virual · 2020. 11. 30. · 6 ssiem virtual symposium day 2020 18.00-19.00 19.00-19.50 19.50-20.00...

1SSIEM Virtual Symposium Day 2020 www.ssiemvirtual.org

December

03

VIRTUALSYMPOSIUMDAY

2 SSIEM Virtual Symposium Day 2020

For registration and more information please visit:

ssiemvirtual.org

SSIEM Virtual Symposium Organizer Society for the Study of Inborn Errors of Metabolism (SSIEM)

RegisteredOffice: 130-132 Tooley Street London SE1 2TU

[email protected]

SSIEM Virtual Symposium Secretariat S12! studio12 gmbh

Kaiser-Josef-Straße 9 6020Innsbruck AUSTRIA

[email protected] studio12.co.at

3SSIEM Virtual Symposium Day 2020

Welcome

Dear SSIEM Members, Colleagues and Friends,

WelcometothefirstSSIEM2020VirtualSymposiumDay,December3,2020!Thisisanadven-turetoallofusafterhavingpracticedmorethanhalfacenturyof‘live’SSIEMannualmee-tings.

TheevolvingSARS-CoV-2(COVID-19)pandemichasnotonlychangedtheworldtremendous-ly,butalsoforcedustomakethedifficultdecisiontopostponeour53rdAnnualMeetingto2022inFreiburg.Insteadforthecurrentyear,SSIEMcouncilmembersandtheeditorsofourjournals(JournalofInheritedMetabolicDiseaseandJIMDReports)organisedachallengingonedayonlinesymposium,towhichwewelcomeyouallverymuch.Inaddition,weorganisedourfirstonlineannualgeneralmeetingtobeheldinconjunctionat7pm,GMTtowhichallSSIEMmembersareinvited.

Theaimsofthissymposiumdayaretobringtogetherourglobalcommunity,tofosterthestudyofinheritedmetabolicdisorders,andtoshowcaseresearchindifferentmetabolicdisci-plinesfromallovertheworld.

Wehaveputtogetheranexcitingscientificprogrammeforouronlinesymposiumday,inclu-dinginvitedlectures,andtheKomrowerandGarrodlectures.Inthelatebreakingnewssec-tion,fourselectedabstractswillbepresentedasoralpresentations.Therecordedlectureswillremainavailablefor3months.

Finally,wewouldliketoencourageattendingtheICIEM2021inSydneyaswellastoannoun-cetheupcomingSSIEMAnnualSymposiainFreiburg(2022),Jerusalem(2023)andPorto(2024).

Pleaseparticipate/join,enjoyandprofitfromthevirtualday,andstayhealthy!

Thankyouverymuchforjoiningus“digitally“.

Withourbestwishes,

OnbehalfoftheOrganisationTeam,

Gajja Salomons, Chair of SSIEM

Eva Morava, Editor in Chief JIMD / JIMD Reports


SSIEM Virtual Symposium Day 2020December 03, 2020

All indicated times are based on Greenwich Mean Time (GMT, London).

12.00

12.00-12.30

12.30-12.45

12.45-13.15

13.15-13.30

13.30-13.35

13.35-14.30

13.35

14.00

14.25

14.30-15.00

14.30

14.35

15.00-15.15

Start of the SSIEM Virtual Symposium Day

lndustry Sponsored Symposia (p. 8)

Break


Break

Introduction from the SSIEM PresidentGajja Salomons (Amsterdam, The Netherlands)

Adult Group SessionChair:David Cassiman (Leuven, Belgium)

EducationalprogrammeforAdultMetabolicMedicineSandra Sirrs (Vancouver, Canada), Annalisa Secchi (Udine, Italy)

UpdateoncomplexlipiddisordersFanny Mochel (Paris, France)

Q&A

Archibald Garrod Award Lecture

IntroductionEva Morava (Rochester, United States)

ArchibaldGarrodAwardLectureClinical,radiological,andgeneticcharacteristicsinpatientswithACO2genedefects:anemergingneurometabolicsyndromeRonen Spiegel (Afula, Israel)

Break

5SSIEM Virtual Symposium Day 2020

15.15-17.00

16.45

17.00-17.15

17.15-18.00

Invited lecturesChair: Ute Spiekerkötter (Freiburg, Germany)

MetaboliccutislaxaandTheGolgiBjörn Fischer (Berlin, Germany)

TheInternationalClassificationoflnheritedMetabolicDisorders,ICIMDCarlos Ferreira (Bethesda, United States)Shamima Rahman (London, United Kingdom)Johannes Zschocke (Innsbruck, Austria)

NewsfromtheFDA:OrphandrugdevelopmentPatroula Smpokou (Maryland, United States)

InvivogenetherapyforMetabolicDiseases:stateoftheartandfutureperspectivesNicola Brunetti Pierri (Naples, ltaly)

Developingtherapyforultra-rareinheritedmetabolicdisease:lessonsfromNiemann-PickdiseasetypeCMarc Patterson (Rochester, United States)

Q&A

Break

Komrower LectureIntroduction:Gajja Salomons (Amsterdam, The Netherlands)

Elucidatingthecausesofmetabolicdisorders: thenewveinstoexploreEmile van Schaftingen (Leuven, Belgium)


18.00-19.00

19.00-19.50

19.50-20.00

20.00-20.30

Late breaking newsChair: Manuel Schiff (Paris, France)

Anautosomaldominantneurologicaldisordercausedbydenovovari-antsinFAR1resultinginuncontrolledsynthesisofetherlipidsSacha Ferdinandusse (Amsterdam, The Netherlands) Anovelbrainandheartdevelopmentalsyndromecausedbyimpair-mentofthemitochondrialone-carbonmetabolismenzymeSHMT2Aurora Pujol (Barcelona, Spain) AnewneurologicaldiseaseduetoPGM2L1deficiencyleadstodefec-tiveproductionofglucose-1,6-bisphosphate,butnottoaglycosylationdefectMaria Veiga-da-Cunha (Brussels, Belgium) GFUS-CDG,anewglycosylationdisordertreatablewithL-fucoseSaskia Wortmann (Salzburg, Austria) Q&A

SSIEM Annual General Meeting (all SSIEM Members invited but RSVP)

A message from the ICIEM 2021Closing remarks


Nutricia Metabolics Campus

https://metabolics.nutricia-campus.com/

Our new virtual home

Visit Nutricia Metabolics Campus to find downloadable educational contentincluding podcasts and round table discussions.

Even when we are miles apart, our commitment to support you with tools and educational content knows no distance. That is why we are excited to welcome you to the Nutricia Metabolics Virtual Campus.

Our campus is an interactive experience, bringing together a range of educational content, patient resources and networking opportunities.

An exclusive printed copy of the updated 5th edition ofZschocke/Homann’s Vademecum Metabolicum providing asystematic and practical approach to the diagnosis and treatmentof metabolic disease using promotional code: SSIEM2020*

Webinar: The Power of Personalized Education -Improving Adherence to Diet and Patient Outcomes in IEMs

*Limited copies available, 1 per person

Register today

Request your Copy

https://us02web.zoom.us/webinar/register/WN_x439bhLZQoi8mvu-VTtd0ghttps://metabolics.nutricia-campus.com/


SSIEM Virtual Symposium Day 2020Industry Sponsored Symposia

All indicated times are based on Greenwich Mean Time (GMT, London).

12.00-12.30sponsoredby:


Sponsored Satellite Symposium 1: Glycomacropeptide (GMP) and Bone HealthChair: Peter Freisinger (Reutlingen, Germany)

Speaker: Anne Daly (Birmingham, United Kingdom)

Sponsored Satellite Symposium 2: Long-Chain Fatty Acid Oxidation Disorders: Evolving Best Practices

WelcomeandIntroductionJerry Vockley (Pittsburgh, United States)

LC-FAODs:IsGuideline-BasedManagementEnough?Jerry Vockley (Pittsburgh, United States)Barbara K. Burton (Chicago, United States)Ute Spiekerkötter (Freiburg, Germany)

WhatWillEmergingTreatmentsMeanforLC-FAODManagement?Jerry Vockley (Pittsburgh, United States)Barbara K. Burton (Chicago, United States)Ute Spiekerkötter (Freiburg, Germany)

ConcludingRemarksJerry Vockley (Pittsburgh, United States)

Patientswithlong-chainfattyacidoxidationdisorders(LC-FAODs)oftenexperiencesignificantmetaboliceventsleadingtoemergencyroomvisits,hospitalizationsandevenmortality,alldespitefollowingguideline-baseddietaryinterventions.Duringthisinteractiveround-tablediscussion,expertfacultywilldiscussthischallenge,howtheyaddressit,aswellashowthetreatmentlandscapeforLC-FAODsisevolvingtoenablebetteroutcomesforpatients.

AMedscapeLIVEsymposiumsupportedbyaneducationalgrantfromUltragenyx.

PKU sphere™ is Vitaflo’s first GMP-based protein substitute, specifically designed to optimise adherence. PKU sphere is:

The only GMP-based protein substitute to be evaluated long term in children and teenagers1.

Suitable from 4 years of age.

Available in three flavours – Vanilla, Red Berry and Chocolate.

Available in two pack sizes – 15g and 20g PE pre-measured sachets.

Low in volume and designed to support an overall healthy dietary intake by avoiding excess calories and sugar.

Join us for our symposium…

on GMP and Bone Health at 12–12:30pm (GMT).

Presented by guest speaker Anne Daly, Metabolic Dietitian,

Birmingham Children’s Hospital, UK and chaired by Prof. Dr. Freisinger, Head of the paediatrics department and the metabolic centre,

Klinikum Reutlingen, Germany.

Visit our virtual stand…

to find out more about PKU sphere and our

comprehensive range of products for Inborn Errors

of Metabolism.

28mg Phe

15g PE 120 ml

91 kcals 1.7g* sugar

sphere

36mg Phe

20g PE 140 ml

120 kcals 2.2g* sugar

sphere

PKU (Phenylketonuria), GMP (Glycomacropeptide), PE (Protein Equivalent), Phe (Phenylalanine). PKU sphere™ is a food for special medical purposes and must be used under medical supervision. For the dietary management of PKU. Refer to product labels for allergen and other important information.*PKU sphere chocolate contains 2.8g/ 20g PE and 2.2g/ 15g PE. 1 Reference available upon request.

A Nestle Health Science Company ®Reg. Trademark of Société des Produits Nestlé S.A.

W www.vitafloweb.com E [email protected]

Vitaflo

is proud to be

a sponsor of th

is

SSIEM Virtual

Symposium D

ay

on Thursday 3

rd

December.



12.30-12.45

12.45-13.15 sponsoredby:



Sponsored Satellite Symposium 3One year of treatment experience with PALYNZIQ® (pegvaliase) in Europe WelcomeAnia C. Muntau (Hamburg, Germany) OneyearoftreatmentexperiencewithPALYNZIQinEuropeAnia C. Muntau (Hamburg, Germany)

LiveQ&AFaculty & audience

Break

Sponsored Satellite Symposium 4: Re-defining management of alkaptonuria: Transforming the outlook for patients with the iconic Mendelian disease - a tribute to Archibald Garrod

DevelopAKUre:Disease-modifyingpharmacologicaltreatmentofAKUwithnitisinone–resultsfromaninternational,randomisedcontrolledPhase3study(SONIA2)Lakshminarayan Ranganath (Liverpool, United Kingdom)

AKUfromthepatients’perspective–ImpactofAKUsymptomsasper-ceivedbythepatientsNicolas Sireau (Cambridge, United Kingdom)

Sponsored Satellite Symposium 5: Shortening the Journey to Fabry Disease Diagnosis: Perspectives from a Patient and Nephrologist

David G. Warnock (Birmingham, United States) Paul R.FabryPatient(UnitedStates)

Sponsored Satellite Symposium 6: Optimizing IEM Care During a Pandemic: A Case-Based Look at UCD Management

Acase-basedprogramthatreviewskeyaspectsofureacycledisorders(UCD)andillustratesreal-worldchallengesandstrategiesforsuccessfulmanagementofinbornerrorsofmetabolismduringthepandemic.

Speaker:Gregory Enns (Stanford - Palo Alto, United States) Lucile Salter (Palo Alto, United States)

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Sponsored Satellite Symposium 7: Distinguishing Pediatric Movement Disorders - Uncovering AADC Deficiency

WelcomeandintroductionsSunay Ozdas

DistinguishingAADCdeficiency:ClinicalexperiencewithdifferentialdiagnosisBerrin Monteleone

CurrentmanagementstrategiesandemergingtherapiesforAADCdeficiencyWuh-Liang Hwu

Q&ApaneldiscussionSunay OzdasBerrin Monteleone

Symposium Objectives:- ReviewpediatricdisordersthatmayclinicallyresembleAADC deficiency- ShareclinicalexperiencewithdifferentialdiagnosisofAADC deficiency- Discusscurrentmanagementoptionsandtreatmentsin developmentforAADCdeficiency

Sponsored Satellite Symposium 8: Fabry phenotypes: GLA variants in the real world

Welcome&introductionJörn Schenk (Zurich, Switzerland)

WhatcanGLAvariantstellusandwhatcan’tthey?Gheona Altarescu (Jerusalem, Israel)

WorkingwithphenotypicvariabilityDerralynn Hughes (London, United Kingdom)

LiveQ&A

3-OMD TESTING FOR AADC DEFICIENCY

Aromatic-L-amino acid decarboxylase (AADC) deficiency is an inborn error of neurotransmitter biosynthesis

It is an autosomal recessive disorder caused by pathogenic variants in the dopa decarboxylase gene, DDC, encoding for the AADC enzyme

In patients with AADC deficiency, lack of AADC enzyme leads to accumulation of its substrate L-DOPA

What is AADC deficiency?1 What is 3-OMD?2

3-O-methyldopa (3-OMD) is a more stable, catabolic product of L-DOPA

Accumulation of L-DOPA leads to increased concentrations of 3-OMD through conversion by catechol-O-methyltransferase

3-OMD is detectable and stable in blood

How does 3-OMD screening help in the diagnosis of AADC deficiency?1-5

3-OMD can be used as an initial screen when AADC deficiency is suspected

Elevated levels of 3-OMD in the blood should prompt further testing to confirm the diagnosis of AADC deficiency

Dried blood spot testing for 3-OMD is an option for screening individuals at high risk for AADC deficiency and a potential option for newborn screening2,5

This test may help to bridge the delay (typically months to years) in the diagnosis of the disease1,5

3-OMD levels in blood

Clinical suspicion of AADC deficiency Confirm with diagnostic tests1

DDC full gene sequencing

Plasma AADC enzyme activity

CSF neurotransmitter metabolites

To diagnose AADC deficiency,

genetic testing should be performed and

2 of the 3 core diagnostic tests should

be positive1

Elevated levels of 3-OMD can be detected in blood

screen for

Partnership with

©2020 PTC Therapeutics. All rights reserved.MED-ALL-AADC-2000831 | November 2020.

PTC has partnered with CENTOGENE to offer 3-OMD testing via dried blood spot for initial screening of patients in whom AADC deficiency is clinically suspected and/or in at-risk patient populations4

For additional information, contact [email protected]

Abbreviations: L-DOPA, L 3,4 dihydroxyphenylalanine; CSF, cerebrospinal fluid; DDC, dopa decarboxylase; 3-OMD, 3-O-methyldopa.

References: 1. Wassenberg T, et al. Orphanet J Rare Dis. 2017;12(1):12. doi:10.1186/s13023-016-0522-z; 2. Chen PW, et al. Clin Chim Acta. 2014;431:19–22; 3. Brennenstuhl H, et al. J Inherit Metab Dis. 2019;doi:10.1002/jimd.12208; 4. Hyland K, Reott M. Pediatr Neurol. 2020;106:38–42; 5. Chien YH, et al. Mol Genet Metab. 2016;118(4):259–263.

CENTOGENE THE RARE DISEASE COMPANY is a registered trademark of CENTOGENE AG.

This advert is developed by PTC Therapeutics and is intended for healthcare professionals.

Screening for elevated 3-OMD in the blood of patients with suspected AADC deficiency may aid in early diagnosis5



Sponsored Satellite Symposium 9:Long-Term Management of Organic Acidemia Patients With CAR-BAGLU®: The PROTECT Trial Overview & Interim Analysis.Chair: Johannes Häberle (Zurich, Switzerland) Introduction&Unmetneedsinthelong-termmanagementoforganicaciduriasJohannes Häberle (Zurich, Switzerland) PROTECTTrial-Overview&enrolmentstatusSufin Yap (Sheffield, United Kingdom) PROTECTTrial-InterimanalysisresultsSufin Yap (Sheffield, United Kingdom) Opendiscussion&Q&A

but if we could find a way to alter the genes the body might start to heal itself

We don’t accept that the way things are is the way

they need to be. If we can use gene therapy to recode

the very building blocks of life, we should be able to

recode everything about healthcare: the science, the

system, even the status quo. We’re working to help

create a world where lives can be lived more fully.

© 2020 bluebird bio, Inc. All rights reserved. NP-GBL-0165 11/2020

W

Jerry Vockley, MD, PhD Cleveland Family Endowed Chair in Pediatric Research Professor of Human Genetics University of Pittsburgh Chief of Medical Genetics Director of the Center for Rare Disease Therapy UPMC Children’s Hospital of Pittsburgh Pittsburgh, Pennsylvania United States

Ute Spiekerkötter, MD Professor of Pediatric Metabolic Diseases Medical Director University Children’s Hospital Freiburg, Germany

Barbara K. Burton, MD Professor of Pediatrics Northwestern University Feinberg School of Medicine Clinical Practice Director Genetics and Metabolism Ann & Robert H. Lurie Children’s Hospital of Chicago Chicago, Illinois United States

Supported by an independent educational grant from

AGENDAIntroductionJerry Vockley, MD, PhD

LC-FAODs: Is Guideline-Based Management Enough? Jerry Vockley, MD, PhD, Barbara K. Burton, MD Ute Spiekerkötter, MD

What Will Emerging Treatments Mean for LC-FAOD Management?Jerry Vockley, MD, PhD, Barbara K. Burton, MDUte Spiekerkötter, MD

Concluding RemarksJerry Vockley, MD, PhD

TARGET AUDIENCEThis activity is intended for an international audience of non-US metabolic geneticists, genetic counsellors, metabolic dieticians, endocrinologists, and pediatricians.

LEARNING OBJECTIVESUpon completion of this activity, participants will:

Have increased knowledge regarding the• Morbidity associated with LC-FAODs despite

guideline-based management • Role of emerging therapies for LC-FAODs

Have greater competence related to• Identifying patients who may benefit

from emerging therapies for LC-FAODs

Long-Chain Fatty Acid Oxidation DisordersEvolving Best Practices

CHAIR

THURSDAY, 3 DECEMBER 2020 | 12:00 – 12:30 gmt

PANELISTS

Join us on December 8, 2020 for a 24-hour, live Newborn Screening Virtual Summit, a global event featuring sessions from over 40 international thought leaders on the latest trends and advances in Newborn Screening.

This is a free event open to anyone interested in Newborn Screening.

Topics being discussed include:

n Newborn Screening workflow n New Disorders n Panel Expansion n Duchenne Muscular Dystrophy

December 8, 2020

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NEWBORN SCREENINGVIRTUAL SUMMIT 2020

Learn. Share. Develop.

CLICK HERE TO REGISTER
https://ve.on24.com/vshow/PerkinElmer/registration/18549

virual · 2020. 11. 30. · 6 ssiem virtual symposium day 2020 18.00-19.00 19.00-19.50 19.50-20.00...

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