Roadmap to a Cure

Through persistent funding of scientific research and strong advocacy efforts,  YOU have helped make significant progress in the last two decades toward the development of treatments and cures. Based on this progress, the pharmaceutical industry has shown increased interest in developing therapies for mitochondrial diseases.

Today, we have a perfect storm of opportunity to affect change now and in the near future. By supporting UMDF’s Roadmap initiative, you play an important role in the development of better diagnoses, effective therapeutics and optimized patient care.

Click here to see progress made on the roadmap in 2017.

The Roadmap to a Cure focuses on three pillars for better patient outcomes.

The “pillars”, detailed below, are DIAGNOSIS, THERAPEUTIC DEVELOPMENT and PATIENT CARE.


Increasing Awareness
Improving Diagnoses
Developing Tools to Measure
Mitochondrial Health/Disease

Therapeutic Development

Facilitating Drug Development
Identifying & Funding Gaps from
Basic Science to Clinical Trials

Patient Care

Personalized Medicine
Patient/Clinical Education
Developing Coordinated Care Models
Establishing Centers of Excellence


Genetic testing presents an excellent opportunity to achieve a specific diagnosis, but less than half of all cases are successfully diagnosed by genetic testing. Other testing methods include muscle biopsies, fibroblasts or buccal swabs. Brain imaging, exercise physiology and various lab measurements of mitochondrial function show some promise. In general, the pathway to diagnosis is not standardized.

UMDF wants to create a better diagnostic scenario for mitochondrial disease patients, there is a clear need to broadly identify and characterize patients based on health information, genetic testing and biosamples.


There are no licensed therapies for mitochondrial disease in the United States. Numerous investigator-initiated trials have been conducted, but in general, there is a notable absence of well-controlled studies within the field. Industry sponsored clinical trials are rapidly increasing in number.

Our role is to coordinate stakeholders in academia, government and the drug development industry to address important topics such as validated outcome measures, patient-report outcomes and regulatory guidance. These steps are necessary in gaining treatments and cures for mitochondrial disease more efficiently and quickly.


Mitochondrial disease patients receive care from a relatively small number of knowledgeable specialists. The many different types of mitochondrial disease and the many symptoms associated with each challenge even the most knowledgeable of doctors. The result is clinical care that is often inconsistent. Additionally, insurance reimbursement for rare disease care is an increasingly challenging situation.

UMDF’s goal is to take advantage of a national focus on“personalized medicine” affording an opportunity for the mitochondrial disease community to help develop the programs and tools that will advance optimized patient care in the 21st century. We are committed to collaboration that leads to standards of care and Centers of Excellence models.