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The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness
BACKGROUND: Rare diseases are estimated to affect 150–350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for therapy development. Rare disease research has therefore pivoted from gene disc...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299589/ https://www.ncbi.nlm.nih.gov/pubmed/34301277 http://dx.doi.org/10.1186/s13023-021-01953-8 |
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author | Spahr, Aaron Rosli, Zaliqa Legault, Mélanie Tran, Luan T. Fournier, Simon Toutounchi, Helia Darbelli, Lama Madjar, Cécile Lucia, Cassandra St-Jean, Marie-Lou Das, Samir Evans, Alan C. Bernard, Geneviève |
author_facet | Spahr, Aaron Rosli, Zaliqa Legault, Mélanie Tran, Luan T. Fournier, Simon Toutounchi, Helia Darbelli, Lama Madjar, Cécile Lucia, Cassandra St-Jean, Marie-Lou Das, Samir Evans, Alan C. Bernard, Geneviève |
author_sort | Spahr, Aaron |
collection | PubMed |
description | BACKGROUND: Rare diseases are estimated to affect 150–350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for therapy development. Rare disease research has therefore pivoted from gene discovery to the exploration of potential therapies. With impending clinical trials on the horizon, researchers are in urgent need of natural history studies to help them identify surrogate markers, validate outcome measures, define historical control patients, and design therapeutic trials. RESULTS: We customized a browser-accessible multi-modal (e.g. genetics, imaging, behavioral, patient-determined outcomes) database to increase cohort sizes, identify surrogate markers, and foster international collaborations. Ninety data entry forms were developed including family, perinatal, developmental history, clinical examinations, diagnostic investigations, neurological evaluations (i.e. spasticity, dystonia, ataxia, etc.), disability measures, parental stress, and quality of life. A customizable clinical letter generator was created to assist in continuity of patient care. CONCLUSIONS: Small cohorts and underpowered studies are a major challenge for rare disease research. This online, rare disease database will be accessible from all over the world, making it easier to share and disseminate data. We have outlined the methodology to become Title 21 Code of Federal Regulations Part 11 Compliant, which is a requirement to use electronic records as historical controls in clinical trials in the United States. Food and Drug Administration compliant databases will be life-changing for patients and families when historical control data is used for emerging clinical trials. Future work will leverage these tools to delineate the natural history of several rare diseases and we are confident that this database will be used on a larger scale to improve care for patients affected with rare diseases. |
format | Online Article Text |
id | pubmed-8299589 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-82995892021-07-28 The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness Spahr, Aaron Rosli, Zaliqa Legault, Mélanie Tran, Luan T. Fournier, Simon Toutounchi, Helia Darbelli, Lama Madjar, Cécile Lucia, Cassandra St-Jean, Marie-Lou Das, Samir Evans, Alan C. Bernard, Geneviève Orphanet J Rare Dis Research BACKGROUND: Rare diseases are estimated to affect 150–350 million people worldwide. With advances in next generation sequencing, the number of known disease-causing genes has increased significantly, opening the door for therapy development. Rare disease research has therefore pivoted from gene discovery to the exploration of potential therapies. With impending clinical trials on the horizon, researchers are in urgent need of natural history studies to help them identify surrogate markers, validate outcome measures, define historical control patients, and design therapeutic trials. RESULTS: We customized a browser-accessible multi-modal (e.g. genetics, imaging, behavioral, patient-determined outcomes) database to increase cohort sizes, identify surrogate markers, and foster international collaborations. Ninety data entry forms were developed including family, perinatal, developmental history, clinical examinations, diagnostic investigations, neurological evaluations (i.e. spasticity, dystonia, ataxia, etc.), disability measures, parental stress, and quality of life. A customizable clinical letter generator was created to assist in continuity of patient care. CONCLUSIONS: Small cohorts and underpowered studies are a major challenge for rare disease research. This online, rare disease database will be accessible from all over the world, making it easier to share and disseminate data. We have outlined the methodology to become Title 21 Code of Federal Regulations Part 11 Compliant, which is a requirement to use electronic records as historical controls in clinical trials in the United States. Food and Drug Administration compliant databases will be life-changing for patients and families when historical control data is used for emerging clinical trials. Future work will leverage these tools to delineate the natural history of several rare diseases and we are confident that this database will be used on a larger scale to improve care for patients affected with rare diseases. BioMed Central 2021-07-23 /pmc/articles/PMC8299589/ /pubmed/34301277 http://dx.doi.org/10.1186/s13023-021-01953-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Spahr, Aaron Rosli, Zaliqa Legault, Mélanie Tran, Luan T. Fournier, Simon Toutounchi, Helia Darbelli, Lama Madjar, Cécile Lucia, Cassandra St-Jean, Marie-Lou Das, Samir Evans, Alan C. Bernard, Geneviève The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness |
title | The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness |
title_full | The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness |
title_fullStr | The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness |
title_full_unstemmed | The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness |
title_short | The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness |
title_sort | loris myelineurogene rare disease database for natural history studies and clinical trial readiness |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299589/ https://www.ncbi.nlm.nih.gov/pubmed/34301277 http://dx.doi.org/10.1186/s13023-021-01953-8 |
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