Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

Abstract

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. This clinical information can be systematically collected from caregivers through data collation efforts—yet, no such database has existed for MDS before now. Here, in this methodological study, we document the development, launch and management of the international MECP2 Duplication Database (MDBase). The MDBase consists of an extensive family questionnaire that collects information on general medical history, system-specific health problems, medication and hospitalisation records, developmental milestones and function, and quality of life (for individuals with MDS, and their caregivers). Launched in 2020, in its first two years of operation the MDBase has collected clinical data from 154 individuals from 26 countries—the largest sample size to date. The success of this methodology for the establishment and operation of the MDBase may provide insight and aid in the development of databases for other rare neurodevelopmental disorders.

How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome

“…Participant selection aimed for maximal variation to document different experiences across children's ages and the management of epilepsy, respiratory, and/or gastrointestinal problems. Participants were recruited from the international MECP2 Duplication Database (MDBase) [42]. Parent caregivers were invited by telephone to participate in the study.…”