Primary Hyperoxaluria (PH) is an ultra-rare autosomal recessive disease characterised by excessive production of oxalate in the liver. Oxalate is a highly insoluble metabolic end-product that is eliminated mainly by the kidney. Patients with PH are predisposed to the development of multiple and recurrent urinary tract (urolithiasis) and kidney (nephrolithiasis) stones. At present, no therapies are approved by regulatory authorities for the treatment of patients with PH. Incidence of PH is around 0.05 in 10,000 in the European Union.
A North American biotech sponsor required a Phase I study in Healthy Volunteers and primary hyperoxaluria patients for their novel IMP which was an Antisense RNAi Oligonucleotide being developed as a treatment for PH.