Rare monogenic disorders are a group of single-gene-mutated diseases that have a low incidence rate (less than 0.5‰) and eventually lead to patient disability and even death. Due to the relatively low number of people affected, these diseases typically fail to attract a great deal of commercial investment and research interest, and the affected patients thus have unmet medical needs. Advances in genomics biology, gene editing, and gene delivery can now offer potentially effective options for treating rare monogenic diseases. Herein, we review the application of gene therapy strategies (traditional gene therapy and gene editing) against various rare monogenic diseases with nuclear or mitochondrial gene mutations, including eye, central nervous system, pulmonary, systemic, and blood cell diseases. We summarize their pathologic features, address the barriers to gene delivery for these diseases, discuss available therapies in the clinic and in clinical trials, and sum up in-development gene delivery systems for various rare monogenic disorders. Finally, we elaborate the possible directions and outlook of gene therapy for rare monogenic disorders.

Lysinuric Protein Intolerance (LPI) is a rare metabolic disorder with reduced renal and intestinal reabsorption of ornithine, lysine and arginine, due to mutations in the SLC7A7 gene encoding the y+LAT1 transporter, leading to urea cycle defects with protein intolerance. Furthermore, chronic kidney disease (CKD) in LPI is common and can progress to end stage kidney disease requiring renal replacement therapy. Kidney transplantation could in theory improve urine levels and consequently plasma levels of these amino acids and therefore improve clinical symptoms as well as protein intolerance in LPI patients. However data on kidney transplantation in LPI patients is limited and up till now no data on clinical and biochemical improvement after kidney transplantation has been reported. In this case report we describe a rare case of kidney transplantation in a LPI patient with significant improvement in protein tolerance, plasma and urine levels of ornithine, lysine and arginine and on LPI symptoms.

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Sofia
Journal Co-ordinator
Journal of Rare Disorders: Diagnosis & Therapy