Pre-Congress Events and Side Meetings
You can find an overview of the pre-congress events and side meetings below.
| Monday 2 September 2019 | |
|---|---|
| Pre-Congress Events & side meetings |
|
| 9:00-11:00 Van Weelde Zaal | MetabERN meeting (MetabERN members only) |
| 11:00-13:00 Van Weelde Zaal | MetabERN: LSD subnetwork meeting (MetabERN members only) |
| 11:00-13:00 Van Rijckevorsel Zaal | MetabERN: AOA subnetwork meeting (MetabERN members only) |
| 12:00-19:00 Plate Zaal | iNTD network meeting (iNTD members only) |
| 13:30-15:30 Hudig Zaal | EHOD steering committee meeting (EHOD steering committee members only) |
| 16:00-18:00 Van Weelde Zaal | EHOD members meeting (EHOD members only) |
| 16:00-18:00 Schadee Zaal | SSIEM Council meeting (SSIEM council members only) |
| 18:00-22:00 Hudig Zaal | ERNDIM Board of Trustees Meeting (ERNDIM Board members only) |
| Tuesday 3 September 2019 | |
|---|---|
| Pre-Congress Events & side events | |
| 9:00-11:00 de Leeuw Kamer | U-IMD meeting (U-IMD members only) |
| 9:30-12:30 Zeelenberg Zaal | GalNet Satelite Symposium (GalNet members only) |
| 9:00-10:30 Willem Burger Zaal | Nutrition and Dietetics session |
| 9:00-9:30 | The use of body composition as a clinical tool in IEM Maureen Evans (Royal Children's Hospital, Melbourne, Australia) |
| 9:30-10:00 | GSD - New treatments; KD/High protein v traditional treatment Helen Mundy and Jo Gribben (Evelina Children's Hospital, London, United Kingdom) |
| 10:00-10:30 | Ketogenic diet in Inborn Errors of Metabolism: experience from one center and introduction of Ketogenic PN guideline Marit Verhagen and Elles van der Louw (Erasmus MC-Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands) |
| 10:30-11:00 | Coffee Break |
| 11:00-12:30 Willem Burger Zaal | Nutrition and Dietetics session (continued) |
| 11:00-11:30 | Citrin Deficiency; recent developments Alex Pinto (Birmingham Children's Hospital, Birmingham, United Kingdom) |
| 11:30-12:00 | 10 year follow up of PKU: implications of dietary therapy on weight management/ metabolic syndrome. Julio César Rocha (Centro Hospitalar Universitário do Porto, Portugal) |
| 12:00-12:30 | Evaluation of UX007 in patients with severe LC-FAOD Professor Vockley (Children's Hospital of Pittsburgh, USA) |
| 11:00-13:30 de Leeuw Kamer | Newborn Screening (NBS) Advisory Board meeting (members only) |
| 9:00-10:30 Juriaanse zaal | Adult morning session: Lifestyle in adults with IMD |
| 9:00-9:30 | Exercise in adults with IMD Mark Tarnopolsky (Ontario, Canada) |
| 9:30-10:00 | Diet, overweight and obesity Sandra Sirrs (Vancouver, Canada) |
| 10:00-10:30 | Independence, parenting, non-adherence and psychosocial issues Fanny Mochel (Paris, France) |
| 10:30-11:00 | Coffee Break |
| 11:00-12:00 Juriaanse zaal | Adult morning session (continued) |
| 11:00-11:12 | Adherence to dietary treatment and psychological outcomes in adults with early-treated Phenylketonuria Lynne Aitkenhead (London, United Kingdom) |
| 11:12-11:24 | Diffusion Kurtosis Characterisation of White Matter Abnormalities in Phenylketonuria: A Study of Divergent Siblings, with a Subsequent Analysis in 22 Adults Michel Tchan (Westmead, Australia) |
| 11:24-11:36 | Coping, Health Perception And Pain Are Related To Depressive Symptoms In Fabry Disease Simon Körver (Amsterdam, the Netherlands) |
| 11:36-11:48 | Acute neurological decompensation in adults with Tyrosinemia type 1 – an emerging issue? Elaine Murphy (London, United Kingdom) |
| 11:48-12:00 | Follow-up of five, non-MELAS phenotype, adult patients with m.3243A>G mutation after kidney transplantation and a review of the literature Mirian C.H. Janssen (Nijmegen, the Netherlands) |
| 9:00-10:30 | ERNDIM DPT MEETINGS |
| 9:00-10:30 Van Beuningen Zaal | ERNDIM DPT Czech Republic meeting (DPT participants only) |
| 9:00-10:30 Van de Vorm Zaal | ERNDIM DPT France meeting (DPT participants only) |
| 9:00-10:30 Van Rijckevorsel Zaal | ERNDIM DPT Switzerland meeting (DPT participants only) |
| 9:00-10:30 Ruys Zaal | ERNDIM DPT United Kingdom meeting (DPT participants only) |
| 9:00-10:30 Plate Zaal | ERNDIM DPT The Netherlands meeting (DPT participants only) |
| 9:00-10:30 Mees & Van Weelde Zaal | LEFB participants’ meeting (LEFB participants only) |
| 11:00-12:30 Van Weelde Zaal | ERNDIM Meeting (open to all SSIEM conference attendees) |
| 11:00-11:15 | Chair’s update George Ruijter (the Netherlands) |
| 11:15-11:30 | Common DPT sample: A woman with an unusual kidney stone composition Alessio Cremonesi (Switzerland) |
| 11:30-12:00 | Cognitive Amino Acids pilot scheme Mary Anne Preece (United Kingdom ) |
| 12:00-12:30 | Defects of BCAA metabolism: clinical manifestations and biomarkers M. Ángeles García Cazorla (Spain) |
| 12:30-14:00 | Lunch Break |
| 10:00-12:00 Hudig Zaal | ETAC Meeting (ETAC members only) |
| 12:45-13:45 Ruys Zaal | Adult Group Board Meeting (Adult Group Board members only) |
| 12:45-14:00 Hudig Zaal | SSIEM Dietitians Group Committee meeting (SSIEM DG-members only) |
| 18:45-19:15 Jurriaanse Zaal | Meet the JIMD Editors l Educational Event |
| Wednesday 4 September 2019 | |
|---|---|
| PRE-CONGRESS EVENTS & SIDE MEETINGS | |
| 7:45-8:45 Keuris / Schatkamer | ICIEM Organising Committee (IOC) meeting |
| 10:30-12:30 Van Capelle Zaal | SSIEM Dietitian Group members meeting |
| 12:30-13:30 Grote Zaal | SSIEM Advisory & Council members meeting |
| 13:30-14:30 Grote Zaal | SSIEM Annual General Assembly |
| 13:00-14:30 Van Capelle Zaal | Nurses symposium |
| Thursday 5 September 2019 | |
|---|---|
| PRE-CONGRESS EVENTS & SIDE MEETINGS | |
| 7:30-9:30 Zeelenberg Zaal | MMA/PA Guideline Update Group meeting |
| 10:30-12:30 Zeelenberg Zaal | JIMD Communicating Editors meeting |
| Friday 6 September 2019 | |
|---|---|
| PRE-CONGRESS EVENTS & SIDE MEETINGS | |
| 13:30-15:20 Willem Burger Foyer | Registration / welcome coffee |
| 15:30-16:00 Van Weelde Zaal | Introduction session |
| 15:30-15:45 Van Weelde Zaal | Cerebral creatine deficiency syndromes and diagnosis G. SalomonsandA. Thijs |
| 15:45-16:00 Van Weelde Zaal | Patients perspectives Xtraordinaireand ACD |
| 16:00-19:30 Van Weelde Zaal | Session 1: Signs and Symptoms of Cerebral Creatine Deficiency Syndromes |
| 16:00-16:45 Van Weelde Zaal | Observational Study / Databases / Prevalence: Vigilan: Observational Study of Male CTD Patients. Judith Miller Databases and family perspectives Extraordinaire,ACD Prevalence in France & Netherlands Aurore Curie |
| 16:45-17:30 Van Weelde Zaal | The Basics of Behaviour: On cognition, development and functioning. S. Huisman |
| 17:30-17:50 Van Weelde Zaal | Break |
| 17:50-18:15 Van Weelde Zaal | Importance of early diagnosis: feasibility of newborn screening for GAMT deficiency. M. Pasquali |
| 18:15-18:40 Van Weelde Zaal | AGAT – the therapeutical target for GAMT deficiency A. Schulze |
| 18:40-19:05 Van Weelde Zaal | Brain magnetic resonance spectroscopy and creatine measurements. P. Powels |
| 19:05-19:30 Van Weelde Zaal | Q&As |
| 19:30-20:30 Van Weelde Zaal | Family gathering and discussion time |
| 20:30-23:59 Stadbrasserie, Kruisstraat | Dinner reception |
| Saturday 7 September 2019 | |
|---|---|
| PRE-CONGRESS EVENTS & SIDE MEETINGS | |
| 8:00-8:50 Willem Burger Foyer | coffee |
| 9:00-9:15 Van Weelde Zaal | Creatine Transporter Deficiency in females J. van de Kamp |
| 9:15-11:50 Van Weelde Zaal | Session 2: Animal Models for Cerebral Creatine Deficiency Syndromes J. van de kamp |
| 9:15-9:40 Van Weelde Zaal | Creatine deficiency mouse models (AGAT, GAMT) A. Heerschap |
| 9:40-10:15 Van Weelde Zaal | A new knock-in rat model of creatine transporter deficiency O. Braissant |
| 10:40-11:00 Van Weelde Zaal | Coffee Break |
| 11:00-11:25 Van Weelde Zaal | The sum of all parts? Effects of neurotransmitter-specific CRT knockouts on learning. M Skelton |
| 11:25-11:50 Van Weelde Zaal | CTD mouse model experiences and therapeutic options. T. de Grauw |
| 11:50-12:50 Stadbrasserie, Kruisstraat | Lunch |
| 13:00-14:00 Van Weelde Zaal | Session 3: Supplementation Treatment in Cerebral Creatine Deficiency and NBS M. Williams |
| 13:00-13:20 Van Weelde Zaal | Treatment outcomes of cerebral creatine deficiency syndromes. S. Andrews |
| 13:20-13:40 Van Weelde Zaal | Epilepsy in cerebral creatine deficiency syndromes. S. Andrews |
| 13:40-14:00 Van Weelde Zaal | Q&As |
| 14:00-18:00 Van Weelde Zaal | Session 4: Development of New Treatment in Creatine Transporter Deficiency O. Braissant |
| 14:00-14:20 Van Weelde Zaal | Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. V. des PortesandA. Currie |
| 14:20-14:40 Van Weelde Zaal | Clinical trials for rare disease: current pitfalls and new perspectives. V. des PortesandA. Currie |
| 14:40-15:05 Van Weelde Zaal | Novel Molecules for the therapy of Creatine Transporter Deficiency M. Balestrino |
| 15:05-15:30 Van Weelde Zaal | Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency A. Mabondzo |
| 15:30-15:55 Van Weelde Zaal | Rescue by 4-phenylbutyrate of several misfolded creatine transporter -1 variants linked to creatine transporter deficiency syndrome. S. Sucic |
| 15:55-16:30 Van Weelde Zaal | Panel discussion / Q&As |
| 16:30-17:30 Van Weelde Zaal | Families debriefing |
| 17:30-18:00 Van Weelde Zaal | Drinks |