Empower & Inspire:

Understanding and Accelerating Research for Leigh Syndrome

 

 

Thank you to the 228 participants from 34 countries who joined us virtually on

Tuesday, September 20, 2022

 

 

 

 

Brought to you by:

Cure Mito Foundation

&

integrative Cardiovascular Metabolism and Pathophysiology Laboratory (iCaMP) at Boston University

AGENDA

Eastern Standard Time (EST)

Central European Time (CET)

 Title

 Speaker 

 Description

9:00 - 9:15 AM

3:00 - 3:15 PM

 Introduction

 Kasey Woleben

 Cure Mito Co-founder

9:15 - 10:00 AM

3:15 - 4:00 PM

Keynote: ​Advances in Leigh Syndrome Research: Sterling Past, Golden Future

Vamsi Mootha, MD

Professor, Harvard Medical School

Professor, Massachusetts General Hospital

Investigator, Howard Hughes Medical Institute

Member, Broad Institute of MIT and Harvard

 

In this talk Dr. Mootha will review past and recent progress in our understanding of the genetic and biochemical basis of Leigh syndrome. He will also discuss unique features of Leigh syndrome, combined with broader advances in the field of biomedicine that portend a brighter future for patients. 

Followed by 10 min Q&A

Kasey Woleben to moderate Q&A with Dr. Mootha

10:00 - 10:25  AM

4:00 - 4:25 PM

Leigh Syndrome 101

Saima Kayani, MD

Child Neurologist, UT Southwestern Medical Center

Cure Mito Scientific & Medical Advisory Board Member

Dr. Kayani will give an overview of clinical, biochemical and neuro imaging findings, clinical diagnosis, and genetic etiologies of Leigh Syndrome

 

Followed by 10 min Q&A

RESEARCH
 

Moderator: Ethan Perlstein, PhD

CEO, Perlara PBC

Eastern Standard Time (EST)

Central European Time (CET)

 Title

 Speaker 

 Description

10:25 - 10:40 AM

4:25 - 4:40 PM

General Overview of Nervous System Targeted Gene Therapy

Steven Gray, PhD

Associate Professor, University of Texas Southwestern Medical Center 

Cure Mito Scientific & Medical Advisory Board Member

In this talk Dr. Gray will briefly review the current state-of-the-art for using AAV vectors to target the nervous system.  This will focus mainly on the utility and limitations of AAV9, which is being used in at least 17 ongoing gene therapy clinical trials targeting the nervous system.

10:40 - 10:55 AM

4:40 - 4:55 PM

Mitochondrial Genome Engineering in-Vivo

Michal Minczuk, PhD

Group Leader, University of Cambridge

Co-founder, Pretzel Therapeutics

Latest advances in the genetic modification of mammalian mtDNA will be presented including [1] the selective elimination of mutant mtDNA in living organisms, and [2] the installation of new mutations in mouse models.

10:55 - 11:10 AM

4:55 - 5:10 PM

Gaining Insights into Mitochondrial Diseases Using Stem Cells

Jessica L. Fetterman, PhD

Assistant Professor, Boston University School of Medicine

 

Dr. Fetterman will cover how we derive stem cells from a patient blood sample, how stem cells can be used to better understand what goes wrong in the cells of the body, and how we can use stem cells for therapeutic screening to create a tailored treatment approach for each patient.

11:10 - 11:25 AM

5:10 - 5:25 PM

Patient-derived stem cells and brain organoids for modeling and drug discovery of Leigh syndrome

Alessandro Prigione, MD, PhD

Professor, University of Düsseldorf, Germany

Cure Mito Scientific & Medical Advisory Board Member

Dr. Prigione will present ongoing efforts in using patient-derived and genetically modified stem cells to generate neuronal models and brain organoids to dissect the mechanisms of Leigh syndrome and possibly identify new treatment strategies.

11:25 - 11:40 PM

5:25 - 5:40 PM

Immune-mediated disease pathogenesis in Leigh syndrome

Simon Johnson, PhD

Assistant Professor, University of Washington

PI, Seattle Children’s Research Institute

Cure Mito Scientific & Medical Advisory Board Member

Dr. Johnson will discuss recently published and ongoing work which demonstrate that Leigh syndrome is an immune-mediated disease.

11:40 - 11:55 AM

5:40 - 5:55 PM

Applying a precision medicine drug discovery platform to SURF1 Leigh Syndrome

Joe Bellucci, PhD 

Director, Scientific Partnerships, Rarebase

Dr. Joe Bellucci will introduce the Rarebase research platform, which leverages cutting-edge technology and biology to discover and develop treatments for the millions of people worldwide living with a rare disease.

11:55 AM - 12:10 PM

5:55 - 6:10 PM

Q&A with the speakers
Moderated by Ethan Perlstein, PhD

12:10 AM - 12:40 PM

6:10 - 6:40 PM

BREAK
 

UNDERSTANDING DRUG DEVELOPMENT

Moderator: Kevin Freiert, MBA

Principal, Salem Oaks Consulting

Cure Mito Patient Registry advisor

Eastern Standard Time (EST)

Central European Time (CET)

 Title

 Speaker 

 Description

12:40 - 12:55 PM

6:40 - 6:55 PM

Challenges in Drug Discovery for Mitochondrial Disorders

Anne Murphy, PhD

Vice President of Biology, Cytokinetics

Understanding of the hurdles for the development of treatments of mitochondria disorders can help shape future strategies.

12:55 - 1:10 PM

6:55 - 7:10 PM

Insights from over a decade of experience in mitochondrial disease drug development

Matthew Klein, MD, MS, FACS

Chief Operating Officer, PTC Therapeutics

PTC Therapeutics COO Dr. Matthew Klein will provide an overview of PTC’s mitochondrial disease programs and share experiences gained in over a decade of drug development for mitochondrial disease patients.

1:10 - 1:25 PM

7:10 - 7:25 PM

Development of New Drugs for Mitochondrial Diseases

with focus on Leigh Syndrome

Volkmar Weissig,ScD, PhD

Professor, Midwestern University

President, World Mitochondria Society

Cure Mito Scientific & Medical Advisory Board Member

In his talk, Dr. Weissig will give an overview over all currently ongoing or completed clinical trials involving the testing of new drug candidates for the treatment of Leigh Syndrome.

1:25 - 1:40 PM

7:25 - 7:40 PM

Q&A with the speakers

Moderated by Kevin Freiert, MBA

Accelerating Research Through Data

Moderator: Danielle Boyce, MPH, DPA

Assistant Professor, Johns Hopkins University School of Medicine

Cure Mito Scientific & Medical Advisory Board Member

Eastern Standard Time (EST)

Central European Time (CET)

 Title

 Speaker 

 Description

1:40 - 1:55 PM

7:40 - 7:55 PM

Leigh Syndrome Global Patient Registry updates

Sophia Zilber

Cure Mito Board member, Patient Registry director

This presentation will give an overview of Leigh Syndrome Global patient registry, what has been accomplished so far, and future direction.

1:55 - 2:10 PM

7:55 - 8:10 PM

CDISC and How Data Standards Can Help Drive Development of Mito Treatments

Rhonda Facile, MS

Vice President, Partnerships and Development, CDISC

This presentation will provide a brief introduction to CDISC standards, the regulatory requirement for their use in marketing applications, the need for standards.  This talk will also inform attendees on CDISC’s Real World Data (RWD) activities and what resources are available now for researchers to use to help to bridge the gap between RWD and clinical trial data for regulatory submission.  

2:10 - 2:25 PM

8:10 - 8:25 PM

Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards

Parag Shiralkar, MS, MBA

President, Sumptuous Data Sciences

This presentation gives an overview of project collaboration of Cure Mito Foundation and Sumptuous Data Sciences, LLC to establish interoperability of registry data with clinical data standards required by regulatory agencies.

2:25 - 2:40 PM

8:25 - 8:40 PM

The Rare Diseases Cures Accelerator Data and Analytics Platform: accelerating drug development for rare mitochondrial disorders.

Alexandre Bétourné, PhD, PharmD, PMP

Scientific Director, Critical Path Institute (C-Path)

The presentation will give a brief overview of the Rare Diseases program and platform of the Critical Path Institute (The Rare Diseases Cures Accelerator Data and Analytics Platform or RDCA), present an update on our current efforts for rare mitochondrial disorders, and discuss next steps.

2:40 - 2:55 PM

8:40 - 8:55 PM

SURF1-related Leigh Syndrome Health Data Insights

Shannon Rego O'Rourke, MS, CGC

Research Director, Allstripes

AllStripes Research director, Shannon Rego O'Rourke, will present new data from the SURF1-related Leigh Syndrome cohort, a partnership with CureMito, including insights into symptoms, age of onset and diagnosis, etc.

2:55 - 3:10 PM

8:55 - 9:10 PM

Q&A with the speakers

Moderated by Danielle Boyce, MPH, DPA

3:10 - 3:20 PM

9:10 - 9:20 PM

BREAK

caring for the caregiverModerator:

Moderator: Liz Morris

Courageous Parents Network: Parent & Caregiver Collaborator

Eastern Standard Time (EST)

Central European Time (CET)

 Title

 Speaker 

 Description

3:20 - 3:35 PM

9:20 - 9:35 PM

Parent panel 

Jennifer Linnebach (USA)

Krisztina Ferencz (Romania)

Jorgelina Alvarez Barral (Argentina)

Parents will share their stories and experiences.

3:35 - 3:50 PM

9:35 - 9:50 PM

Parenting Children with Mitochondrial Disease: Finding Space for Parental Well-Being

Rachel Kramer, PhD

Clinical Psychologist, Private Practice

This talk will provide realistic, actionable strategies to help parents find ways to care for themselves in the context of the unique and intense stressors presented by parenting a child with mitochondrial disease.

3:50 - 4:00 PM

9:50 - 10:00 PM

Q&A with the speakers

Moderated by Liz Morris

4:00 - 4:10 PM

10:00 - 10:10 PM

Conclusion to the conference

Jessica L. Fetterman, PhD

Kasey Woleben

SPEAKERS

vamsimootha.jpg

Vamsi Mootha, MD

Professor, Harvard Medical School

Professor, Massachusetts General Hospital

Investigator, Howard Hughes Medical Institute

Member, Broad Institute of MIT and Harvard 

steve.jpg

Steven Gray, PhD

Associate Professor, University of Texas Southwestern Medical Center

alessandro.jpg

AlessandroPrigione, MD, PhD

 

Professor, University of Düsseldorf, Germany

michal-1-143x186.jpg

Michal Minczuk, PhD

 

Group Leader, University of Cambridge

Co-founder, Pretzel Therapeutics

simonjohnson.jpg

Simon Johnson, PhD

 

Assistant Professor, University of Washington

PI, Seattle
Children’s Research Institute

Skayani_edited.jpg

Saima Kayani, MD

 

Child Neurologist, UT Southwestern Medical Center

jessica.jpg

Jessica L. Fetterman, PhD

 

Assistant Professor, Boston University School of Medicine

Joe_Bellucci.jpeg

Joe Bellucci, PhD 

 

Director, Scientific Partnerships, Rarebase

volkmar_edited_edited.jpg

Volkmar Weissig,ScD, PhD

 

Professor, Midwestern University

President, World Mitochondria Society

annemurphy.jpg

Anne Murphy, PhD

 

Vice President of Biology, Cytokinetics

alex.jpg

Alexandre Bétourné, PhD, PharmD, PMP

 

Scientific Director, Critical Path Institute (C-Path)

rhonda.jpg

Rhonda Facile, MS

 

Vice President, Partnerships and Development, CDISC

parag.jpg

Parag Shiralkar, MS, MBA

 

President, Sumptuous Data Sciences

c6aed3_dcf23d39827b42f4af3cfe2625481356.jpg.webp

Rachel Kramer, PhD

 

Clinical Psychologist, Private Practice

matt klein.jfif

Matthew Klein, MD, MS, FACS 

 

Chief Operating Officer, PTC Therapeutics

shannonallstripes.jfif

Shannon Rego O'Rourke, MS, CGC 

 

Research Director, Allstripes

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