Mitochondrial Disease Research

Many drug trials take years - and treatment advancements happen one small step at a time.

Compounding this challenge is the fact that mitochondrial diseases have many, many causes and will have many, many cures. One cure, one timeline, simply does not exist but with your help we will move forward faster.

New Drug Challenges

1. High Cost--$100million to $1billion
2. Development takes many years-from 5-10 years
3. Regulatory Hurdles-clinical, FDA, compliance
4. External Hurdles-reimbursement, market acceptance

Drug development for mitochondrial disease has only just begun (see light blue area on chart).

The road to successful new drugs and drug therapies is riddled with incredible successes and forgotten failures. Recent studies estimate an average timeline to bring a drug to market is 13 years and $1B. And each new drug leads us to a cure.

75% of the costs of drug development are associated with compounds failing in early stage development. Additionally, 90% of new drugs fail in Phase 2 and 3.

For more information on The Path to a Cure download the Roadmap.

The Foundation for Mitochondrial Medicine's Bypass To Treatment Oriented Research
For the Foundation for Mitochondrial Medicine there is one barometer of our success: supporting and accelerating the development of the most promising mitochondrial research and treatments of the many, many forms of mitochondrial disease and disorders. We've developed a targeted approach through these three key strategic initiatives that helps us identify and prioritize the patient-relevant science that will allow us to reach our goal.

Our short-term goal is to raise money to push mitochondrial medicine research forward. At this point there has only been one FDA approved mitochondrial disease drug trial that has reached Phase 1. The more resources we have, the more we can augment the path to the cure including an increase in clinical drug trials. The Foundation's bypass fuels connections, encourages scientific collaboration, and will bring forth people, ideas and partnerships to set the wheels in motion to develop treatments, sooner and quicker than ever before.

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The Food and Drug Administration (FDA) is the arbiter. The approval process involves several steps including pre-clinical laboratory and animal studies, clinical trials for safety and efficacy, filing of a New Drug Application by the manufacturer of the drug, FDA review of the application and FDA approval/rejection of the application.

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A research study to answer specific questions about new vaccines or new therapies or new ways of using known treatments. Clinical trials are also used to determine whether new drugs or treatments are both safe and effective-does it help the disease?

Four Phases of New Drug Development:

Phase I: tests a new drug or treatments in a small group. Initial studies to determine the metabolism and pharmacologic actions of new drugs in humans, the side effects associated with increasing doses, and to gain early evidence of effectiveness, may include healthy participants and/or patients.

Phase II: expands the study to a larger group of people; controlled clinical studies conducted to evaluate the effectiveness of the drug for a particular indication or indications in patients with the disease or condition under study and to determine the common short-term side effects and risks.

Phase III: expands the study to an even larger group of people. Expanded controlled and uncontrolled trials after preliminary evidence suggesting effectiveness of the drug has been obtained and are intended to gather additional information to evaluate the overall benefit, risk relationship and provide an adequate basis for physician labeling.

Phase IV: takes place after the drug or treatment has been licensed and marketed. Post-marketing studies to delineate additional information including the drug's risks and benefits.

In order to determine who is best suited and will be best fitted to a specific trial, an appropriate understanding an individual's diagnosis is imperative. Safety monitoring by boards is critical.

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In 2009, FDA approval occurred for an EID (Emergency Intervention Drug) to treat a mitochondrial disease with the new drug from Edison Pharmaceuticals, EPI-743. This represents the first steps toward viable treatments and hopefully, the beginning of many more near-term advancements. While the Foundation for Mitochondrial Medicine has supported this trial at the Medical University of South Carolina, to augment patient care during the trial, staff support and data collection support, FDA regulations do not provide specific data or information concerning the trial.

Many groups of patients with mitochondrial disease exist-the goal is to understand how to treat each group, one step at a time!

This is a promising time for patients with mitochondrial disease and clinicians and researchers interested in mitochondrial disease research.

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The Foundation for Mitochondrial Medicine is dedicated to supporting Institutional Review Board IRB-approved and/or FDA-approved studies. We are the first mitochondrial disease non-profit organization to have financially supported the first FDA-approved drug treatments, begun in 2009.

The enchanting firefly may hold an important key to understanding mitochondrial disease and studying the way cells use energy. In mitochondrial diseases, the body cannot make enough energy, or ATP. To measure ATP in each cell, scientists are currently using the material found in a firefly’s tail light - luciferase – mixed with a recombinant DNA to study cell energy production. Information gathered from luciferase research has the potential for use in a broad array of applications, including drug discovery, patient diagnoses, patient treatment and disease monitoring. The firefly is the Foundation's symbol of hope and treatment, and it may soon light the way towards a cure of mitochondrial disease.

Due to the large number of genes that cause mitochondrial disease and disorders, a single treatment for all patients is unlikely. Patients with one type of mitochondrial disease may not respond the same way as another patient who has a different type of mitochondrial disease. Mitochondrial medicine research is beginning to move past the use of supplements like Coenzyme Q10 and other compounds.

Although mitochondrial diseases do not have a cure, they can be treated and managed. There are a number of different types of symptoms that can be effectively managed. For example, deficiencies in a brain compound called 5-methyltetrahydrofolate (5-MTHF) that is caused by some mitochondrial diseases can be treated. Treatment of deficiencies in 5-MTHF can decrease many symptoms including epilepsy, developmental delays, and autistic features. (Neurology. 2005 Mar 22;64(6):1088-90; Neuropediatrics. 2007 Dec;38(6):276-81; J Autism Dev Disord. 2008 Jul;38(6):1170-7; Neurology. 2005 Mar 22;64(6):1088-90).

Early recognition and management of mitochondrial diseases and disorders is an important measure for reducing the cost of healthcare for these patients.

Neuropsychological impact of mitochondrial dysfunction

Dr. Robin Morris, Head of Neuropsychology at Georgia State University is currently studying mitochondrial dysfunction in the brain and thereby the impacts to cognitive development and performance. Behavioral and learning problems are being noticed in patients with mitochondrial disease. Because mitochondria are very heterogenous certain types of mitochondrial diseases may have different outcomes from others.

Areas that Seem to Be Impacted Include:

1. Language
2. Visual spatial processing
3. Memory, including auditory, visual, verbal, spatial; either short-term or long-term memory
4. Fine motor dexterity
5. Executive functions, including organizational/planning, problem solving and conceptualization
6. Attention