Externally Led Patient-Focused Drug Development Meeting on POLG

Externally-led Patient-Focused Drug Development meetings give the FDA and other key stakeholders—including medical product developers, health care providers, and federal partners—an important opportunity to hear directly from patients, their families, caregivers, and patient advocates about the symptoms that matter most to them, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments. This input can inform the FDA’s decisions and oversight both during drug development and during review of a marketing application.

This PFDD meeting is a critical opportunity to elevate the voice of those impacted by MELAS, helping the FDA and other key stakeholders understand the real-life burden of this complex and progressive mitochondrial disorder. Insights shared during the meeting will help guide future research, therapy development, and regulatory decisions. MitoAction will be working alongside advocacy partners including UMDF, IMP, and MDA among others to bring this meeting forward.

Following the PFDD meeting, MitoAction will summarize the input shared by patients and patient representatives in a Voice of the Patient report, which will be shared with the FDA and other key stakeholders. Clinicians, researchers, and industry partners will continue to refer to the summary report as they work on new therapies and treatments. Links to meeting materials, including transcripts, webcast recordings, presentation slides, and Voice of the Patient reports can be found on the Condition-Specific Meeting Reports webpage.

POLG-related disorders are a group of rare genetic conditions that affect the mitochondria. Mitochondria are the parts of a cell that help turn the energy we get from food into energy that the body can use. They are also important in the communication between body parts and creating other materials the body needs. Mitochondrial conditions can cause a variety of signs and symptoms in many parts of the body, particularly those that use a lot of energy like muscles and the brain.  The gene POLG provides instructions to make part of an important protein called polymerase gamma (pol gamma). Pol gamma is the only protein of its kind that can copy and repair the set of DNA found in mitochondria (mtDNA).

POLG-related disorders are a group of conditions whose signs and symptoms can overlap and vary widely. These conditions were discovered and named before scientists knew they were caused by different changes in the same gene.  POLG-related disorders are sometimes discussed together as a group, and are sometimes discussed as individual disorders. Imagine POLG Mutations/Related disorders as a large umbrella, and underneath that umbrella there are specific types of POLG-related conditions. These types include: Alpers-Huttenlocher syndrome (Alpers syndrome, or AHS), ataxia neuropathy spectrum (ANS), childhood myocerebrohepatopathy spectrum (MCHS), mitochondrial neurogastrointestinal encephalopathy disease (MNGIE), myoclonic epilepsy myopathy sensory ataxia (MEMSA), progressive external ophthalmoplegia (PEO), and Leigh syndrome.

Learn more about POLG-Related Disorders