VIRTUAL SYMPOSIUM DAY

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Programme

Please note that all starting times indicated are London time!

London Time	September 17th 2021
11.00	Start of the SSIEM Virtual Symposium Day
11.00	lndustry Sponsored Symposium - supported by Amicus Therapeutics Managing the whole patient: early and multisystemic treatment in Fabry disease
11.30	Break
11.45	lndustry Sponsored Symposium - supported by Recordati Rare Diseases Long-Term Management Optimisation of patients with propionic and methylmalonic acidurias
12.15	Break
Meeting Hosts	Angela Garcia-Cazorla (Barcelona, Spain) Fanny Mochel (Paris, France)
12.30	Introduction from the SSIEM President Gajja Salomons (Amsterdam, The Netherlands)
12.40	Novel biomarkers in IMD
	Biomarkers in mitochondrial disease Rita Horvath (Cambridge, UK)
	Flash communication: mitochondrial DNA quantification in the cerebrospinal fluid Abraham Paredes (Barcelona, Spain)
	Lipid biomarkers and neurodegenerative diseases Foudil Lamari (Paris, France)
	Flash communication: C26:0-lysophosphatidylcholine for the diagnosis of peroxisomal disorders Yorrick Jaspers (Amsterdam, The Netherlands)
	Q&A
14.00	Break
14.10	Adult Group Session – How would you treat these patients? Session on clinical dilemmas. Chair: Mirjam Langeveld (Amsterdam, The Netherlands)
	Debate on treatment options in PKU Elaine Murphy (London, UK) and Mirjam Langeveld (Amsterdam, The Netherlands)
	Debate on treatment options in Fabry disease Derralynn Hughes (London, UK) and Carla Hollak (Amsterdam, The Netherlands)
15.15	Break
15.25	Novel therapeutic approaches
	IMD liver transplantation – Rome experience Carlo Dionisi-Vici (Rome, Italy)
	IMD liver transplantation – USA experience Jerry Vockley (Pittsburgh, USA)
	Q&A
	Update on pyridoxal phosphate supplementation in Pyridoxal Kinase deficiency Viorica Chelban (London, UK)
	Leriglitazone Multicentric experience to treat X-linked Adrenoleukodystrophy Fanny Mochel (Paris, France)
	Q&A
16.40	Break
16.50	Dietary Group Session – New diet therapies, new challenges and the future
	Introduction Marjorie Dixon (London, UK)
	Pyridoxine dependent epilepsy – first revision of the PDE Consortium Dietary guidelines and results from the international diet survey Annemiek van Wegberg (Nijmegen, The Netherlands)
	Long-term nutritional experience with triheptanoin in Austrian patients with long-chain fatty acid oxidation disorders Monika Jörg Streller (Innsbruck, Austria)
	Q&A
17.55	Break
18.05	Komrower 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)
18.55	Concluding remarks from the SSIEM President Gajja Salomons (Amsterdam, The Netherlands)
19.00	Break
19.15	lndustry Sponsored Symposium - supported by PTC Therapeutics Rare disorders of monoamine metabolism: a focus on AADC deficiency

VIRTUAL SYMPOSIUM DAY

Programme

SSIEM Virtual Symposium Organizer

SSIEM Virtual Symposium Secretariat