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Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses
BACKGROUND: Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
JMIR Publications
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666222/ https://www.ncbi.nlm.nih.gov/pubmed/29046268 http://dx.doi.org/10.2196/resprot.7989 |
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author | Ajayi, Oluwaseun Jessica Smith, Ebony Jeannae Viangteeravat, Teeradache Huang, Eunice Y Nagisetty, Naga Satya V Rao Urraca, Nora Lusk, Laina Finucane, Brenda Arkilo, Dimitrios Young, Jennifer Jeste, Shafali Thibert, Ronald Reiter, Lawrence T |
author_facet | Ajayi, Oluwaseun Jessica Smith, Ebony Jeannae Viangteeravat, Teeradache Huang, Eunice Y Nagisetty, Naga Satya V Rao Urraca, Nora Lusk, Laina Finucane, Brenda Arkilo, Dimitrios Young, Jennifer Jeste, Shafali Thibert, Ronald Reiter, Lawrence T |
author_sort | Ajayi, Oluwaseun Jessica |
collection | PubMed |
description | BACKGROUND: Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions. OBJECTIVE: The goal of this project is to establish a national deidentified database with clinical and survey information on individuals diagnosed with Dup15q syndrome. METHODS: The development of a multiclinic site repository for clinical and survey data on individuals with Dup15q syndrome was initiated and supported by the Dup15q Alliance. Using collaborative workflows, communication protocols, and stakeholder engagement tools, a comprehensive database of patient-centered information was built. RESULTS: We successfully established a self-report populating, centralized repository for Dup15q syndrome research. This repository also resulted in the development of standardized instruments that can be used for other studies relating to developmental disorders. By standardizing the data collection instruments, it allows us integrate our data with other national databases, such as the National Database for Autism Research. A substantial portion of the data collected from the questionnaires was facilitated through direct engagement of participants and their families. This allowed for a more complete set of information to be collected with a minimal turnaround time. CONCLUSIONS: We developed a repository that can efficiently be mined for shared clinical phenotypes observed at multiple clinic sites and used as a springboard for future clinical and basic research studies. |
format | Online Article Text |
id | pubmed-5666222 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | JMIR Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-56662222017-11-28 Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses Ajayi, Oluwaseun Jessica Smith, Ebony Jeannae Viangteeravat, Teeradache Huang, Eunice Y Nagisetty, Naga Satya V Rao Urraca, Nora Lusk, Laina Finucane, Brenda Arkilo, Dimitrios Young, Jennifer Jeste, Shafali Thibert, Ronald Reiter, Lawrence T JMIR Res Protoc Protocol BACKGROUND: Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare disorder caused by duplications of chromosome 15q11.2-q13.1, resulting in a wide range of developmental disabilities in affected individuals. The Dup15q Alliance is an organization that provides family support and promotes research to improve the quality of life of patients living with Dup15q syndrome. Because of the low prevalence of this condition, the establishment of a single research repository would have been difficult and more time consuming without collaboration across multiple institutions. OBJECTIVE: The goal of this project is to establish a national deidentified database with clinical and survey information on individuals diagnosed with Dup15q syndrome. METHODS: The development of a multiclinic site repository for clinical and survey data on individuals with Dup15q syndrome was initiated and supported by the Dup15q Alliance. Using collaborative workflows, communication protocols, and stakeholder engagement tools, a comprehensive database of patient-centered information was built. RESULTS: We successfully established a self-report populating, centralized repository for Dup15q syndrome research. This repository also resulted in the development of standardized instruments that can be used for other studies relating to developmental disorders. By standardizing the data collection instruments, it allows us integrate our data with other national databases, such as the National Database for Autism Research. A substantial portion of the data collected from the questionnaires was facilitated through direct engagement of participants and their families. This allowed for a more complete set of information to be collected with a minimal turnaround time. CONCLUSIONS: We developed a repository that can efficiently be mined for shared clinical phenotypes observed at multiple clinic sites and used as a springboard for future clinical and basic research studies. JMIR Publications 2017-10-18 /pmc/articles/PMC5666222/ /pubmed/29046268 http://dx.doi.org/10.2196/resprot.7989 Text en ©Oluwaseun Jessica Ajayi, Ebony Jeannae Smith, Teeradache Viangteeravat, Eunice Y Huang, Naga Satya V Rao Nagisetty, Nora Urraca, Laina Lusk, Brenda Finucane, Dimitrios Arkilo, Jennifer Young, Shafali Jeste, Ronald Thibert, The Dup15q Alliance, Lawrence T Reiter. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 18.10.2017. https://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work, first published in JMIR Research Protocols, is properly cited. The complete bibliographic information, a link to the original publication on http://www.researchprotocols.org, as well as this copyright and license information must be included. |
spellingShingle | Protocol Ajayi, Oluwaseun Jessica Smith, Ebony Jeannae Viangteeravat, Teeradache Huang, Eunice Y Nagisetty, Naga Satya V Rao Urraca, Nora Lusk, Laina Finucane, Brenda Arkilo, Dimitrios Young, Jennifer Jeste, Shafali Thibert, Ronald Reiter, Lawrence T Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses |
title | Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses |
title_full | Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses |
title_fullStr | Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses |
title_full_unstemmed | Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses |
title_short | Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses |
title_sort | multisite semiautomated clinical data repository for duplication 15q syndrome: study protocol and early uses |
topic | Protocol |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666222/ https://www.ncbi.nlm.nih.gov/pubmed/29046268 http://dx.doi.org/10.2196/resprot.7989 |
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