References in periodicals archive

Biotechnology company REGENXBIO Inc (Nasdaq:RGNX) reported on Thursday the receipt of the US Food and Drug Administration's (FDA) Rare Pediatric Disease Designation for RGX-181 for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease.

REGENXBIO wins US FDA's Rare Pediatric Disease Designation for RGX-181 Gene Therapy for the CLN2 Batten Disease

REGENXBIO (RGNX) and Abeona Therapeutics (ABEO) announced a license agreement to REGENXBIO's NAV AAV9 vector for the treatment of four diseases: Sanfilippo syndrome type A, Sanfilippo syndrome type B, Infantile Batten Disease, also known as neuronal ceroid lipofuscinosis type 1, and Juvenile Batten Disease, also known as neuronal ceroid lipofuscinosis type 3.

Regenxbio, Abeona Therapeutics announce license agreement

The panel was prepared using a NimbleGen SeqCap EZ Choice kit (Roche, Basel, Switzerland), which included 927 disease-causative genes of the neurogenetic disease, containing progressive myoclonic epilepsy, hereditary ataxia, mitochondrial diseases, neuronal ceroid lipofuscinosis and other neurogenetic diseases.

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

58 children with neuronal ceroid lipofuscinosis showed much smaller NAA peaks and decreased values of the NAA/Cr ratios and elevated ml peak in 27 patients with biochemical genetic analysis.

MAGNETIC RESONANCE SPECTROSCOPY IN CHILDREN WITH NON-ACUTE NEUROLOGICAL ILLNESS

A fatal lysosomal storage disease of the nervous system caused by autosomal-recessive mutations in the CLN1 gene, also known as infantile neuronal ceroid lipofuscinosis (INCL), infantile Batten disease is an inherited fatal genetic disease that primarily affects the nervous system in newborns and progresses rapidly.

ABEON'S ABO-202 RECEIVES FDA ODD DESIGNATION

Interestingly, there was one patient who was diagnosed with neuronal ceroid lipofuscinosis (NCL), which is generally refractory to other AEDs; this patient showed significant improvement in seizure frequency as described below.

Effectiveness and Adverse Effect of Intravenous Lacosamide in Nonconvulsive Status Epilepticus and Acute Repetitive Seizures in Children

Brineura is the first FDA-approved treatment to slow loss of walking ability in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.

Novartis gains Rydapt approval for AML: BioMarin's Brineura wins FDA approval for Batten disease

TPP1 deficiency results in classic late infantile (type 2) neuronal ceroid lipofuscinosis (LINCL, also called Jansky-Bielschowsky disease) (9).

Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis

Epilepsy and antiepileptic drug therapy in juvenile neuronal ceroid lipofuscinosis. Epilepsia 2000; 41:1296-1302.

Batten disease: a rare case report and review of literature

lipofuscinosis

lip·o·fus·ci·no·sis