NP-61 / PharmaMar - LARVOL DELTA

Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene. (PubMed, Genes (Basel)) - "We confirmed, using Sanger sequencing based on whole-exon sequencing (WES) data, that all patients carried a heterozygous variant NM_012064.4:c.97C > T (NP_036196.1:p.R33C) in their MIP gene...These results also provide evidence that the elongated axial length might be associated with this variant. This study further confirms the phenotypic heterogeneity of CCs."

Journal • Cataract • Ophthalmology

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation. (PubMed, Hum Mol Genet) - "Here we report on a 5-year-old girl presenting psychomotor developmental delay, global hypotonia and severe ataxia due to axonal sensory neuropathy harboring a novel de novo heterozygous missense mutation in the GTPase domain of DRP1 (NM_012062.3:c.436G>A, NP_036192.2: p.D146N variant in DNM1L)...The p.D146N mutation compromises the GTPase activity without perturbing DRP1 recruitment or assembly, causing decreased mitochondrial and peroxisomal turnover. In conclusion, our findings highlight the importance of sensory neuropathy in the clinical spectrum of DRP1 variants and, for the first time, the impact of DRP1 mutations on mitochondrial turnover and peroxisomal functionality."

Journal • Ataxia • Developmental Disorders • Movement Disorders • Ocular Inflammation • Pain

A Study to Assess the Efficacy and Safety of SNP-610 for the Treatment of Patients With Non-alcoholic Steatohepatitis (clinicaltrials.gov) - P2; N=80; Not yet recruiting; Sponsor: Sinew Pharma Inc.; N=44 ➔ 80

Enrollment change • Biosimilar • Immunology • Metabolic Disorders • Non-alcoholic Fatty Liver Disease • Non-alcoholic Steatohepatitis

Interleukin 4 is inactivated via selective disulfide-bond reduction by extracellular thioredoxin. (PubMed, Proc Natl Acad Sci U S A) - "...In an effort to identify other extracellular substrates of TRX, macrophages derived from THP-1 cells were treated with NP161, a small-molecule inhibitor of secreted TRX...To demonstrate the physiological relevance of our biochemical findings, recombinant TRX was shown to attenuate IL-4-dependent proliferation of cultured TF-1 erythroleukemia cells and also to inhibit the progression of chronic pancreatitis in an IL-4-driven mouse model of this disease. By establishing that IL-4 is posttranslationally regulated by TRX-promoted reduction of a disulfide bond, our findings highlight a novel regulatory mechanism of the type 2 immune response that is specific to IL-4 over IL-13."

Journal • Biosimilar • Hematological Disorders • Hematological Malignancies • Immunology • Leukemia • Metabolic Disorders • Oncology • Pancreatitis

The Efficacy and Safety of SNP-610 for the Treatment of Patients With Non-alcoholic Steatohepatitis (clinicaltrials.gov) - P2; N=44; Not yet recruiting; Sponsor: Sinew Pharma Inc.

New P2 trial • Biosimilar • Metabolic Disorders • Non-alcoholic Fatty Liver Disease • Non-alcoholic Steatohepatitis

A Study to Assess the Efficacy and Safety of SNP-610 for the Treatment of Patients With Non-alcoholic Steatohepatitis (clinicaltrials.gov) - P2; N=80; Not yet recruiting; Sponsor: Sinew Pharma Inc.

New P2 trial • Biosimilar • Immunology • Metabolic Disorders • Non-alcoholic Fatty Liver Disease • Non-alcoholic Steatohepatitis