Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency

Peng, Minzhi; Li, Xiuzhen; Mei, Hongbing; Sheng, Huiying; Xi, Yin; Jiang, Mao Fa; Cai, Yamei; Ling, Su; Lin, Yunting; Shao, Youxiang; Liu, Li

doi:10.1016/j.clinbiochem.2020.06.011

Cited by 4 publications

(10 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…OTC enzyme is involved in the nitrogen metabolism, and the lack of this protein results in high blood ammonia levels that might lead to seizure and coma state in untreated patients. The current treatment is a low protein diet and ammonia scavenging medication, with future insights on liver transplantation (Peng et al, 2020). ARCT-810 is formulated in a novel pH-responsive lipid delivery system named LUNAR R , that aims at superseding the lack of native OTC providing a complete copy of its mRNA, thus restoring enzyme levels to establish a regular urea cycle.…”

Section: Translation Into the Clinic Of Lipid (But Not Solid) Nanoparticlesmentioning

confidence: 99%

Solid Lipid Nanoparticles for Drug Delivery: Pharmacological and Biopharmaceutical Aspects

Montoto

Muraca

Ruiz

2020

Front. Mol. Biosci.

395

148

View full text Add to dashboard Cite

Section: Translation Into the Clinic Of Lipid (But Not Solid) Nanoparticlesmentioning

confidence: 99%

Solid Lipid Nanoparticles for Drug Delivery: Pharmacological and Biopharmaceutical Aspects

Montoto

Muraca

Ruiz

2020

Front. Mol. Biosci.

395

148

View full text Add to dashboard Cite

“…OTD is more specifically caused by a deficiency in ornithine transcarbamylase (OTC). Therapeutic options for these patients include a protein-restricted diet for life, with arginine and citrulline supplementation, but liver transplantation is the only therapeutic option in cases of severe OTC deficiency [189]. In this study, the mRNA administration resulted in increased OTC enzymatic activity up to 10 days after dosing, along with increased mice survival [190].…”

Section: Ornithine Transcarbamylase Deficiency (Otd)mentioning

confidence: 72%

The Potential of Nanomedicine to Unlock the Limitless Applications of mRNA

Taina-González

Fuente

2022

Pharmaceutics

View full text Add to dashboard Cite

The year 2020 was a turning point in the way society perceives science. Messenger RNA (mRNA) technology finally showed and shared its potential, starting a new era in medicine. However, there is no doubt that commercialization of these vaccines would not have been possible without nanotechnology, which has finally answered the long-term question of how to deliver mRNA in vivo. The aim of this review is to showcase the importance of this scientific milestone for the development of additional mRNA therapeutics. Firstly, we provide a full description of the marketed vaccine formulations and disclose LNPs’ pharmaceutical properties, including composition, structure, and manufacturing considerations Additionally, we review different types of lipid-based delivery technologies currently in preclinical and clinical development, namely lipoplexes and cationic nanoemulsions. Finally, we highlight the most promising clinical applications of mRNA in different fields such as vaccinology, immuno-oncology, gene therapy for rare genetic diseases and gene editing using CRISPR Cas9.

show abstract

“…Accumulation of extra amounts of fumarylacetoacetate could lead to acute cell apoptosis and severe liver dysfunction [ 115 ]. Such a cytotoxic effect has also been shown to be helpful to grant a growth advantage to allogenic FAH-proficient hepatocytes [ 116 ]. Since 1992, NTBC/nitisinone, a selective drug working as an inhibitor of 4-Hydroxyphenylpyruvate dioxygenase, has been offered as a successful treatment in combination with a restricted diet, poor in tyrosine and phenylalanine amino acids [ 117 , 118 ].…”

Section: Tyrosinemia Type Imentioning

confidence: 99%

Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders

et al. 2022

View full text Add to dashboard Cite

The majority of monogenic liver diseases are autosomal recessive disorders, with few being sex-related or co-dominant. Although orthotopic liver transplantation (LT) is currently the sole therapeutic option for end-stage patients, such an invasive surgical approach is severely restricted by the lack of donors and post-transplant complications, mainly associated with life-long immunosuppressive regimens. Therefore, the last decade has witnessed efforts for innovative cellular or gene-based therapeutic strategies. Gene therapy is a promising approach for treatment of many hereditary disorders, such as monogenic inborn errors. The liver is an organ characterized by unique features, making it an attractive target for in vivo and ex vivo gene transfer. The current genetic approaches for hereditary liver diseases are mediated by viral or non-viral vectors, with promising results generated by gene-editing tools, such as CRISPR-Cas9 technology. Despite massive progress in experimental gene-correction technologies, limitations in validated approaches for monogenic liver disorders have encouraged researchers to refine promising gene therapy protocols. Herein, we highlighted the most common monogenetic liver disorders, followed by proposed genetic engineering approaches, offered as promising therapeutic modalities.

show abstract

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency

Cited by 4 publications

References 37 publications

Solid Lipid Nanoparticles for Drug Delivery: Pharmacological and Biopharmaceutical Aspects

Solid Lipid Nanoparticles for Drug Delivery: Pharmacological and Biopharmaceutical Aspects

The Potential of Nanomedicine to Unlock the Limitless Applications of mRNA

Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders

Contact Info

Product

Resources

About