News

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…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

New mutations have been found in PPT1 and TPP1, the two genes associated with neuronal ceroid lipofuscinoses type 1 and type 2 (NCL1 and NCL2), respectively, in a population of patients in India, researchers reported. Their study, “Batten disease: biochemical and molecular characterization revealing novel…

A type of Batten disease, called CLN8 disease, is associated with the failure of important cell- signaling molecules to properly interact and engage in critical signaling pathways, according to results of a recent study. The study, “Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels,”…

Genetic mutations in the CLN8 gene block the transport of lysosomal enzymes to lysosomes, the cellular compartments that digest and recycle different types of molecules, directly contributing to the development of Batten disease, a study has found. The study, “CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Regenxbio’s one-time gene therapy RGX-181 for the treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease, one of the most common forms of Batten disease. Regenxbio expects to submit an Investigational New Drug (IND) application to the FDA…

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…

Naturally occurring canine models of several types of neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, may aid in the development of new effective therapies for these conditions, according to a review study. The study, “Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of…

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…

A genetic deletion in the CLN3 gene impairs the normal function of genes involved in the production of a type of fat critical for nerve cell growth and survival in the brain, a mouse study has found. The study, “Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in…