2nd Annual Precision Mitochondrial Medicine Symposium

Marni Falk, MD, executive director of the Mitochondrial Medicine Frontier Program, and the entire Mitochondrial Medicine faculty invite you to attend the Annual Precision Mitochondrial Medicine Symposium at CHOP, being held during Mitochondrial Disease Awareness week.

Primary mitochondrial diseases share an impaired ability to generate energy our bodies need to function. Highly heterogeneous in genetic etiology and phenotypes, primary mitochondrial diseases are collectively the most common inherited metabolic disorder and affect at least 1 in every 4,300 individuals. Now recognized to result from pathogenic variants in any of several hundred different genes, mitochondrial disease can be difficult to diagnose and may be challenging to manage given the multi-system involvement. However, consensus management guidelines have emerged to standardize and improve patient outcomes.

This symposium will focus on clinical research updates in mitochondrial disease and discuss approaches to optimize health outcomes by providing multi-disciplinary family support services. Sessions will include presentations and discussions with multiple mitochondrial disease clinicians and subspecialist experts, in addition to a lunch panel with mitochondrial disease patients directly sharing their stories and experiences in Mitochondrial Medicine.

Symposium agenda

Morning Session: Mitochondrial Disease Clinical Care and Research

10:00 – 10:10 am - Welcome and introduction
10:10 – 10:40 am - Mitochondrial Medicine Frontier Program Origins, Mission, and Updates
10:40 – 11:10 am - Clinical Care Metrics, Activities, and Access
11:10 – 11:40 am - Clinical Research Updates: Natural History Studies, Outcome Measure Validation, and Range of Clinical Research Programs
11:40 – 12:10 pm - Clinical Treatment Trial Updates
12:10 – 12:50 pm - Live panel discussion and Q&A of session speakers
12:50 – 1:00 pm Break

Lunch session: Family Perspective

1:00 - 1:40 pm - Lunch interview session with mitochondrial disease families who participate in CHOP MMFP clinical care and clinical research
1:40 – 1:50 pm - Break

Afternoon Session: Supporting Mitochondrial Disease Patients and Families

1:50 – 2:15 pm - Neuropsychologic Problems and Management Options for Mitochondrial Disease
2:15 – 2:40 pm - Developmental Disability in Mitochondrial Disease: Delineating the Problem and Developing Effective Strategies
2:40 – 3:05 pm - Motor Developmental Delay and Disability in Mitochondrial Disease: Assessments and Treatment Strategies
3:05 – 3:30 pm - Psychosocial Challenges in Living with Mitochondrial Diseases: Coping Strategies
3:30 – 3:55 pm - Social Work Challenges and Opportunities to Support Mitochondrial Disease Families
3:55 – 4:20 pm - Live panel discussion and Q&A of session speakers
4:20-4:30 pm - Summary of CME day and feedback session
4:30 p.m. - Adjourn