For the latest publications of this PI visit Agnies van Eeghen – Amsterdam UMC
Eeghen, A.M. van (Agnies) a.m.vaneeghen@amsterdamumc.nl
| Research line | PROs and PROMs for rare diseases |
|---|---|
| Department | Intellectual Disability Medicine / arts VG |
| Research Institute(s) | Amsterdam Reproduction and Development Amsterdam Public Health |
| Description | Development of relevant and personalized outcome measures for children and adults with rare genetic neurodevelopmental disorders such as Tuberous Sclerosis Complex and Fragile X syndrome. Current focus is on development op core outcome sets, PROMs and goal attainment scaling. |
| Seniors | • Prof Lotte Haverman, PhD • Maud van Muilekom, PhD, UD • Ellen Elsman, PhD, UD |
| Projects | |
| PROM4RARE | PhD candidateNadia van Silfhout focuses on development of generic PROMs for this patient population and validation for specific (syndromal) subgroups |
| GAS4RARE | PhD candidate Alannah Hijlkema focuses on validation of goal attainment scaling for this patient population |
| COS4TSC | PhD candidate Floortje Hosman is part of an international collaboration focusing on development and validation of a core outcome set for Tuberous Sclerosis Complex |
| Research line | Trials for complex behavioral manifestations of genetic neurodevelopmental disorders |
|---|---|
| Department | Intellectual Disability Medicine / arts VG |
| Research Institute(s) | Amsterdam Reproduction and Development Amsterdam Public Health |
| Description | Establishing the effectiveness of various interventions on neuropsychiatric manifestations of cannabis oil on psychiatric and behavioral manifestations of genetic neurodevelopmental disorders including Down Syndrome, Tuberous Sclerosis Complex, Fragile X Syndrome and Sanfilippo disease. |
| Seniors | • Anja Lok, MD, PhD • Marion Brands, MD, PhD • Ellen Elsman, PhD • Prof. M. Brouwers • Prof. Arne Popma |
| Projects | |
| PI of EPICOM | A multicenter CBD trial initiated and sponsored by Jazz pharmaceuticals |
| CBD4RARE | PhD candidates Floortje Hosman and Kim van Veldhuizen collaborate to an N-of-1 trial with CBD for TSC, FXS and Sanfilippo |
| TEAM Down | A prospective, observational study on effectiveness of SSRIs, lorazepam, and immunotherapy for depression and regression in Down Syndrome |
| TEAM Down | Understanding bio-psycho-social factors associated with the course of depressive and regressive symptoms in Down syndrome |
| Research line | Dementia in rare genetic neurodevelopmental disorders |
|---|---|
| Department | Intellectual Disability Medicine / arts VG |
| Research Institute(s) | Amsterdam Reproduction and Development Amsterdam Public Health |
| Description | Investigating dementia and blood biomarkers for neurodegeneration, in Fragile X Syndrome, Tuberous Sclerosis Complex, Dravet Syndrome, as well as heterogeneous populations with ID and epilepsy. |
| Seniors | • Prof. Charlotte Teunissen • Inge Verkerk, PhD • Floor Duits, MD, PhD • Prof. Clara van Karnebeek • Sylvia Huisman, MD, PhD |
| Projects | |
| Project IDEA | PhD candidate Hadassa Kwetsie investigates dementia and blood biomarkers in various genetic syndromes and a large patient population with ID and epilepsy. Also researching experiences and attitudes on postmortem investigations in (genetic) ID |
| PI of Biomarkers4TSC | An international collaboration exploring blood biomarkers for neurodegeneration in Tuberous Sclerosis Complex |
| Research line | Guidelines for ERN ITHACA |
|---|---|
| Department | Intellectual Disability Medicine / arts VG |
| Research Institute(s) | Amsterdam Reproduction and Development Amsterdam Public Health |
| Description | Chairing and supervising the development of European guidelines for rare genetic neurodevelopmental disorders and associated comorbidity, and optimizing methodology. |
| Seniors | • Charlotte Gaasterland, PhD • Prof. Martina Cornel |
| Projects | |
| Optimizing methodology for guidelines for rare genetic neurodevelopmental disorders | By PhD student Mirthe Klein-Haneveld |
| Development of guidelines for rare genetic neurodevelopmental disorders | With various international working groups |
Last edited: 05-03-2026