Argininosuccinic aciduria (ASA) is a disorder caused by argininosuccinate lyase (ASL) deficiency and is the second most common inherited urea cycle defect.

Researchers from the University of Pittsburgh presented preclinical data for novel messenger RNA (mRNA) therapy consisting of human very long chain acyl-CoA dehydrogenase (hVLCAD) mRNA; the product is being developed as a potential treatment of VLCAD deficiency.

The FDA has cleared Immusoft Corp.'s IND for ISP-001 (iduronicrin genleukocel-T) for the treatment of mucopolysaccharidosis type I (MPS I), allowing initiation of a phase I trial.

Preserving beta-cell mass and expansion is a key point in diabetes. Prolonged hyperglycemia may lead to glucose toxicity, which impairs insulin production and secretion, promoting a cycle with increasing glucose concentrations that promote a decline of beta-cell function and eventually their death.

The FDA has granted rare pediatric disease designation to iECURE's lead product candidate GTP-506 for the treatment of ornithine transcarbamylase (OTC) deficiency in a pediatric population.

Preterm birth is the leading cause of death in children under 5 and those who survive commonly suffer from life-long deleterious health impairments. Preterm labor (PTL) is defined as sustained contractions prior to 37 weeks of gestation, which occurs in about 10% of all pregnancies in the U.S. The mechanisms that initiate PTL are still not well understood; researchers aimed for the identification of molecular targets for PTL.

Earth Chemical has patented lipoprotein lipase (LPL) activators reported to be useful for the treatment of hypertriglyceridemia. An exemplified compound rescued LPL from N-terminal GST-tagged angiopoietin-like 4 (ANGPTL4)-induced inactivation (EC50 = 1.01 mcM) in fluorescence-based assays.