Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: JMIR Publications 2017
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
_version_ 1783275265198129152
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
work_keys_str_mv AT ajayioluwaseunjessica multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT smithebonyjeannae multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT viangteeravatteeradache multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT huangeunicey multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT nagisettynagasatyavrao multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT urracanora multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT lusklaina multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT finucanebrenda multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT arkilodimitrios multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT youngjennifer multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT jesteshafali multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT thibertronald multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses
AT reiterlawrencet multisitesemiautomatedclinicaldatarepositoryforduplication15qsyndromestudyprotocolandearlyuses