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Principal investigator: Sylvia Huisman, MD

Research Institution: Amsterdam University Medical Center

Research Study Title: The Natural History of Adults with Malan Syndrome

Status: Active until May 8, 2023

Who can participate? Caregivers to individuals, 18 years and older, with a genetic diagnosis of Malan syndrome (NFIX gene variant) are encouraged to participate. 

In collaboration with the Malan Syndrome Foundation, Amsterdam University Medical Centers (Amsterdam UMC) is conducting a research study in which we collect information about health, behavior, daily functioning, needs and clinical management of adult individuals (18 years and older) with Malan syndrome (MALNS).

This information is crucial for understanding the natural history of MALNS: the full spectrum of symptoms and how the disorder affects individuals over time. Furthermore, this information helps to answer questions of individuals with MALNS and their families and to develop management guidelines for optimal care.

If you are interested in participating or need additional information, please contact the research coordinator for this study, Nhi Huynh at

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