Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses

Area of Science:

• Genetics and genomics
• Developmental biology
• Rare diseases research

Background:

• Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a rare genetic disorder causing developmental disabilities.
• The Dup15q Alliance supports research and patient care for Dup15q syndrome.
• Low prevalence necessitates multi-institutional collaboration for research data collection.

Purpose of the Study:

• To establish a national deidentified database for Dup15q syndrome.
• To collect clinical and survey information from individuals diagnosed with Dup15q syndrome.

Main Methods:

• A multiclinic site repository was developed, supported by the Dup15q Alliance.
• Collaborative workflows, communication protocols, and stakeholder engagement were used.
• A comprehensive, patient-centered database was built.

Main Results:

• A centralized, self-report populating repository for Dup15q syndrome research was successfully established.
• Standardized data collection instruments were developed, enabling integration with other national databases like the National Database for Autism Research.
• Direct participant and family engagement facilitated efficient and complete data collection.

Conclusions:

• The developed repository enables efficient mining of shared clinical phenotypes across multiple sites.
• This resource serves as a foundation for future clinical and basic research in Dup15q syndrome.
• Standardized instruments can be applied to other developmental disorder studies.