recombinant human acid ceramidase (ACG-801) / Aceragen - LARVOL DELTA

A 3D iPSC retina model reveals non-cell-autonomous and non-neuronal mechanism of photoreceptor degeneration in a lysosomal storage disorder. (PubMed, bioRxiv) - "Therapeutically, recombinant human acid ceramidase (rhAC) targeted both altered sphingolipid metabolism and retina degeneration in the CLN3 hPSC retina model and the CLN3 miniswine eye. These findings demonstrate a proof-of-concept that rhAC can rescue disease phenotype in a large animal model of CLN3 disease and suggest that rhAC could be a therapeutic approach for CLN3 disease. Acid ceramidase deficiency and consequently altered sphingolipid signaling promotes disease phenotype(s) in a lysosomal storage disorder, CLN3 disease."

Journal • CNS Disorders • Lysosomal Storage Diseases • Metabolic Disorders • Ophthalmology • Rare Diseases • Retinal Disorders

Identification of a Novel Acid Sphingomyelinase Activity Associated with Recombinant Human Acid Ceramidase. (PubMed, Biomolecules) - "We showed that this ASM activity was not due to contaminating, hamster-derived ASM in the rhAC preparation, and that the treatment of ASM-knockout mice with rhAC significantly reduced sphingomyelin storage in the liver. However, unlike the treatment with rhASM, this did not lead to elevated ceramide or sphingosine levels."

Journal • CNS Disorders • Epilepsy • Genetic Disorders • Metabolic Disorders • Movement Disorders • Muscular Atrophy • Rare Diseases

The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile. (PubMed, Ann Clin Transl Neurol) - "This study details the genotype-phenotype correlations observed in SMA-PME and shows the impact of rhAC to correct the abnormal cellular ceramide profile in cells."

Journal • Preclinical • CNS Disorders • Epilepsy • Genetic Disorders • Movement Disorders • Muscular Atrophy • Otorhinolaryngology • Rare Diseases