NEW YORK – Genomenon said Thursday that it is partnering with Mirum Pharmaceuticals to improve the awareness and diagnosis of cerebrotendinous xanthomatosis (CTX) through genetic data sharing.
CTX is a rare inherited metabolic disorder characterized by variants in the CYP27A1 gene, which plays a crucial role in bile acid synthesis. This genetic defect leads to the toxic accumulation of cholesterol and cholestanol deposits throughout the body, particularly in the brain, tendons, and other tissues.
Foster City, California-based Mirum, which has a drug called Chenodal (chenodiol) for CTX in Phase IIb/Phase III development, has selected Ann Arbor, Michigan-based Genomenon to produce a "variant landscape" on CYP27A1 gene variants, a spokesperson said in an email.
This landscape is classified according to American College of Medical Genetics/Association for Molecular Pathology guidelines and will enhance the understanding of CTX's genetic basis, and Mirum will make the variant information available on Genomenon's Mastermind genomic database.
According to the spokesperson, more than 2,000 clinical labs across more than 140 countries currently use Mastermind.
"Early and accurate diagnosis is crucial for individuals living with genetic diseases, like CTX, and enhanced genetic data access will significantly help with the diagnostic journey," Mark Kiel, CSO and cofounder of Genomenon, said in a statement. "Providing easy access to critical evidence enables faster, more accurate interpretation of genetic tests, thus promoting disease awareness and increased diagnostic rates."