• Facebook
  • Instagram
  • Twitter

Get Support – Call 1-888-MITO-411

  • Shop
  • Events
  • Donate
MitoAction

MitoAction

Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease

  • Mitochondrial Disease
    • About Mito
      • New Patient Kit
      • Types of Mitochondrial Diseases
      • Symptoms
      • Treatment
      • Mito FAQ’s
      • Mitochondrial Disease News
    • Diagnosis & Care
      • Diagnosing Mitochondrial Disease
      • Find a Mito Doctor
      • What is a Mito Cocktail?
      • Mito Sick Protocol
      • Clinical Trials & Studies
    • Day to Day with Mito
      • Living with Mitochondrial Disease
      • Care Management
      • Managing Your Energy
      • Traveling with Mito
      • Navigating COVID-19
    • For Medical Professionals
      • Mitochondrial Care Network
      • Monthly Expert Series
  • Fatty Acid Oxidation Disorders
    • About FAODs
      • Types of FAOD
      • Symptoms
      • Diagnosis
      • Treatment
    • FAOD Programs and Support
      • New Patient Kit
      • FAOD Support Calls
      • FAOD Experts Series
      • FAOD Resources
      • International Metabolic Conference
  • Programs & Support
    • Support
      • Mito411
      • MitoAction Memories
      • MitoPlaydates
      • MitoSocials
      • MitoChampions
      • Support Calls
      • Positive Peach Packages
    • Programs
      • Dalia’s Wish
      • Matthew Harty Camper Fund
      • Marcel’s Way Family Fund
      • MitoSantas
      • MyMito App
    • Education
      • Monthly Expert Series
      • Wondering Wednesdays
      • Energy In Action Podcast
      • Energy 4 Education
      • Patient Education Forums
      • International Metabolic Conference
    • Resources & Planning
      • Health Insurance
      • Disability Benefits
      • Mobility Devices
      • Vehicle Modification
      • Estate Planning
      • Medical Child Abuse
  • Join the Cause
    • Giving
      • Donate
      • Honor and Memorial Giving
      • Another Helping
      • Matching Gifts
      • Shop for MitoAction
      • Giving Tuesday – Ways to Give
    • Events
      • International Metabolic Conference
      • MitoAction Energy Walks
      • Sandra K. Russell Derby Day Benefit for Mito
      • Matthew Harty Camper Fund Events
    • Volunteer
      • Host a MitoSocial
      • Host a MitoPlaydate
      • Create a Fundraiser
      • MitoChampions
      • Share Your Ideas
    • Raise Your Voice
      • Take Legislative Action
      • Mitochondrial Disease Awareness Week
  • About Us
    • Contact Us
    • Connect on Social
    • Our Team
    • Meet Our Partners
    • Newsletter Signup
  • Show Search

Pyruvate Dehydrogenase, Compassionate Use & Clinical Trials

Print Friendly, PDF & Email

This presentation will discuss lactic acidosis and focus on pyruvate dehydrogenase as a case study to explore how compassionate use and clinical trials can be used in patients with mitochondrial disease. We will discuss the importance of family engagement for understanding natural history and disease prevalence in order to ultimately result in successful therapy development.

Listen Now

clinical trials, expert series, mitochondria

About the Speaker

Dr. Rebecca Ganetzky

Dr. Rebecca Ganetzky

Rebecca Ganetzky, MD is an assistant professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and an attending physician in the division of Human Genetics at the Children’s Hospital of Philadelphia, working in the mitochondrial medicine frontier program and the section of biochemical genetics. Her research focuses on mitochondrial complex V deficiency and the development of clinical biochemical assays to improve the diagnosis of mitochondrial disease. Dr. Ganetzky received her undergraduate degree in Biology & Computer Science from Oberlin College, her medical degree from the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University. She completed a combined residency in Pediatrics and Clinical Genetics and a subsequent fellowship in Clinical Biochemical Genetics at the Children's Hospital of Philadelphia.

Upcoming
Events

View All
Jun 4
7:00 pm - 8:00 pm

Traveling with an FAOD

Jun 8
8:15 am - 9:45 am Event Series

FAOD Monthly Support Call

Jun 9
12:00 pm - 1:00 pm Event Series

Weekly Support Call

View Calendar

Expert
Series

View All

Upcoming Presentations

Jun 16
12:00 pm - 1:00 pm

Aging with Mito

View Calendar

Last Presentation

Expert Series: Molecular Bypass Deoxynucleoside Therapy for Thymidine Kinase 2 Deficiency (TK2d)Expert Series:
Presented May 3, 2023

P.O. Box 310
Novi, MI 48376
(888) 648-6228
info@mitoaction.org

  • Support
  • Resources
  • Donate
  • Events
  • Subscribe
©2023 MitoAction. All Rights Reserved. Website by ThinkGenetic, Inc.

Privacy Policy. Terms of Use.