The Current Treatment of Rare Disease, Lysosomal Acid Lipase Deficiency (LAL-D) and Paroxysmal Nocturnal Haemoglobinuria (PNH)

Abstract

The Paroxysmal Nocturnal Hemoglobinuria (PNH) and Lysosomal acid Lipase Deficiency (LAL-D) are rare disorder disease. Ultomiris and Soliris for PNH and Kanuma for LAL-D are innovative treatments for PNH and LAL-D, respectively. These therapies can treat each ultra-rare condition by alleviating symptoms and lowering mortality rates for both diseases. The aim of this research is to investigate the rare diseases PNH and LAL-D, as well as the existing treatments for both. Each medicine should be safe and have a good therapeutic effect, with a wide range of benefits and few adverse effects. PRISMA (Preferred Reporting Items for Systematic Reviews) was used to evaluate three treatments: Ultomiris and Soliris for PNH and Kanuma for LAL-D. The search was limited to scientific research articles and clinical trials (Publication years between 2007 and 2022). In the analysis, 20 studies were chosen based on their treatment, concentration, population, year of publication, outcomes, and references. Extensive study on the present treatment of PNH and LAL-D was used to draw conclusions on the overall benefits, distribution, efficacy, and safety of the medicines. This study was also utilised to validate the overall improvement in the lives of people with PNH and LAL-D. Ultomiris has an average effect of 96.5% on PNH symptoms, including hemolysis events. Kanuma has a 90% typical impact against LAL-D by reducing symptoms such as LDL-C and normalising Aspartate Aminotransferase (AST) levels (LAL-D symptoms), whilst Soliris has an average 97% effect against PNH, by reducing the presence of lactate dehydrogenase, for example.