease has received orphan drug status by the European Medicines Agency. This new status adds to the previously granted orphan drug and rare pediatric disease designation by the U.S. Food and Drug Administration. These designations are…

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…

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…