Cultivating the Best Science is Our Best Hope

Our Roadmap to a Cure

The Roadmap to a Cure initiative guides the UMDF mission and focuses on three pillars: Diagnosis, Therapeutic Development and Patient Care. We aim to fast-track science, fund infrastructure and push progress across each pillar.

“UMDF is the largest funder of mitochondrial research outside of the federal government.  In the last few years, discovery has streamlined the diagnosis for many and allowed designer therapies to be developed for several rare diseases that may be translatable to mitochondrial diseases.  The Roadmap to a Cure provides direction for obtaining a diagnosis, developing care pathways for patients and finding therapies to alleviate symptoms.”


Dr. Bruce H. Cohen

Chair, UMDF Scientific & Medical Advisory Board


The Challenge

The pathway to a mitochondrial disease diagnosis is not standardized.

Our Commitment

Create a better diagnostic scenario to identify and characterize mitochondrial disease patients based on health information, genetic testing and bio samples.

Our Strategy

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


The Challenge

There is an absence of well-controlled studies within the field and no licensed therapies for mitochondrial disease in the United States.

Our Commitment

Coordinate stakeholders in academia, government and the drug development industry to address validated outcome measures, patient-report outcomes and regulatory guidance to gain treatments more efficiently and quickly.

Our Strategy

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


The Challenge

Clinical care for mitochondrial disease patients is often inconsistent, and insurance reimbursement for rare disease care is challenging.

Our Commitment

Leverage the national focus on personalized medicine to develop programs and tools that will advance, optimize and lead to standards of patient care for the mitochondrial disease community. 

Our Strategy

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

Clinical Trial Opportunities for Patients

Our best hope for finding treatments and cures is clinical trials. For research studies to be effective, a large amount of data from a large pool of participants is essential. We urge patients to join the fight and engage in clinical trials to help make a difference for future generations.

Stay up-to-date on the latest news and updates on clinical trials. Visit the Clinical Trials database.

LHON (Idebenone)
Study to Assess the Efficacy and Safety of Raxone in LHON Patients (LEROS)

Phase 4

Clinical Trials identifier: NCT02774005

Status: Active, not recruiting

MELAS (IW-6463)

Phase 2a Study of IW-6463 in Adults Diagnosed With MELAS

Phase 2

Clinical Trials identifier: NCT04475549

Status: Recruiting 


Phase 2
Clinical Trials identifier: NCT04165239

Status: Recruiting

Pearson Syndrome (MNV-BM-BLD)

A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients with Pearson Syndrome
Phase 1/2

Clinical Trials identifier: NCT03384420

Status: Recruiting by Invitation

Primary Mitochondrial Myopathy (ASP0367)
A Study to Evaluate ASP0367 in Participants With Primary Mitochondrial Myopathy

Phase 2/3

Clinical Trials identifier: NCT04641962

Status: Recruiting

Primary Mitochondrial Myopathy (REN001)

A Study of the Efficacy and Safety of 24 Week Treatment With REN001 in Patients With Primary Mitochondrial Myopathy (STRIDE)

Phase 2/3

Clinical Trials Identifier: NCT04535609

Status: Recruiting

Pyruvate Dehydrogenase Complex Deficiency (Dichloroacetate)

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: (DCA/PDCD)

Phase 3

Clinical Trials identifier: NCT02616484

Status: Recruiting

Pyruvate Dehydrogenase Complex Deficiency (Phenylbutyrate)

Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency. (TIGEM2-PDH)

Phase 1/2


Clinical Trials identifier: NCT03734263

Status: Recruiting

Refractory Epilepsy (PTC743)

A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy (MIT-E) (Ages 18 and under)

Phase 2/3

Clinical Trials identifier: NCT04378075

Status: Recruiting

Thymidine Kinase 2 Deficiency (MT1621)

A Study of the Efficacy and Safety of MT1621 in Thymidine Kinase 2 (TK2) Deficiency

Clinical Trials identifier: NCT04581733

Status: Not yet recruiting

MELAS (7416)


7416: Phase-1, dose finding and safety study on L-Citrulline  Treatment of Nitric Oxide Deficiency in MELAS 


Study Summary  

The main purpose of this study is to determine the safest maximum dose of an amino acid, citrulline, which will be used as potential treatment for adult patients with a disorder of energy metabolism called Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). Once established, this dose will be used in a future clinical trial. 



The human body is made of many cells and each cell contains many mitochondria. Mitochondria are called the powerhouses of the cell, because they produce the energy needed for a cell to be healthy and function the way it is meant to. Diseases of the mitochondria affect the way the tissues and cells of the body make and use energy, and can affect almost all the different organs of the body like the brain and the muscles.  

MELAS syndrome is one of the mitochondrial diseases; patients with this disease have different complications including stroke like episodes, headache, muscle weakness, fatigue, and hearing loss.  One of the factors contributing to complications seen in patients with MELAS syndrome, in particular the stroke like episodes, is decreased amount of an element called nitric oxide. This element is made in our bodies from an amino acid called arginine. Amino acids are the building blocks of proteins. Proteins make the muscles in our bodies, and they are present in meat, chicken and fish. 


About this Study  

In this study, the highest acceptable dose of an amino acid called citrulline will be established in people who have a mitochondrial disorder. Previous research conducted by several groups including our center at Baylor College of Medicine has determined that there is a deficiency of a compound called nitric oxide in people affected with MELAS.  

The lack of nitric oxide could cause constriction of blood vessels in the brain making it easier for these people to have a metabolic stroke. The amino acid citrulline is a foundation for nitric oxide. In earlier studies, we have found that there is more production of nitric oxide in the body when people take L-citrulline.  

How to Join:  

In order to participate in a study, you must personally contact the study coordinator at Baylor College of Medicine, by phone or by e-mail. Please use the information below to ask about participation. 

May Ali 

Research Coordinator 

Department of Molecular and Human Genetics 

Baylor College of Medicine 

Texas Children’s Hospital 

6701 Fannin street, CC 1560.10 

Houston, TX 77030 

Phone: +1 832-822-1630


Learn More About UMDF’s

Research Grant Program

The UMDF Research Grant Program was established in 1996 at a time when no other organization existed to fund mitochondrial disease research. Today, UMDF is the largest, non-governmental funder of basic and translational research designed to bring the best science from the bench to bedside.

Annual UMDF Grant Prize Winners

The UMDF Research Grant Program proudly funds clinicians at every stage of their professional career to cultivate the most promising science.  All submitted research projects are peer reviewed by the top global scientific and medical experts in the mitochondrial research field.

2020 Early Stage Investigator Prize Winner

Breann Brown, PhD
Vanderbilt University

Project: Mechanisms of protein assembly underlying mitochondrial DNA maintenance but altered in early-onset neurodegenerative disorders


Award: $100,000

2020 Experienced Investigator Prize Winner

Hajime Sakai, PhD

Project: Implementation of the CRISPR gene editing technology – Edit Plasmids – toward the curing of mitochondrial diseases caused by mutations in mitochondrial DNA

Award: $100,000

2020 accelerators Big Pitch Winner

Dr. Kinsley Christopher Belle
Stanford University

Project: A two pronged approach to further our understanding of the role heteroplasmy and mutations play in mitochondrial disease.

Award: $50,000

Interested in applying for a UMDF Research Grant?   

Your Dollars at Work

Your donations power our ability to support science dedicated to mitochondrial disease research.

million in grants awarded

million stimulated in government grant follow on funding

labs funded and launched

million dedicated to Leigh Syndrome Roadmap Initiative

Making an Impact in Drug Development

UMDF recognizes industry as an essential partner in developing treatments and cures for mitochondrial disease.

Industry Advisory Council

Our Industry Advisory Council (IAC) is organized to optimize collaboration with global pharmaceutical companies, diagnostic centers, supplement manufacturers and assisted device services to help move our mission forward.


Facilitating Drug Development

There is a need to generate more urgency within the drug industry to invest and develop therapeutic treatments focused on mitochondrial disease.


A National Organization with a

Global Reach

No single organization can take on mitochondrial disease alone. UMDF has gathered the leading mitochondrial disease patient advocacy groups from around the globe to form and fund The Leigh Syndrome International Consortium. This Roadmap to a Cure project showcases our active dedication to find the best science wherever it is located in the world.


UMDF interacts with multiple organizations and is the nucleus of many infrastructure projects dedicated to mitochondrial disease clinical research and patient care. UMDF is collaborating with key stakeholders to create a single hub essential for sharing and dispersing critical information to benefit the entire mitochondrial disease community.

UMDF stewards the Mitochondrial Disease Community Registry, a collection of patient health data and symptoms to study diagnosis.

UMDF is an executive committee member of the North American Mitochondrial Disease Consortium, a clinical research network funded by NIH.

UMDF plays an active role and co-funds the Mitochondrial Care Network to optimize clinical care.

UMDF collaborates with the Mitochondrial Disease Sequence Data Resource Consortium, a partnership with Children’s Hospital of Philadelphia to consolidate research data.

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