​​​​Sunday September 3, 2017
Session 1: Welcome and Keynote Speaker  
15:30-16:30 …. Registration

16:30-16:40 …. Welcome and Overview to INFORM 2017 
                          Jerry Vockley, Pittsburgh PA, USA

16:40-16:45 …. Keynote Speaker Introduction
16:45-17:45 …. Keynote, The Impact of NBS of FAODs
Nicola Longo, Salt Lake City, Utah, USA
17:45-18:15 …. Discussion

19:00-21:30 …. Networking Reception and Opening Dinner

Monday Morning September 4, 2017
Session 2:   Basic Science 
7:30-8:30 ........ Registration / Breakfast

8:30 -9:00 ....... Myotubes from CPT2 Deficient Patients as a Disease Model
Fatima Djouadi, Paris, France

9:00 -9:30 ....... Free Fatty Acid Receptors and the Gut Microbiome:
                Questions in Relation to FAO Defects
Niels Gregerson, Aarhus Denmark

9:30 -9:45 .......  Endoplasmic reticulum-mitochondria crosstalk and redox homeostasis
                 disruption in very long-chain acyl-CoA dehydrogenase deficient

                 Bianca Seminotti, UFRGS, Brazil
9:45 -10:00 ...... Development and characterization of patient-specific iPSC-derived                        retinal pigmentary epithelia (RPE)-like cells as a model
                 of LCHAD-associated retinopathy 
Tiffany DeVine, Portland, Oregon

​10:00 -10:30 ... Break

10:30 -11:00 ... NAD+ Therapy Improves Cardiac Function and Bioenergetics in a Mouse
                Model of Heart Failure​

Matt Hirschey, Duke University,USA

11:00 -11:30 ... Lessons Learned from Animal Models of VLCAD Deficiency

​                Ute Spiekerkoeter, Freiburg, Germany
11:30 -11:45 … VLCAD deficiency related chronic inflammation pattern is suggestive
                of systemic mediators
Megan Beck, Memphis, Tennessee, USA

11:45 -12:00 …  Experimental evidence that fatty acids accumulating in VLCAD
                 deficiency disrupt mitochondrial respiration in heart, liver and brain
​                  of young rats
Cristiane Cecatto, Porto Alegre, RS, Brazil

12:00 -12:30 … Panel Discussion

12:30-14:00 …. Lunch

Monday Afternoon September 4, 2017
Session 3:      Clinical Session 
14:00 -14:30 … Nutritional Ketosis 

​                 Kieran Clarke, Oxford, UK
14:30 -15:00 ... Nutritional Ketosis Ketone Body Treatment in FAODs
                 Gepke Visser, Utrecht/Amsterdam, Netherlands

15:00 -15:15 … 3-hydroxybutyrate (3-HB) treatment in multiple acyl-CoA dehydrogenase                  deficiency: A systematic literature review and international retrospective
                 cohort study
Willemijn J. van Rijt, Groningen, the Netherlands

15:15-15:30 ….  Results from a 78-week Single-arm, Open-label Phase 2 Study to Evaluate
                 UX007 in Pediatric and Adult Patients with Moderate to Severe
                 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
Jerry Vockley, Pittsburgh PA, USA

15:30 -15:45 ….Break

15:45 -16:15 … An Overview of FAODs and Unmet Needs in Latin America
Ida Schwartz, Porto Alegre, Brazil

16:15 -16:30 … Health-related Quality of Life in Patients with long-chain Fatty Acid
                Oxidation Disorders
Suzan JG Knottnerus, Amsterdam, The Netherlands

16:30 -16:45 … Intravenous Sources of Medium Chain Triglycerides for Critically
                Ill Patients with Fatty Acid Oxidation Disorders
​Heather Bausell,Chicago, IL, USA
16:45 -17:15 … Panel Discussion

17:15 -17:30 … Summary / Closing remarks

17:30 -18:45 … Cocktail Reception & Poster Session with Oral Presentations

                 for Jr.Investigators interested in presenting

19:00 ............... INFORM Advisory Committee Meeting

​INFORM 2017 Agenda

​INFORM Agendas past/present 

Learning objectives
After attending the conference, participants will be able to:

Identify disorders of the carnitine cycle and of fatty acid oxidation. Be familiar with biochemical and molecular technology used to confirm the diagnosis of fatty acid oxidation disorders Identify markers that enable pre-symptomatic diagnosis by newborn screening
of fatty acid oxidation disorders Understand controversies in the management of disorders
​of the carnitine cycle and of fatty acid oxidation.

Target audience

Researchers, pediatricians, internists and specialists in inherited metabolic diseases, nurses, dietitians and nutritionists, genetic counselors, scientists, INFORM members, and all other healthcare professional involved in diagnosing or managing disorders of the carnitine cycle and of fatty acid oxidation.

Children’s Hospital of Pittsburgh/UPMC - Medical Genetics - One Children's Hospital Drive
Faculty Pavilion 1st Floor - 4401 Penn Avenue - Pittsburgh, PA 15224
​Office:  412.692.5099  

 Keith McIntire -  Coordinator, INFORM - keith.mcintire@chp.edu

INFORM will be presenting a symposia at ICIEM
on Thursday September 7, 2017

Chair: Mike Bennett (Philadelphia, PA, USA) / Co-Chair: Eric Goetzman (Pittsburgh, PA, USA)

Anti-oxidant therapy as an adjunct for treatment
​of long chain fatty acid oxidation disorders 

Guilhian Leipnitz ,Brazil

Novel mechanisms of pathogenesis in mitochondrial trifunctional protein deficiency:
implications for clinical outcome and treatment 

Areeg El-Gharbawy, USA 

Rhabdomyolysis and inflammation in metabolic muscle disease
Yamina Hamel, France 

Agendas Past and Present

International Network for Fatty Acid Oxidation Research and Management

INFORM 2017: Carnitine and Fatty Acid Oxidation Disorders
Aim of the Conference

Disorders of fatty acid oxidation and of the carnitine cycle are an important cause of morbidity and mortality. With the introduction of expanded newborn screening, many of these conditions can be diagnosed and treated at birth, preventing several of the complications. Treatment of these conditions may include fasting-avoidance, diets low in fat containing specific fatty acids, and carnitine supplements. New types of therapies, nutritional and pharmacological, are being tested in humans and animal models of these conditions. Unfortunately, treatment is only partially effective for some conditions and we still do not understand completely the pathophysiology of end-organ damage caused by these inherited disorders.

The objective of the conference is to make the audience familiar with recent advances in the diagnosis and treatment of disorder of fatty acid oxidation and of the carnitine cycle.
The conference will discuss the proper diagnostic interpretation of laboratory testing, development of new therapeutic strategies, and on the role of newborn screening
​in preventing complications. It will also serve as the annual meeting of INFORM.