Session 1:   Welcome and Keynote Speaker

15:30-16:30   Registration / Koepelkerk Conference Center

16:30-16:40   Welcome / Jerry Vockley

16:45-17:45    Keynote / Deborah M. MuoioResearch on Fat Metabolism, Carnitine and CRAT

17:45-18:15    Discussion

19:00-21:30   Networking Reception and Poster Presentations – Koepelkerk Conference Center

Session 2:  FAO Outside the Box

7:15-8:30      Registration

8:30-9:00     Grant HatchThe impact of HADHA on Cardiolipin Metabolism

9:00-9:30     Sebastian JessbergerMetabolic Control of Neural Stem Cell Activity in the Developing and Adult Brain

9:30-9:45     Eric S. GoetzmanThe lysine desuccinylase SIRT5 regulates hepatic metabolism of medium-chain fatty acids

9:45-10:00   Xue-Jun ZhaoEnhancement of VLCAD activity in VLCAD knockout mouse embryonic fibroblasts with novel mRNA technology 

10:00-10:30  Break

Session 3:  Novel Aspects of Fatty Metabolism

10:30-11:00  Michael BennettNovel Physiologic Roles for Acylcarnitines

11:00-11:30   Suzan KnottnerusMedium Chain Fatty Acid Chain Elongation and its relevance for FAO-Disorders

11:30-11:45   Signe MosegaardNovel genetic discoveries detected using whole exome sequencing and RNA transcriptomics in 14 patients diagnosed
                                                            with Multiple Acyl-CoA Dehydrogenation Deficiency (MADD)

11:45-12:00   Kathryn C. Chatfield Cardiolipin Side Chain Composition Controls Metabolic Switching and Regulates Oxidative Phosphorylation  

12:00-12:30   Panel Discussion

12:30-14:00   Lunch

Session 4:   New Clinical Insights in FAOD

14:00-14:30   Melanie GillinghamAssessing, Diagnosing and Treating Essential Fatty Acid Deficiency in FAODs

14:30-15:00   John Sullivan & Eileen SullivanLiving with an FAOD a Patient and Family Perspective

15:00-15:15   Jinay ShahImproved outcomes with triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders (LC-FAOD)
                                                 treated via an expanded access program (EAP)

15:15 -15:30   Alejandro Dorenbaum Development of a Patient-Reported Outcome Questionnaire for Patients with Fatty Acid Oxidation Disorders 

15:30-15:45   Break

Session 5:    Inflammation and FAOD

15:45-16:15     Peter McGuireInfection a Known Aggravating Factor and Possibly Life-Threatening Consequences for many Patients Affected
                                                        by Inborn FAO Disorders

16:15-16:45     Jean Bastin & Jerry VockleyControl of Regulation of FAO and Treatment of FAODs with PPAR Agonists

16:45 -17:00  Sacha Ferdinandusse A mutation creating an upstream translation initiation codon in SLC22A5 5’UTR is a frequent cause of primary
                                                                     carnitine deficiency

17:00 -17:15   Daniela Karall Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation
                                                                      of the mitochondrial fusion/fission machinery
 
17:15-17:45      Panel Discussion

19:00                Board Buses to Rotterdam / lite dinner provided on the bus

19:30                Buses Depart to Rotterdam

2019 INFORM Travel Grant Recipients

INFORM Speaking Presentations

The lysine desuccinylase SIRT5 regulates hepatic metabolism of medium-chain fatty acids
Eric S Goetzman*, Sivakama Bharathi, Yuxun Zhang, Xuejun Zhao, Kevin Peasley, Steven Dobrowolski, Sunder Sims-Lucas, and Satdarshan Monga

University of Pittsburgh, Pittsburgh, PA United States

Enhancement of VLCAD activity in VLCAD knockout mouse embryonic fibroblasts with novel mRNA technology
Xue-Jun Zhao1, Keaton Solo1, Huifan Shi1, Summar Siddiqui2, Christine DeAntonis2, Lisa Rice2, Paloma H Giangrande2, AI-Walid Mohsen 1,3* Paolo Martini2, Jerry Vockley 1,3

1Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA, USA, 2Moderna Therapeutics, Rare Diseases, 200 Technology Square, Cambridge, MA, USA, 3Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA
 

Novel genetic discoveries detected using whole exome sequencing and RNA transcriptomics in 14 patients diagnosed with Multiple Acyl-CoA Dehydrogenation Deficiency (MADD)
1.Signe Mosegaard, MSc

Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark

Co-authors:
2. Mirjana Gusic, Institute of Human Genetics, Helmholtz Zentrum München, Germany
3. Sarah Stenton, Institute of Human Genetics, Helmholtz Zentrum München, Germany
4. Simon Olpin, Department of Clinical Chemistry, Sheffield Children’s Hospital, Sheffield, UK
5. Helle Nygaard, Research Unit for Molecular Medicine, Aarhus University and Aarhus University
Hospital, Aarhus, Denmark.
6. Mark Sharrard, Department of Pediatrics, Sheffield Children’s Hospital, Sheffield, UK.
7. Stanley H. Korman, Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel
8. Jolanta Sykut-Cegielska, Department of Inborn Errors of Metabolism and Paediatrics, The Institute
of Mother and Child, Warsaw, Poland
9. Anibh Martin Das, Department of Pediatrics, Hannover Medical School, Hannover, Germany
10.Yusof Rahman, Centre for Inherited Metabolic Disorders, Guy’s & St Thomas’ Hospital NHS
Foundation Trust, London, UK
11. Skadi Beblo, University Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany
12. Eva Morava, Dept of Clin Genomics, Mayo Clinic, Rochester, Minnesota, USA
13. Leo A. J. Kluijtmans, Translational Metabolic Laboratory, Dept of Laboratory Medicine, Radboud
University Medical Center, Nijmegen, the Netherlands.
14. Niels Gregersen, Research Unit for Molecular Medicine, Aarhus University and Aarhus University
Hospital, Aarhus, Denmark.
15. Holger Prokisch, Institute of Human Genetics, Helmholtz Zentrum München, Germany
16. Rikke Olsen, Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark.

Cardiolipin Side Chain Composition Controls Metabolic Switching and Regulates Oxidative Phosphorylation
Genevieve C. Sparagna PhD1, Hailey L. Chapman1, Valerie L. Warkins1, Elisabeth K. Phillips BS1, Anastacia M. Garcia PhD2, Danielle Jeffrey BS1, Iñigo San-Millán PhD1, Carmen C. Sucharov PhD1, Shelley D. Miyamoto MD2, Brian L. Stauffer MD1,3, and Kathryn C. Chatfield MD, PhD2

1Department of Medicine/Division of Cardiology, University of Colorado School of Medicine, Aurora, Colorado
2Department of Pediatrics, University of Colorado School of Medicine, Children’s Hospital Colorado, Aurora, Colorado
3Division of Cardiology, Denver Health Medical Center, Denver, Colorado

Development of a Patient-Reported Outcome Questionnaire for Patients with Fatty Acid Oxidation Disorders
Authors: Susan D. Mathias, MPH 1, Niall O’Donnell, PhD 2, Wendy Newman, MPH 2, Alejandro Dorenbaum, MD 2

1 Health Outcomes Solutions, Winter Park, Florida, USA, 2 Reneo Pharmaceuticals, San Diego, California, USA

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery
Judith Hagenbuchner1, Sabine Scholl-Buergi2, Daniela Karall2 & Michael J. Ausserlechner2

1Department of Pediatrics II, Medical University Innsbruck, Innsbruck, Austria. 2Department of Pediatrics I, Medical University Innsbruck, Innsbruck, Austria

A mutation creating an upstream translation initiation codon in SLC22A5 5’UTR is a frequent cause of primary carnitine deficiency
Sacha Ferdinandusse, Heleen te Brinke, Jos P.N. Ruiter, Janet Haasjes, Wendy Oostheim, Henk van Lenthe, Lodewijk IJlst, Merel S. Ebberink, Ronald J.A. Wanders, Frédéric M. Vaz, Hans R. Waterham

Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands

Improved outcomes with triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders (LC-FAOD) treated via an expanded access program (EAP)
Jinay Shah, RPh, MS1; Camille Bedrosian, MD1; Javier San Martin, MD1; Deborah Marsden, MD1

1Ultragenyx Pharmaceutical Inc., Novato, CA, USA

Honorable Mentions

Fatty acid oxidation-respiratory chain proteins and their interactions are abnormal in end-stage cardiomyopathy
Yudong Wang, Ph.D.1, Johan Palmfeldt, 2, Neils Gregersen2, Alexander M. Makhov3, James F. Conway3, Areeg El-gharbawy1, and Jerry Vockley, M.D., Ph.D.1,4

1University of Pittsburgh School of Medicine, Department of Pediatrics, Pittsburgh, PA, United States, 2Aarhus University Hospital, Aarhus, Denmark, 3University of Pittsburgh School of Medicine, Department of Structural Biology, Pittsburgh, PA, United States, 4Children’s Hospital of Pittsburgh, Center for Rare Disease Therapy, Pittsburgh, PA, United States

Clinical and functional description of disease severity in multiple acyl-CoA dehydrogenase deficiency: a retrospective and laboratory cohort study
Willemijn J. van Rijta*, Bsc, Sacha Ferdinandusseb*, PhD, Panagiotis Giannopoulosa, Bsc, Jos P. N. Ruiterb, Ing, Lonneke de Boerc, MD PhD, Annet M. Boschd, MD PhD, Hidde H. Huidekoper, MD PhDe, M. Estela Rubio-Gozalbof, MD PhD, Gepke Visserg, MD PhD, Monique Williamse, MD PhD, Ronald J.A. Wandersb, PhD and Terry G.J. Derksa, MD PhD *Willemijn J. van Rijt and Sacha Ferdinandusse should be considered joint first author

aDivision of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; bDepartment of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; cDepartment of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands; dDepartment of Pediatrics, Division of Metabolic Disorders, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; eDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, The Netherlands; fDepartment of Pediatrics and Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; gDepartment of Metabolic Diseases, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

Sex specific lipid perturbation in response to octanoate in very-long chain acyl-CoA dehydrogenase deficient (VLCAD-/-) mice

M.Sc. Khaled Alatibi, Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatric and Adolescent Medicine,
Medical Center-University of Freiburg, Germany

M.Sc. Zeinab Wehbe, Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatric and Adolescent Medicine,
Medical Center-University of Freiburg, Germany

Prof. Ute Spiekerkoetter, Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatric and Adolescent Medicine,
Medical Center-University of Freiburg, Germany

Dr. Sara Tucci, Laboratory of Clinical Biochemistry and Metabolism, Center for Pediatric and Adolescent Medicine,
Medical Center-University of Freiburg, Germany

Measurements of cellular metabolism in FAO using a routine blood sample
Rasmus Stenlid, Med. Stud.1,3,4, Peter Bergsten, M.D., Ph.D.3, Jing Cen, M.D., Ph.D.3, David Olsson, M.D.1,2, Anna Nordenström M.D., Ph.D.1,2
Maria Halldin, M.D. Ph.D.1,2

1. Department of women’s and children’s health, Karolinska Institutet, Solna, Sweden
2. Karolinska University Hospital Solna, Sweden
3. Department of medical cell biology, Uppsala University, Uppsala, Sweden

A comparative multi-omic study to characterize VLCAD patient response to triheptanoin vs. medium chain triglyceride management
Ahmad Alodaib1, 2, Areeg El-Gharbawy1, Yu Leng Phua1, Melanie Gillingham3, Jerry Vockley1, 4 and Steven F. Dobrowolski5

1Department of Pediatrics, Division of Medical Genetics, University of Pittsburgh School of Medicine, Children’s
Hospital of Pittsburgh, Pittsburgh, PA 15224, USA
2Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, 12713, Saudi Arabia
3Department of Molecular and Medical Genetics, Graduate Programs in Human Nutrition, Oregon Health & Science
University, Portland, OR 97239, USA
4Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15213,
USA
5Department of Pathology, Children’s Hospital of Pittsburgh, Pittsburgh, PA 15224, USA

Previous Agendas

2018 Agenda
2017 Agenda
2016 Agenda
2015 Agenda
2014 Agenda