MRI of neuronal ceroid lipofuscinosis
. Part I: cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis
The abnormalities within the central nervous tissues were consistent with a diagnosis of neuronal ceroid lipofuscinosis
Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis
. Ultrastruct Pathol 2001; 25: 285-8.
Detection of eight novel palmitoyl protein thicesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis
Late-infantile neuronal ceroid lipofuscinosis
type 2 (CLN2) disease, a form of Batten disease, is characterized by seizures, rapid deterioration of language and motor functions, cognitive decline, loss of vision and blindness, and premature death by mid-childhood.
a leading clinical-stage biopharmaceutical company focused on developing novel gene and cell therapies for life-threatening rare diseases, and REGENXBIO, a leading clinical-stage biotechnology company seeking to improve lives through the curative potential of gene therapy based on its proprietary NAV Technology Platform, today announced a license agreement to REGENXBIOs NAV AAV9 vector for the treatment of four diseases: Sanfilippo syndrome type A (MPS IIIA), Sanfilippo syndrome type B (MPS IIIB), Infantile Batten Disease, also known as neuronal ceroid lipofuscinosis
type 1 (CLN1 Disease), and Juvenile Batten Disease, also known as neuronal ceroid lipofuscinosis
type 3 (CLN3 Disease).
Regenxbio is developing a new product candidate, RGX-181, for the treatment of late-infantile neuronal ceroid lipofuscinosis
type 2 disease, one of the most common forms of Batten disease caused by mutations in the tripeptidyl peptidase 1 gene.
(STEM) has discontinued its Phase lb clinical trial in neuronal ceroid lipofuscinosis
(NCL, also referred to as Batten disease), a rare and fatal neurodegenerative disorder in children, due to a lack of patients who met the criteria for participation.
The proposed Phase 1 trial is designed to evaluate the safety and preliminary efficacy of HuCNS-SC for the treatment of infantile and late-infantile neuronal ceroid lipofuscinosis
(NCL), the most severe forms of a group of disorders commonly referred to as Batten disease.
Mutations in the palmitoyl protein thicesterase gene causing infantile neuronal ceroid lipofuscinosis
. Nature 1995;376:584-7.
Abeona Therapeutics announced that the European Medicines Agency Committee for Orphan Medicinal Products has granted Orphan Drug Designation for Abeona's gene therapy program ABO-202 for the treatment of subjects with neuronal ceroid lipofuscinosis
, also known as Batten Disease, a fatal lysosomal storage disease that primarily affects the nervous system in children.
M2 PHARMA-March 2, 2018-EMA Grants Polaryx Therapeutics Orphan Drug Designation for PLX-200 for Treatment of Neuronal Ceroid Lipofuscinosis