ASL

Researchers have succeeded in correcting a gene defect that causes a hereditary liver disease and its adverse effects on cells. Researchers at the University of Helsinki and HUS Helsinki University Hospital have succeeded in correcting a gene defect that causes a hereditary liver disease and its adverse effects on cells. Argininosuccinate lyase deficiency (ASLD), also known as argininosuccinic aciduria, is a disease that has been enriched in the Finnish genetic heritage. In this severe metabolic disease, the body does not process proteins normally, instead resulting in a very dangerous accumulation of argininosuccinic acid and ammonia. Excess ammonia causes disturbances of consciousness, coma and even death. In Finland, infants are screened for ASLD to determine the disease risk before symptoms develop. The treatment is an extremely strict lifelong diet and, in severe cases, a liver transplant. Researchers from the University of Helsinki and HUS Helsinki University Hospital have succeeded in correcting the gene defect associated with argininosuccinic aciduria and demonstrated that the harmful metabolism caused by the disease can be cured. In their recently completed study, they initially modified the skin cells of patients with ASLD into stem cells. Subsequently, the researchers reprogrammed the disease-causing gene defects in the stem cells using the CRISPR-Cas9 technique, known as gene scissors. Finally, the researchers guided the corrected stem cells to differentiate into liver cells to see whether the disease that impairs hepatic function was actually cured and that the fixed cells no longer produced the harmful argininosuccinic acid. "In our study, we demonstrated for the first time that the gene defect causing ASLD can be corrected with gene scissors without any adverse effects visible in the cells. The gene-corrected cells were also metabolically improved," says Docent of Stem Cell Biology Kirmo Wartiovaara, specialist in medical genetics, from the University of Helsinki and HUS. The study was published in the American Journal of Human Genetics. Researchers discover a suitable "gene mixture" in a drug already in use In the study, the researchers used mRNA encapsulated inside lipid nanoparticles to get the gene scissors inside the cultured cells. "This 'gene mixture' we produced is based on the formula of a pharmaceutical product already in use, which may facilitate its clinical use in the future. Our next goal is to cure ASLD in mice," says Doctoral Researcher Timo Keskinen from the University of Helsinki. "The same gene editing technique works on living animals and humans, but we don't yet know how safe it is. This is why the matter has to be investigated first in laboratory animals," Keskinen adds. Therapeutic potential at last for hereditary diseases There are already more than 7,000 hereditary diseases in the world. Finns, as well as other populations originating in small groups of people, have their own genetic disease variants that are more common in the population than elsewhere in the world. Many of these gene variants of our distant ancestors are such that if a child inherits the same variant from both parents, they may develop a severe disease. Treatments are available for only a handful of hereditary diseases, and curative therapies are even more rare. "However, a cure could be possible if the gene defect causing the disease is eliminated entirely. Thanks to basic research carried out with the help of gene scissors and other precise gene-editing techniques, permanent fixes are gradually starting to emerge," Wartiovaara says. The study is part of the doctoral theses of Sami Jalil and Timo Keskinen, supervised at the Biomedicum Stem Cell Center of the Biomedicum Helsinki research institute by Docent Kirmo Wartiovaara and Mervi Hyvönen, DMedSc.

DUBLIN, Aug. 23, 2023 /PRNewswire/ -- The "Global Urea Cycle Disorders Treatment Market 2017-2027" report has been added to ResearchAndMarkets.com's offering. The global urea cycle disorders treatment market is poised for impressive growth in the forecast period from 2023 to 2027. This upward trajectory is fueled by a combination of factors, including the increasing prevalence of urea cycle disorders and substantial research and development efforts. Various catalysts are propelling this market's expansion, including heightened investments in research and development, growing initiatives by key industry players, heightened awareness, improved healthcare services, and a surge in innovative diagnostic methods. Rising Prevalence of Urea Cycle Disorders A surge in the prevalence of urea cycle disorders is expected to drive global market growth. Reports from the Centers for Disease Control and Prevention (CDC) indicate a projected incidence of 1 in 8500 births for urea cycle disorders. However, the actual number may be higher due to undiagnosed cases. It is estimated that up to 20% of Sudden Infant Death Syndrome (SIDS) cases may be attributed to undiagnosed inborn metabolic errors such as urea cycle disorders. This underscores the urgency of addressing and treating these disorders, thus catalyzing growth in the urea cycle disorders treatment market. Initiatives and Awareness Fueling Growth Governments and private organizations worldwide have ramped up efforts to support market growth. These initiatives encompass substantial investments in research and development, increased awareness campaigns, extensive research endeavors, clinical trials, and streamlined regulatory approvals. For instance, the merger of Mead Johnson Nutrition Company (MJN) with Reckitt Benckiser Group plc (RB) in 2017 bolstered the dietary management of urea cycle disorders by integrating brands like Enfa and Nutramigen into RB's consumer health portfolio. Similarly, Horizon Pharma plc's UCD in Common initiative offers resources and support for individuals with urea cycle disorders and their families. Leading Players and Geographic Outlook Market players shaping the global urea cycle disorders treatment market landscape include: Bausch Health Companies Inc. Recordati Rare Diseases Eurocept Pharmaceuticals Holding (Lucane Pharma SA) Acer Therapeutics Ultragenyx Pharmaceutical Aeglea BioTherapeutics Arcturus Therapeutics, Inc. Orpharma Pty. Ltd. Selecta Biosciences, Inc Abbott Laboratories, Inc. In terms of geographic spread, the United States is anticipated to be a pivotal market due to its escalating cases of urea cycle disorders. Conclusion: Navigating the Path Forward As the global urea cycle disorders treatment market marches ahead, it is driven by an amalgamation of factors that recognize the critical importance of addressing these genetic disorders. The rising prevalence, backed by initiatives, investments, and awareness, underscores the market's growth potential. A meticulously segmented market landscape, comprising diverse enzyme deficiency types, treatment options, routes of administration, and distribution channels, reflects the multifaceted approach adopted to combat urea cycle disorders. Amid these dynamics, leading players are contributing their expertise, while geographic trends emphasize the significance of targeted interventions. As the market evolves, it holds the promise of transforming lives and healthcare outcomes on a global scale. Report Scope In this report, global urea cycle disorders treatment market has been segmented into the following categories, in addition to the industry trends, which have also been detailed below. Urea Cycle Disorders Treatment Market, By Enzyme Deficiency Type: Carbamyl Phosphate Synthetase (CPS1) N-Acetylglutamate Synthetase (NAGS) Ornithine Transcarbamylase (OTC Deficiency) Argininosuccinic Acid Synthetase (AS) Argininosuccinate Lyase (AL or ASA Lyase) Arginase (AG) Urea Cycle Disorders Treatment Market, By Treatment Type: Amino Acid Formulas Phenylbutyrate Sodium Benzoate Others Urea Cycle Disorders Treatment Market, By Route of Administration: Oral Intravenous Urea Cycle Disorders Treatment Market, By Distribution Channel: Hospital Pharmacies Retail Pharmacies Online Pharmacies Urea Cycle Disorders Treatment Market, By Region: North America Asia-Pacific Europe & CIS South America Middle East & Africa Key Topics Covered 1. Product Overview 2. Research Methodology 3. Impact of COVID-19 on Global Urea Cycle Disorders Treatment Market 4. Voice of Customer 5. Executive Summary 6. Global Urea Cycle Disorders Treatment Market Outlook 7. North America Urea Cycle Disorders Treatment Market Outlook 8. Europe Urea Cycle Disorders Treatment Market Outlook 9. Asia-Pacific Urea Cycle Disorders Treatment Market Outlook 10. South America Urea Cycle Disorders Treatment Market Outlook 11. Middle East and Africa Urea Cycle Disorders Treatment Market Outlook 12. Market Dynamics 13. Market Trends & Developments 14. Competitive Landscape 15. Strategic Recommendations For more information about this report visit About ResearchAndMarkets.com ResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends. 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