Frequently Asked Questions
Here you will find answers to commonly asked questions about mitochondrial disease and The Foundation for Mitochondrial Medicine.
It’s an energy production problem. Almost all cells in the body have mitochondria, which are tiny “power plants” that produce a body’s essential energy. Mitochondrial dysfunction means the power plants in cells don’t function properly. When that happens, some functions in the body don’t work normally. It’s as if the body has a power failure: there is a gradation of effects, like a ‘brown out’ or a ‘black out.’
What does mitochondrial disease look like?
It takes many different forms.It can look like any number of better known diseases: Autism, Parkinson’s disease, Alzheimer’s disease, Lou Gehrig’s disease, muscular dystrophy and chronic fatigue. Staying with the power plant analogy, power plants provide energy to a large community with each part of the community requiring varying degrees of power; in the same way, mitochondria provide energy to various organs of the body. So, when there is a malfunction, a “black out” looks like Leigh’s Disease, severe and fatal, while a “brown out” might be severe, but not lethal.
What happens to you when you get a mitochondrial disorder?
It primarily affects brain, heart and muscle in varying levels of severity.It ranges from intermittent difficulty thinking, remembering, moving and acting, to severe handicaps. Some results may be fatigue, muscle weakness and diabetes. And all this is overlaid by good and bad days caused by significant inconsistency-like the electricity flickering in different areas of a community.
New research: Leading research for effective mitochondrial disease treatments is demonstrating that there are neuropsychological impacts from the disease to cognitive development and performance. Attention problems, limited cognitive flexibility and slow processing speed and thinking are some of the more frequent noticeable manifestations from the mitochondrial dysfunction.
Treatment of deficiencies in 5-MTHF can decrease many symptoms including epilepsy, developmental delays, and autistic features, even symptoms involved in chronic fatigue and other myalgias.
When does mitochondrial disease appear?
At any age. For some it appears at birth. For others it develops over time. We’re learning it’s not at all rare but, due to a lack of physician and public awareness, mitochondrial disease is not often diagnosed. Only in the past 10 years, with advances in genetics and molecular biology, have we a better understanding of the complexity in mitochondrial disorders. Even so, the definitive cause (or causes) of mitochondrial disease continues to evolve.According to the Centers for Disease Control (CDC):
1 in 2,500-3,000 are affected by mitochondrial disease
1 in 2,500 are affected by Cystic Fibrosis
1 in 110 are affected by Autism
1 in 500 are affected by Parkinson’s
1 in 85 are affected by Alzheimer’s
1 in 25,000 are affected by Leigh’s Disease, a fatal form of mitochondrial disease
What are mitochondrial disease treatments?
Currently there are no highly effective mitochondrial disease treatments. Though related symptoms, such as seizures or attention problems can be managed with various medications, the mitochondrial disease itself is unchanged. Unfortunately, supplements such as CoQ10 and L-Carnitine have little to no effect on most patients.
When will you have a cure?
Many drug trials take years – and treatment advances 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.
Path to a Cure
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’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. 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.
What is the purpose of the Foundation for Mitochondrial Medicine?
Our foundation supports the development of the most promising mitochondrial disease research and treatments. We’re funding the cures. Period.
Why Should I Donate?
Our foundation supports the development of the most promising research and treatments of the many, many forms of mitochondrial disease. We’re funding the cures. Period.Helping us helps so many others as we are supporting the first step approved by the FDA to investigate mitochondrial disease treatment.
And it’s this web of complexity and connectivity that makes mitochondrial disease research valuable to so many.
How much money do you need?
The Foundation for Mitochondrial Medicine invests in the most promising mitochondrial disease research for treatment. We are currently supporting the first phase research approved by the FDA to investigate mitochondrial disease treatment, which will eventually lead to a full clinical trial.Depending on the design of that clinical trial (total cost for the assessment of a single drug varies significantly) it could require $1.5-$5.0 million or more per trial to test a potential mitochondrial disease treatment. This translates into approximately $20,000-50,000 per patient for each year the patient is in the trial. And none of these expenses include the fees that must be paid to a pharmaceutical company for the actual drug development.
As we work to overcome these challenges, the more you support the Foundation for Mitochondrial Medicine the more we can do.
How can a person request testing for mitochondrial disease?
A conversation with your primary care physician is the first step. A referral to a specialist in mitochondrial disease is often needed for diagnosis.
How severe does mitochondrial disease need to be for a doctor to request testing?
There is no single test to diagnose mitochondrial disease in most patients. There are varying degrees of manifestation of symptoms so, along with your primary care physician a specialist can evaluate the appropriate next steps in diagnosis.