Human-based complex in vitro models: their promise and potential for rare disease therapeutics
Rare diseases affect a small percentage of an individual country’s population; however, with over 7,000 in total, rare diseases represent a significant disease burden impacting up to 10% of the world’s population. Despite this, there are no approved treatments for almost 95% of rare diseases, and th...
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| Language: | English |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2025.1526306/full |
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| author | Surat Parvatam Francesca Pistollato Lindsay J. Marshall Fabia Furtmann Devashree Jahagirdar Mohua Chakraborty Choudhury Sujata Mohanty Harshita Mittal Saveetha Meganathan Rakesh Mishra |
| author_facet | Surat Parvatam Francesca Pistollato Lindsay J. Marshall Fabia Furtmann Devashree Jahagirdar Mohua Chakraborty Choudhury Sujata Mohanty Harshita Mittal Saveetha Meganathan Rakesh Mishra |
| author_sort | Surat Parvatam |
| collection | DOAJ |
| description | Rare diseases affect a small percentage of an individual country’s population; however, with over 7,000 in total, rare diseases represent a significant disease burden impacting up to 10% of the world’s population. Despite this, there are no approved treatments for almost 95% of rare diseases, and the existing treatments are cost-intensive for the patients. More than 70% of rare diseases are genetic in nature, with patient-specific mutations. This calls for the need to have personalised and patient-specific preclinical models that can lead to effective, speedy, and affordable therapeutic options. Complex in vitro models (CIVMs), including those using induced pluripotent stem cells (iPSCs), organoids, and organs-on-chips are emerging as powerful human-based pre-clinical systems with the capacity to provide efficacy data enabling drugs to move into clinical trials. In this narrative review, we discuss how CIVMs are providing insights into biomedical research on rare diseases. We also discuss how these systems are being used in clinical trials to develop efficacy models for rare diseases. Finally, we propose recommendations on how human relevant CIVMs could be leveraged to increase translatability of basic, applied and nonclinical research outcomes in the field of rare disease therapeutics in developed as well as middle-and low-income countries. |
| format | Article |
| id | doaj-art-76c712358b91490198651fe339688548 |
| institution | Kabale University |
| issn | 2296-634X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj-art-76c712358b91490198651fe3396885482025-01-27T06:40:37ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2025-01-011310.3389/fcell.2025.15263061526306Human-based complex in vitro models: their promise and potential for rare disease therapeuticsSurat Parvatam0Francesca Pistollato1Lindsay J. Marshall2Fabia Furtmann3Devashree Jahagirdar4Mohua Chakraborty Choudhury5Sujata Mohanty6Harshita Mittal7Saveetha Meganathan8Rakesh Mishra9Department of Research and Toxicology, Humane Society International/India, Hyderabad, IndiaDepartment of Research and Toxicology, Humane Society International/Europe, Brussels, BelgiumAnimal Research Issues, The Humane Society of the United States, Washington DC, DC, United StatesDepartment of Research and Toxicology, Humane Society International/Europe, Brussels, BelgiumDepartment of Chemical Engineering, Indian Institute of Technology (IIT), Mumbai, Maharashtra, IndiaDST Centre for Policy Research, Indian Institute of Science, Bangalore, IndiaStem Cell Facility (DBT-Centre of Excellence for Stem Cell Research), All India Institute of Medical Sciences, New Delhi, IndiaDepartment of Research and Toxicology, Humane Society International/India, Hyderabad, IndiaCommunity Engagement and Policy Stewardship, Tata Institute for Genetics and Society, Bangalore, IndiaTata Institute for Genetics and Society, Bangalore, IndiaRare diseases affect a small percentage of an individual country’s population; however, with over 7,000 in total, rare diseases represent a significant disease burden impacting up to 10% of the world’s population. Despite this, there are no approved treatments for almost 95% of rare diseases, and the existing treatments are cost-intensive for the patients. More than 70% of rare diseases are genetic in nature, with patient-specific mutations. This calls for the need to have personalised and patient-specific preclinical models that can lead to effective, speedy, and affordable therapeutic options. Complex in vitro models (CIVMs), including those using induced pluripotent stem cells (iPSCs), organoids, and organs-on-chips are emerging as powerful human-based pre-clinical systems with the capacity to provide efficacy data enabling drugs to move into clinical trials. In this narrative review, we discuss how CIVMs are providing insights into biomedical research on rare diseases. We also discuss how these systems are being used in clinical trials to develop efficacy models for rare diseases. Finally, we propose recommendations on how human relevant CIVMs could be leveraged to increase translatability of basic, applied and nonclinical research outcomes in the field of rare disease therapeutics in developed as well as middle-and low-income countries.https://www.frontiersin.org/articles/10.3389/fcell.2025.1526306/fullrare diseasesorganoidsiPSCsCIVMcystic fibrosisorgan-on-chip |
| spellingShingle | Surat Parvatam Francesca Pistollato Lindsay J. Marshall Fabia Furtmann Devashree Jahagirdar Mohua Chakraborty Choudhury Sujata Mohanty Harshita Mittal Saveetha Meganathan Rakesh Mishra Human-based complex in vitro models: their promise and potential for rare disease therapeutics Frontiers in Cell and Developmental Biology rare diseases organoids iPSCs CIVM cystic fibrosis organ-on-chip |
| title | Human-based complex in vitro models: their promise and potential for rare disease therapeutics |
| title_full | Human-based complex in vitro models: their promise and potential for rare disease therapeutics |
| title_fullStr | Human-based complex in vitro models: their promise and potential for rare disease therapeutics |
| title_full_unstemmed | Human-based complex in vitro models: their promise and potential for rare disease therapeutics |
| title_short | Human-based complex in vitro models: their promise and potential for rare disease therapeutics |
| title_sort | human based complex in vitro models their promise and potential for rare disease therapeutics |
| topic | rare diseases organoids iPSCs CIVM cystic fibrosis organ-on-chip |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2025.1526306/full |
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