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

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.

Citation:
Ta D, Downs J, Baynam G, Wilson A, Richmond P, Schmidt A, Decker A, Leonard H. Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase). Child. 2022;9(8)

Keywords:
Epilepsy; intellectual disability; MECP2 duplication syndrome; rare neurodevelopmental disorder; recurrent respiratory infections

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.