SOCIETY FOR INHERITED METABOLIC DISORDERS


42nd Annual Meeting: April 26 - 29, 2020
Hilton Austin, Austin, Texas
Program for SIMD Annual Meeting You can download a copy of the program in PDF format here..
You can view the agenda for the Thursday morning GMDI session at http://gmdi.org/GMDI_Conference2020.
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SIMD 2020

April 26-29, 2020

Austin, Texas

Sunday, April 26, 2020

 

1:00 PM – 6:00 PM

1:00 PM – 6:00 PM

3:00 PM – 6:00 PM

3:00 PM – 6:00 PM

7:00 PM – 10:00 PM

Meeting Registration  - Austin Grand Ballroom, Salon H Foyer, 6th floor

Poster board and vendor set up - Austin Grand Ballroom, Salon F & H, 6th floor

SIMD Board meeting  - Rm. 619, 6th floor

NAMA Board meeting – Rm 617, 6th floor

Opening Reception – Austin Grand Ballroom Prefunction Area, 6th floor

Monday, April 27, 2020

 

7:00 AM - 8:00  AM

 

Breakfast  - Austin Grand Ballroom Salon G, 6th floor

New to SIMD, new to Rare Disease, or want to meet for breakfast? Join us at the tables labeled “New to SIMD”

7:30 AM – 5:00 PM

Meeting registration -Austin Grand Ballroom, Salon H Foyer, 6th floor

Scientific Session 1

(8:00 AM -10:00 AM)

Title: Immunology and inflammation in IEMs

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Peter McGuire, MS, MBBCh  and Amarilis Sanchez-Valle, MD

8:00 AM - 8:15 AM

Introduction and Welcome

Susan A. Berry, M.D., 2020 Program Chairman

University of Minnesota, Minneapolis, MN

8:15 AM - 8:45 AM

Immune tolerance induction may optimize enzyme replacement therapy for slowly progressive LSD’s in the face of anti-drug antibodies: a preponderance of evidence evaluation

Amy Rosenberg, MD

U.S. Food and Drug Administration, Silver Spring, MD

8:45 AM - 9:15 AM

Evaluation and treatment of immune deficiency in IEM

Susan E. Pacheco, MD

The University of Texas Health Sciences Center, Houston, TX

9:15 AM -9:45 AM

Immune aspects of metabolic decompensation due to infection

Peter J. McGuire, MD

National Human Genome Research Institute/National Institutes of Health

Bethesda, MD

9:45 AM- 10:15 AM

The mitochondrion as an immune organelle

A. Phillip West, PhD

Texas A&M University College of Medicine, Bryan, TX

10:15 AM-11:00 AM

AM Coffee Break-Posters and Exhibits open

Austin Grand Ballroom, Salon F & H, 6th floor

Scientific Session 2

(11:00 PM - 12:00 PM)

Title: Presidential address: What you can do to get it covered!

Austin Grand Ballroom Salon J-K, 6th floor

Moderator: Shawn E. McCandless. M.D.

11:00 AM - 11:30PM

Healthcare Utilization: Evidence based peer reviews and the world of payer appeals

David M. Spiro, MD, MPH

Allmed Healthcare Management, Inc. , Portland, OR

11:30 AM - 12:00PM

Presidential Address:  SIMD and the Path to the Next Decade

Georgianne Arnold, MD

University of Pittsburgh, Pittsburgh, PA

12:00 PM -1:00 PM

Box Lunch -  Austin Grand Ballroom Salon G, 6th floor

Scientific Session 3

(1:00 PM - 3:00 PM)

Oral presentations from Travel Award winners, Shapira Award winner and

the JSIMD Young Investigator winner

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Carlos Ferreira, MD and Austin Larson , MD

1:00 PM - 1:15 PM

Clinical, biochemical and molecular phenotypes of mild (nonclassic) rhizomelic chondrodysplasia punctata

Wedad Fallatah, MD, MAS

McGill University, Montreal,Quebec, Canada

1:15 PM - 1:30 PM

Integrative multiomics approach to unravel disease causes and mechanisms of methylmalonic aciduria

Patrick Forny, MD, PhD

Division of Metabolism, University Children’s Hospital Zurich, Zurich, Switzerland

1:30 PM - 1:45 PM

Aberrant post-translational modifications characterize the hepatic proteome of methylmalonic acidemia

PamelaSara Head, PhD

Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, NHGRI, NIH, Bethesda, MD

1:45 PM - 2:00 PM

Inhibition of mitochondrial complex v causes carbonic anhydrase dysfunction: implications for novel diagnostic biomarkers

Kienan O’Dwyer, BS

Children’s Hospital of Philadelphia, Philadelphia, PA

2:00 PM - 2:15 PM

Newborn screening for X-linked adrenoleukodystrophy in Washington State: incidence and positive predictive value

Sheri A. Poskanzer, MD

University of Washington School of Medicine and Seattle Children’s Hospital, Seattle, WA

2:15 PM - 2:30 PM

Fenofibrate rapidly decreases hepatic lipid and glycogen storage in neonatal mice with GSD IA

Zollie Yavarow, BA

Duke University, Durham, NC

2:30 PM - 2:45 PM

Presentation from the 2019 Emmanuel Shapira Award Winner

Metabolic analysis reveals evidence for branched chain amino acid catabolism crosstalk and the potential for improved treatment of organic acidurias

Stephen McCalley, PhD

Reata Pharmaceuticals, Plano, TX

2:45 PM - 3:00 PM

JSIMD Young Investigator award winner for best presentation at 2019 JSIMD

Splice-switching ENA oligonucleotides corrected GSD1a-like symptoms in G6PC c.648G>T knock-in mice

Kentaro Ito, MS in Science and Engineering

Specialty Medicine Research Laboratories I, Daiichi Sankyo Co., Ltd., Tokyo, Japan

3:00 PM - 4:00 PM

PM Coffee break – Posters and Exhibits open

Austin Grand Ballroom, Salon F & H, 6th floor

Scientific Session 4

(4:00 PM - 5:30 PM)

Selected abstract presentations

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Amy White, MS, CGC and Rebecca Ganetzky, MD

4:00 PM - 4:15 PM

Mitochondrial energy deficit in PAH deficient PKU

Steven F. Dobrowolski, PhD

Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA

4:15 PM - 4:30 PM

A new global Slc7a7 knockout mouse model of lysinuric protein intolerance recapitulates the human disorder

Bridget M. Stroup, PhD, RDN

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

4:30 PM - 4 :45 PM

Effects of fasting, feeding and exercise on plasma acylcarnitines amongst subjects with CPT2D, VLCADD and LCHADD/MTPD 

Gabriela Elizondo, MD

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR

4:45 PM - 5 :00 PM

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex (PDC) deficiencies and other mitochondrial disorders associated with congenital lactic acidosis

Jirair Bedoyan, MD, PhD

Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH

5:00 PM - 5 :15 PM

Noninvasive biomarkers of liver disease in urea cycle disorders

Lindsay Burrage, MD, PhD

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

5:15 PM - 5 :30 PM

Carnitine-acylcarnitine translocase deficiency: Insights into treatment with report of eighteen cases

Bryony Ryder, MB, ChB

New Zealand National Metabolic Service, Starship Children’s Health, Auckland, New Zealand

5:30 PM - 7:00 PM

Optional dinner for purchase (ticket required)

Austin Grand Ballroom Salon G, 6th floor

otherwise dinner on own

Scientific Session 5

(7:00 PM- 10:00 PM)

Poster Session and Reception with Exhibits open 

Austin Grand Ballroom, Salon F & H, 6th floor

Beer, Wine and Dessert served

7:00 PM – 8:00 PM

 

Poster presentations from Travel Award Winners

5 min presentation at each poster from travel award winners (6 awards) attended by SIMD Founders Award Committee

7:00 PM – 7:10 PM

POSTER #1

Rare metabolic disorders of energy dysfunction in patients with treatment-resistant depression

Kaitlyn Bloom, PhD, FACMG

University of Pittsburgh, Pittsburgh, PA

7:10 PM – 7:20 PM

POSTER #2

Analysis of heparan sulfate and heparan sulfate non-reducing ends in severe and attenuated form of Mucopolysaccharidosis type I

Aneta Kaczmarczyk, PhD

University of Utah and ARUP Laboratories, Salt Lake City, UT

7:20 PM – 7:30 PM

POSTER #3

Untargeted metabolomic profiling improves the diagnosis of inborn errors of metabolism over traditional screening methods

Ning Liu, PhD, DABMGG

Baylor College of Medicine, Houston, TX

7:30 PM – 7:40 PM

POSTER #4

A new chromatographic separation method to distinguish between 2-hydroxyglutaric acid enantiomers based on chiral derivatization

Ester Perales Clemente, PhD

Mayo Clinic, Rochester, MN

7:40 PM – 7:50 PM

POSTER #5

Potential therapies for mitochondrial bioenergetics dysfunction in fibroblasts from a 2-hydroxyglutaric aciduria patient

Yu Leng Phua, PhD

University of Pittsburgh, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA

7:50 PM – 8:00 PM

POSTER #6

Modeling inherited methylmalonic acidemia, using induced pluripotent stem cell-derived hepatocytes

Behshad Pournasr, PhD

Medical University of South Carolina, Charleston, SC

8:00 PM – 8:15 PM

POSTER #7

Investigating beneficial effects of D-galactose in different CDG with tracer metabolomics techniques

Silvia Radenkovic, PhD Student

Metabolomics Expertise Center, Leuven, Belgium and Center of Individualized Medicine, Mayo Clinic, Rochester, MN

8:15 PM – 8:30 PM

Committee review

7:00 PM - 9:00 PM

Posters attended by Authors

7:00-8:00 Even numbered posters attended

8:00-9:00 Odd numbered posters attended

Tuesday, April 28, 2020

 

7:00 AM - 8:00 AM

Breakfast - Austin Grand Ballroom Salon G, 6th floor

Young Rare Disease Investigators Breakfast. Come and share YOUR experiences in rare disease research

7:30 AM - 1:00 PM

Meeting registration - Austin Grand Ballroom, Salon H Foyer, 6th floor

Scientific Session 6

(8:00 AM - 10:00 AM)

Title - Clinical trials: Planning for approval success and pitfalls to avoid

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Debra Regier, MD, PhD and Wendy Smith, MD

8:00 AM - 8:30 AM

Rare Disease Investigational New Drug Applications: Back to Basics

Dina J. Zand, MD

US Food and Drug Administration,  Silver Spring, MD

8:30 AM - 9:00 AM

Experience obtaining IND for citrulline use in MELAS

Fernando Scaglia, MD

Baylor College of Medicine, Houston, TX

9:00 AM - 9:30 AM

Overview of Biomarkers Qualification Program

Christopher Leptak, MD, PhD

US Food and Drug Administration,  Silver Spring, MD

9:30 AM - 10:00 AM

Development of psychosine as a biomarker for Krabbe disease

Dieter Matern, MD, PhD

Mayo Clinic College of Medicine, Rochester, MN

10:00 AM -11:00 AM

AM Coffee Break - Posters and Exhibits open

Austin Grand Ballroom, Salon F & H, 6th floor

Scientific Session 7

(11:00 AM - 12:30 PM)

Title –PCORI funding as a mechanism for research support in IEM

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Susan Berry, MD and Fernando Scaglia, MD

11:00 AM -11:30 AM

Developing new skills and innovative partnerships to compete for rare disease Research Funding from PCORI

Mathew J. Edick, PhD

Michigan Public Health Institute, Okemos, MI

11:30 AM -12:00 PM

Intervention and outcome in Duarte Galactosemia 

Judith Fridovich-Keil, PhD

Emory University School of Medicine, Atlanta, GA

12:00 PM - 12:30 PM

Comparative Effectiveness of therapy in rare diseases:Liver transplantation vs. conservative management of Urea Cycle Disorders

Nick Ah Mew, MD

Children’s National Medical Center, Washington, DC

12:30 PM -7:00 PM

Free afternoon - Lunch and dinner on your own

5:00 PM -7:00 PM

NAMA reception – Invitation ONLY – The Reverbery, 1st floor

7:00 PM - 8:00 PM

Unknowns and Challenging Metabolic Cases

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Hilary Vernon, MD, PhD and Francis Rossignol, MD

7:00 PM – 7:05 PM

Updates on old cases

7:05 PM – 8:00 PM

Six cases will be presented (4 slides each) with discussion to follow

8:00 PM - 9:30 PM

SIMD Award Presentations and Business Meeting

Emmanuel Shapira SIMD Award (First Author of Best Publication in MGM in 2019)

SIMD Founders Award (Best Oral Presentation by a Trainee)

Wednesday, April 29, 2020

 

7:00 AM -8:00 AM

Breakfast - Austin Grand Ballroom Salon G, 6th floor

SIMD interest groups:  Nursing, Metabolic Nutrition, Genetic Counseling, Laboratorian, Basic Research, Clinical Research, Clinician

7:30 AM – 5:30 PM

Meeting Registration - Austin Grand Ballroom, Salon H Foyer, 6th floor

Scientific Session 8

(8:00 AM - 10:00 AM)

Title: Selected Scientific Abstracts – Treatments are our future

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Charles Venditti, MD, PhD and Mandy Martin

8:00 AM - 8:15 AM

Trial of autologous human hematopoietic stem cells from mobilized peripheral blood stem cells modified by ex vivo transduction using a CTNS lentiviral vector in treatment of cystinosis

Bruce A. Barshop, MD, PhD

Department of Pediatric, Division of Genetics, University of California San Diego, La Jolla, CA

8:15 AM - 8:30 AM

The first viable mouse model of cblC deficiency displays growth failure and reduced survival which are rescued by hydroxocobalamin and AAV gene therapy

Jennifer L. Sloan, PhD

Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, NHGRI, NIH, Bethesda, MD

8:30 AM - 8:45 AM

Clinical and pharmacodynamic activity of Mitapivat, an activator of red cell pyruvate kinase in patients with Pyruvate Kinase Deficiency

Penelope A. Kosinski

Agios Pharmaceuticals, Inc, Cambridge, MA

8:45 AM - 9:00 AM

Development of AT-007 for the treatment of Galactosemia

Riccardo Perfetti, MD, PhD

Applied Therapeutics, New York, NY

9:00 AM - 9:15 AM

Development and characterization of leucine consuming synthetic bioticTM for the treatment of Maple Syrup Urine Disease

Mylene Perreault, PhD

Synlogic, Cambridge, MA

9:15 AM - 9:30 AM

The first clinical trial evaluating an enzyme therapy for patients with cystathionine beta-synthase deficient homocystinuria

Marcia Sellos-Moura, PhD

Orphan Technologies, Lexington, MA

9:30 AM - 9:45AM

Efficacy and safety of Arimoclomol in patients with Niemann Pick type C: results from a double-blind, randomized placebo-controlled trial with a novel treatment

Dr. Eugen Mengel

SphinCS GmbH, Hochheim, Hessen, Germany

9:45 AM - 10:00AM

Sustained clinical benefit in patients with long-chain fatty acid oxidation disorders (LC-FAOD) receiving long-term triheptanoin (UX007) and in patients triheptanoin treatment naïve: results from an open label, long-term, safety and efficacy extension study

Jerry Vockley, MD, PhD

University of Pittsburgh, Pittsburgh, PA

10:00 AM -10:30 AM

AM coffee break – Posters and Exhibits open

Austin Grand Ballroom, Salon F & H, 6th floor

Scientific Session 9

(10:30 AM - 12:40 PM)

Title: Homocystinurias

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Marzia Pasquali, PhD and Irini Manoli, MD, PhD

10:30 AM – 10:40 AM

Jan Kraus award presented to Eva Kraus by HCU Network America

10:40 AM - 11:10 AM

Classic HCU diagnosis and management

Harvey L. Levy, MD

Boston Children’s Hospital, Boston, MA

11:10 AM - 11:40 PM

Mouse models and new treatments for HCU

Warren Kruger, PhD

Fox Chase Cancer Center, Temple Health, Philadelphia, PA

11:40 PM - 12:10 PM

Elevated homocysteine without elevated methionine-the complexity of Remethylation Defects

David S. Rosenblatt, MD

McGill University Health Centre, Montreal, Quebec, Canada

12:10 AM - 12:40 PM

Newborn screening for Homocystinuria

Marzia Pasquali, PhD

ARUP Laboratories,  University of Utah, Salt Lake City, UT

12:40 PM -  1:30 PM

Lunch break on your own

Scientific Session 10

(1:30 PM - 5:30 PM)

Joint Session with GMDI – The Long and Winding Road

Austin Grand Ballroom Salon J-K, 6th floor

Moderators: Melanie Gillingham, PhD, RD and Jennifer Branov, RD

1:30 PM - 2:15 PM

Co-morbidities in adults with IEM

Kim Chapman, MD, PhD, Children’s National Medical Center, Washington, DC and Danielle Starin, MS, RD, LD, Children’s National Medical Center, Washington, DC

2:15 PM - 3:00PM

Setting the sail for a smooth transition into adulthood

Hanna Faghfoury, MDCM, FRCPC, FCCMG, University of Toronto, Toronto, Ontario Canada  and Heather Bell, RD, University Health Network, Toronto General Hospital, The Fred A. Litwin Family Centre in Genetic Medicine, Toronto, Ontario Canada

3:00 PM - 3:30 PM

Coffee break – Austin Grand Ballroom Foyer, 6th floor

3:30 PM - 4:45PM

GMDI/SERN Nutritional Management Guidelines:  How these are being used in practice

Panel Discussion introduced and moderated by Rani Singh, Ph.D., RD, LD,  Emory University, Decatur, GA and Fran Rohr, MS, RD, Boston Children’s Hospital, Boston, MA

Panelists:  Prof. Ute Spierkekotter, M.D.,  University Hospital Freiberg, Freiberg, Germany; Julia Wilmarth, RD CD, University of Utah, Salt Lake City, UT; Alana Tedesco, MS, RD, Nutricia North America, Cedar Knolls, NJ and Jill Chertow, President, Propionic Acidemia Foundation, Highland Park IL

4:45 PM - 5:30 PM

How SIMD and GMDI can work together to enhance the mission of each organization

Discussion introduced and moderated by Melanie Gillingham, PhD, RD,  Oregon Health & Science University, Portland, OR

 

Dinner on your own. No other events planned for this evening.