Time (GMT)September 17th 2021
11.00-11.30 lndustry Sponsored Symposia
11.30-11.45 Break
11.45-12.15lndustry Sponsored Symposia
12.30 Start of the SSIEM Virtual Symposium Day
12.30-12.35Introduction from the SSIEM President
Gajja Salomons (Amsterdam, The Netherlands)
12.35 – 13.40Novel biomarkers in IMD
12.35-12.55 Mitochondrial screening biomarkers
Rita Horvath (Cambridge, UK)
12.55-13.00 Mitochondrial DNA quantification in the cerebrospinal fluid
Abraham Paredes (Barcelona, Spain)
13.00-13.20Lipid biomarkers and neurodegenerative diseases
Foudil Lamari (Paris, France)
13.20-13.25 C26:0-lysophosphatidylcholine for the diagnosis of peroxisomal disorders
Yorrick Jaspers (Amsterdam, The Netherlands)
13.25 – 13.40Q&A
13.40 - 13.50Break
13.50 - 14.50 Adult Group Session – How would you treat these patients?
Chair: Mirjam Langeveld, Amsterdam (The Netherlands)
13.50-14.20Debate on treatment options in PKU
14.20-14.50Debate on treatment options in Fabry disease
14.50 - 15.00 Break
15.00 – 16.05Novel therapeutic approaches
15.00 – 15.15IMD liver transplantation – Rome experience
Carlo Dionisi-Vici (Rome, Italy)
15.15 – 15.25IMD liver transplantation – USA experience
Jerry Vockley (Pittsburgh, USA)
15.25 – 15.35Q&A
15.35 – 15.45Update on pyridoxal phosphate supplementation in Pyridoxal Kinase deficiency
Viorica Chelban (London, UK)
15.45 – 15.55Leriglitazone Multicentric experience to treat X-linked Adrenoleukodystrophy
Fanny Mochel (Paris, France)
15.55 – 16.05Q&A
16.05 - 16.15Break
16.15 - 17.15Dietary Group Session – New diet therapies, new challenges and the future
Marjorie Dixon (London, UK)
16.20-16.40Pyridoxine dependent epilepsy – first revision of the PDE Consortium Dietary guidelines and results from the international diet survey
Annemiek van Wegberg (Nijmegen, The Netherlands)
16.40-17.00Long-term nutritional experience with triheptanoin in Austrian patients with long-chain fatty acid oxidation disorders
Monika Jörg Streller (Innsbruck, Austria)
17.00 – 17.15Q&A
17.15 - 17.25 Break
17.25 – 18.10Komrower Lecture - The identification of new rare metabolic diseases: an example of the tremendous impact on Estonia’s detection rate by new technologies
Katrin Ounap (Tartu, Estonia)
18.10 – 18.15Concluding remarks from the SSIEM President
Gajja Salomons (Amsterdam, The Netherlands)
18.15 - 18.30 Break
18.30-19.00lndustry Sponsored Symposia