TY - JOUR
T1 - Development of an International Database for a Rare Genetic Disorder
T2 - The MECP2 Duplication Database (MDBase)
AU - Ta, Daniel
AU - Downs, Jenny
AU - Baynam, Gareth
AU - Wilson, Andrew
AU - Richmond, Peter
AU - Schmidt, Aron
AU - Decker, Amelia
AU - Leonard, Helen
N1 - Funding Information:
H.L. was funded by NHMRC Senior Research Fellowship (APP1117105).
Funding Information:
Comparisons may be made between the MDBase and some of the few international registries other than InterRett and ICDD that collect clinical data on rare disorders associated with intellectual disability. Two such databases include the Global Prader–Willi Syndrome (PWS) Registry launched in 2015 and the Global Angelman Syndrome (AS) Registry launched in 2016 [,]. With an estimated prevalence of 1/10,000 to 1/30,000 for PWS [], the Global PWS Registry recruited 1696 participants in the first four years of its operation with implementation of a research protocol of registry architecture and security, governance, questionnaire development, community engagement and data curation similar to ours []. Similarly, the research goal of the Global PWS Registry was to collect health-related data to better characterise and study the natural history of this disorder []. Research output stemming from the Global PWS Registry on issues such as weight problems, caregiver burden, suicidality, neuropsychiatric features, thrombosis risk and strabismus in PWS has been published, in the form of either retrospective studies from clinical and patient data collected via surveys (the largest of which featured data from 908 individuals) or prospective, observational studies recruiting individuals from the registry [,,,,,]. Such research output has been supported by funding from the Foundation for Prader–Willi Research []. Similar to the MDBase, the recruitment for the PWS Registry involves the use of social media, newsletters, collaboration with advocacy groups, advertising at family conferences and informational webinars []. Similar challenges faced by the PWS Registry utilising this research method include the limitations of parent/caregiver-reported data, incomplete survey/s, difficulties for families to answer questions for individuals with a complex medical history and engagement of older parents who may be less comfortable with web-based data collection []. The MDBase platform allows for clinical notes and records to be uploaded or emailed to researchers to supplement the parent/caregiver-reported information.
Publisher Copyright:
© 2022 by the authors.
PY - 2022/7/25
Y1 - 2022/7/25
N2 - 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.
AB - 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.
KW - epilepsy
KW - intellectual disability
KW - MECP2 duplication syndrome
KW - rare neurodevelopmental disorder
KW - recurrent respiratory infections
UR - http://www.scopus.com/inward/record.url?scp=85137325983&partnerID=8YFLogxK
U2 - 10.3390/children9081111
DO - 10.3390/children9081111
M3 - Article
C2 - 35892614
AN - SCOPUS:85137325983
SN - 2227-9067
VL - 9
JO - Children
JF - Children
IS - 8
M1 - 1111
ER -