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Glut1 Deficiency

Research Workshop Agenda

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Thursday, July 24th:

Morning:
10:00 AM - registration opens

Afternoon:
12:00 Noon - LUNCH

12:45-1:00 PM  welcome

  • Glenna Steele - GLUT1 Deficiency Foundation
  • Perry Family Story

1:00-1:20  opening remarks

1:20-3:00 PM  Lightning Talks

Disease and Patient Experience Insights:

  • Sandra Ojeda, PhD  Natural history insights  GLUT1 Deficiency Foundation | 1:20-1:30
  • Katie and Preston Staudt  Generations of GLUT1 Deficiency  family story | 1:30-1:40
  • Mackenzie Cervenka, MD  Movement disorders in adults with glucose transporter type 1 deficiency syndrome  Johns Hopkins | 1:40-1:50
  • Marisa Armeno, MD, PhD
    Advancing Glut1ds diagnosis and care in Argentina  |  Center for Metabolic Research (CINME, Buenos Aires) | 1:50-2:00
  • Matthew Gentry, PhD  Update on neurological glycogen storage diseases  University of Florida | 2:00-2:10
  • Mattia Bonzanni, PhD  Pharmacological inhibition of astrocytic GLUT1 reduces adenosine inhibitory action facilitating increased net synaptic transmission in the hippocampus  Weill Cornell Medicine | 2:10-2:20
  • Soumalya Chakraborty, MD  Do astrocytes haploinsufficient for Glut1 contribute significantly to Glut1 deficiency syndrome?   Columbia University Medical Center | 2:20-2:30

Research Tools and Technology:

  • Abraham Al-Ahmad, PhD  What did we learn about our GLUT1DS induced pluripotent stem cells when it comes to glucose metabolism at the blood-brain barrier?  Texas Tech | 2:30-2:40
  • Caroline Pearson, PhD  Determining the role of GLUT1 during human brain development  Weill Cornell Medicine | 2:40-2:50
  • Tamio Furuse, PhD  A tool for Glut1DS Research: A mutant mouse strain generated by random mutagenesis  RIKEN BioResource Research Center | 2:50-3:00

3:00-3:30 PM  BREAK

3:30-4:40 PM   Lightning Talks

Therapy Development:

  • Mariana Bollo, PhD  Targeting astrocytes to meet the energy demand in Glut1 Deficiency Syndrome  Instituto Ferreyra | 3:30-3:40 
  • Casey Vickstrom, MD, PhD  ASO development to upregulate GLUT1 as a potential therapeutic  Washington University St. Louis | 3:40-3:50 
  • Robin Williams, PhD  Investigating a new dietary approach for the treatment of Glut1DS  Royal Holloway University of London | 3:50-4:00
  • Hudson Freeze, PhD  Fucose-a possible therapy for GLUT1DS  Sanford Burnham Prebys | 4:00-4:10
  • Jong Rho, MD  Mitochondrial impairment and rescue: A scientific and therapeutic paradigm for GLUT1-DS  Yale School of Medicine | 4:10-4:20
  • Timothy Ryan, PhD  A therapeutic opportunity to suppress the consequences of glucose deficiency in the brain  Weill Cornell Medicine | 4:20-4:30
  • Umrao Monani, PhD  Glut1 augmentation to treat Glut1 deficiency syndrome  Columbia University Medical Center | 4:30-4:40

4:40-5:00 PM  summaries and wrap up

Evening:  Dinner at Fraunces Tavern
5:30-6:00 PM  meet and greet
6:00-6:30 PM  welcome and overview
6:30-7:00 PM  dinner begins
7:00-8:30 PM  partner project presentations
8:30-9:00 PM  meet and greet

Welcome and Overview:

Disease and Patient Experience Insights:

  • Mackenzie Cervenka, MD  Movement disorders in adults with glucose transporter type 1 deficiency syndrome  Johns Hopkins | 7:00-7:07
  • Ivy Samuels, PhD  Retro- or pro-spective study of retinal dysfunction associated with Glut1 Deficiency Syndrome  Louis Stokes Cleveland VA Medical Center  | 7:08-7:15
  • Matthew Gentry, PhD  Update on neurological glycogen storage diseases  University of Florida | 7:16-7:23

Research Tools and Technology:

  • Abraham Al-Ahmad, PhD  Establishing a GLUT1DS in vitro platform for drug discovery and GLUT1 quantification  Texas Tech | 7:24-7:31
  • Caroline Pearson, PhD  Unlocking the Developing Brain: A Window into GLUT1 Deficiency Syndrome  Weill Cornell Medicine | 7:32-7:39
  • Adrian Matysek, MsC  Precision glucose delivery: An in vivo tool for cell-specific metabolic control   Charles University - The Royal Vinohrady Hospital | 7:40-7:47

Therapy Development:

  • Hudson Freeze, PhD  Fucose-a potential therapy for GLUT1DS  Sanford Burnham Prebys | 7:48-7:55
  • Robin Williams, PhD  Validating a new dietary approach for the treatment of Glut1DS  Royal Holloway University of London | 7:56-8:03
  • Mariana Bollo, PhD  Targeting astrocyte energetics as a therapy for Glut1 Deficiency Syndrome  Instituto Ferreyra | 8:04-8:11
  • Casey Vickstrom, MD, PhD  ASO development to upregulate GLUT1 as a novel treatment  Washington University St. Louis | 8:12-8:19
  • Jong Rho, MD  Mitochondrial impairment and rescue: A scientific and therapeutic paradigm for GLUT1-DS  Yale School of Medicine | 8:20-8:27

Friday, July 25th:

 Morning:
9:00-9:30 AM  breakfast

9:30-10:00 AM welcome, overview of day

Lightning Talks

  • Rodrigo Starosta MD, PhD  Fucose clinical trials  Oregon Health and Science University
  • Deborah Rafferty, PhD  Does treatment with Diazoxide elevate the plasma glucose levels in persons with GLUT1 Deficiency Syndrome?  Cook Children's Medical Center

10:00-10:20 AM Juan Pascual, MD, PhD  Pascual Lab updates  Weill Cornell Medicine

  • Juan Pascual, MD, PhD: overview of new research in G1D
  • Gauri Kathote (via video): C7 study results
  • Vikram Jakkamsetti, MD, PhD: new speech research
  • Qian Ma, PhD: ongoing fucose research
  • Jacob Awkal, PharmD: isolated brain research
  • Juan Pascual, MD, PhD: a framework for unified laboratory and clinical research

10:20-10:25 AM break and transition to workshops

10:25 AM-12:10 PM workshop #1  (see below)

12:10-12:30 PM  workshop reports

Afternoon:
12:30-1:30 PM  LUNCH

1:30-2:00 PM  clinical trial readiness

2:00-2:30 PM  building centers of excellence

2:30-2:35 PM break and transition to workshops

2:35-4:20 PM  workshop #2  (see below)

4:20-4:40 PM  workshop reports

4:40-5:00 PM  next steps, closing

workshop #1:

Research Group:

  • models and tools
    similarities, differences, what tools and models are missing, increasing accessibility and collaboration
  • protocols
    questions, challenges, standardization
  • platform development

Clinical Group:

  • next consensus guidelines
    gaps, expansion, suggestions
  • clinical natural history study
    planning, core data elements, burdens and support
  • basic registry elements
    core data elements, census
  • severity scale
    clinical practice and potential outcome measure

workshop #2:

Research Group:

  • compass review
    what expertise, specialities, and fields are missing, best next steps, gaps in foundational science
  • NIH meeting plan
    cross-disease, cross-institute with focus on GLUT1
  • biomarkers

Clinical Group:

  • centers of excellence/multidisciplinary care centers
    essential components, selection criteria
  • patient-centered clinical trial readiness
    endpoints, outcome measures, biomarkers