Pre-Congress Events and Side Meetings

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
9:00-9:30The use of body composition as a clinical tool in IEM
Maureen Evans (Royal Children's Hospital, Melbourne, Australia)
9:30-10:00GSD - New treatments; KD/High protein v traditional treatment
Helen Mundy and Jo Gribben (Evelina Children's Hospital, London, United Kingdom)
10:00-10:30Ketogenic 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)
11:00-11:30Citrin Deficiency; recent developments
Alex Pinto (Birmingham Children's Hospital, Birmingham, United Kingdom)
11:30-12:0010 year follow up of PKU: implications of dietary therapy on weight management/ metabolic syndrome.
Julio César Rocha (Centro Hospitalar Universitário do Porto, Portugal)
12:00-12:30Evaluation 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
9:00-9:30Exercise in adults with IMD
Mark Tarnopolsky (Ontario, Canada)
9:30-10:00Diet, overweight and obesity
Sandra Sirrs (Vancouver, Canada)
10:00-10:30Independence, 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)
11:00-11:12Adherence to dietary treatment and psychological outcomes in adults with early-treated Phenylketonuria
Lynne Aitkenhead (London, United Kingdom)
11:12-11:24Diffusion Kurtosis Characterisation of White Matter Abnormalities in Phenylketonuria: A Study of Divergent Siblings, with a Subsequent Analysis in 22 Adults
Michel Tchan (Westmead, Australia)
11:24-11:36Coping, Health Perception And Pain Are Related To Depressive Symptoms In Fabry Disease
Simon Körver (Amsterdam, the Netherlands)
11:36-11:48Acute neurological decompensation in adults with Tyrosinemia type 1 – an emerging issue?
Elaine Murphy (London, United Kingdom)
11:48-12:00Follow-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)
9:00-10:30ERNDIM 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)
11:00-11:15Chair’s update
George Ruijter (the Netherlands)
11:15-11:30Common DPT sample: A woman with an unusual kidney stone composition
Alessio Cremonesi (Switzerland)
11:30-12:00Cognitive Amino Acids pilot scheme
Mary Anne Preece (United Kingdom )
12:00-12:30Defects of BCAA metabolism: clinical manifestations and biomarkers
M. Ángeles García Cazorla (Spain)
12:30-14:00Lunch 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