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Foundation for Mitochondrial Medicine

Day 9: Colby Wren – One of the MANY Faces of Mitochondrial Disease

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Mitochondrial disease is a complex, underdiagnosed disease that may appear anytime – at birth, in the teen years or, as an adult. The disease can attack at any age and has links to other more familiar disorders: Autism, Parkinson’s, Alzheimer’s, Lou Gehrig’s disease (ALS), muscular dystrophy. 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.

Colby Wren {One Face, One Story}

Some of you may already know Colby from Hope Flies Home Run Challenge, Hope Flies with the Braves or even the special featured on CNN.

From the outside, you would never know that Colby has mitochondrial disease. When he practiced and played football games, he would get sick during and after each. Now that he’s been diagnosed, he knows mitochondrial disease is just something in his life he has had to learn to manage on a daily basis.

Colby and Fans at Hope Flies Home Run Challenge

Colby and Fans at Hope Flies Home Run Challenge

Physically, Colby was never in better shape than when he first started sports training. My body took the initial training really well, but after the first year it really took a toll. I began getting many of symptoms of mitochondrial disease, which I had neglected noticing.

Needless to say, when the season ended and he had the opportunity to rest, he did so freely. Checkups and blood work during the times of high activity had very negative numbers when it came to my mito metrics, but Colby noticed that other areas my body was thriving because he was in great shape. The same cycle occurred his second year playing baseball at Georgia Tech: get in great shape, hit a wall, and that year his grades hit an all-time low. Georgia Tech is challenging enough when you are just a student there, but when you are a student with incredible mental and physical fatigue, those calculus classes and science classes can be ruthless. Falling just under a 3.0 my freshman year, my sophomore year was very lackluster and I struggled to recall almost anything that I studied for. This is when I knew a change needed to occur.

Katie, Colby and Friends enjoyed the afternoon at Turner Field for Hope Flies with the Braves.

Katie, Colby and Friends enjoyed the afternoon at Turner Field for Hope Flies with the Braves.

While Colby was passionate baseball, meeting with his doctor during his last semester playing gave him some incredible insight and pause. Colby’s body, though in shape, was not as healthy as he needed it to be. But when you’re given options to continue playing a few years versus being able to be healthy and active for your future generations it is a very simple decision. Colby immediately gave his body lots of rest and neglected his health, which was the most important in the long run.

Colby is currently an Ambassador for the Foundation for Mitochondrial Medicine and sharing his story to help us raise awareness and fuel connections.  Colby is an active part of our Hope Flies events in the Atlanta area.

Colby has been an inspiration to many others affected by mitochondrial disease and even called a “hero” by one mito mom!

#20DaysofGlow

Global Mitochondrial Disease Awareness Week

Make this your profile picture to raise awareness for mitochondrial disease!

September 18 – 24 is Global Mitochondrial Disease Awareness Week (GMDAW)

Organizations around the world dedicated to finding a cure and helping families affected by mitochondrial disease unite this week in an effort to build awareness of the disease and the need for further research.

Today, the Foundation for Mitochondrial Medicine launches the awareness week with simple daily activities that each of you can do to help us spread awareness about the disease. If everyone does just a few of these, you will help us raise critical understanding about mitochondrial function and disease.

The Foundation will cap the week with its annual Hope Flies Catch the Cure fundraiser on Friday, September 23 at the Stave Room at American Spirit Works. A fun night of cocktails, dinner, dancing and auctions, Hope Flies Catch the Cure helps raise funds to continue the Foundation’s mission to fund a cure, fuel connections and lead the way in mitochondrial disease research.

Change your social media profile pictures to FMM’s GMDAW logo today and keep it up all week. Post why you’re helping build awareness this week.

Make this your profile picture to raise awareness for mitochondrial disease!

Make this your profile picture to raise awareness for mitochondrial disease!

The Foundation for Mitochondrial Medicine will denote each day of the week with an awareness activity for all of our supporters to participate in and help spread awareness of mitochondrial disease. Here’s a quick list of the things you can do to help this week:

  • Change your Facebook Profile Picture to an FMM graphic
  • Share a story on social media about why your hope flies
  • Participate in the Foundation Fund-A-Need with our Hope Flies Catch the Cure Event
  • Calculate and share your “Firefly Number” by totaling the number of people you know with mitochondrial disease, diabetes, Alzheimer’s, Autism, chronic fatigue syndrome, ALS and Parkinson’s disease.
  • Join the Foundation for the Hope Flies Catch the Cure gala on Friday, September 23 and share pictures on social media; tag your posts with #hopeflies
  • Listen to STAR 94 for radio spots mentioning the awareness week

Your participation will help make this year’s Global Mitochondrial Disease Awareness Week a huge success and help raise critical funds needed for mitochondrial disease research. Make plans now to help share messages of hope and awareness starting September 18!

DONATE

 

Global Mitochondrial Disease Awareness Calendar of Activities:

Mitochondrial Disease Profiled at Annual Bio Convention

Bio International Convention
FMM’s Executive Director, Laura Stanley, Participated in the BIO 2016 International Conference in San Francisco

Bio International ConventionSan Francisco was the city. The BIO 2016 International Convention www.bio.org was the place.  Mitochondrial Disease was in the spotlight among 15,000 biotechnology and pharma leaders who came together for one week of intensive networking to discover new opportunities and promising partnerships. This event covered a wide spectrum of life science and application areas including drug discovery, biomanufacturing, genomics, biofuels, nanotechnology and cell therapy.  It was both exciting and gratifying to seeMitochondrial Disease as a key topic during the convention’s breakout sessions.

The UMDF’s Phil Yeske and Liz Kennerley and I were key patient advocacy voices along with scientific experts like Drs. Michio Hirano, Marni Falk, Mark Tarnopolsky, Hani Sabbah and pharma representatives from Stealth Biotherapeutics, Edison Pharmaceuticals along with several others holding a strong interest in mitochondrial dysfunction, like Raptor, Avanex, Reata, Retrotrope, Cardero Therapeutics and more.  Three different sessions highlighted 1) the challenges and opportunities in mitochondrial disease research, 2) scientific regulatory gaps for drug development and 3) the promise of mitochondrial research to unlock answers of aging and other diseases like Parkinson’s and Alzheimer’s.  Each session boasted a full room of attendees and the audience participation demonstrated the increasing level of prominence and emphasis of mitochondrial research in the biotech community.

A noteworthy highlight included Stealth Biotherapeutics announcing promising results of their recent mitochondrial myopathy clinical trial of the drug Ilamipretide.  See details in the attached press release.  http://www.prnewswire.com/news-releases/stealth-biotherapeutics-reports-positive-elamipretide-data-in-first-of-its-kind-primary-mitochondrial-myopathy-trial-300286373.html?tc=eml_cleartime  Additionally, the complexities of clinical trial design, endpoints and participation were presented—plenty of reminders that getting drugs to market is a long, hard road.   We patients are definitely a voice for positive change and there is momentum. It is my hope that our community continues to gain traction and that through partnerships and collaboration like those fostered at Bio, treatments can be attained for our patients and for multiple diseases.  Hope can fly. Hope can heal.  Please continue to share stories, fuel connections and help fund treatments.

 

Click Below to View Laura’s Presentation

 

 

 

 

 

Stealth reports positive results from MMPOWER trial

Mito Organizations

Mitochondrial disease organizations across the United States and Canada are thrilled with the results.

“Today’s news from the Stealth BioTherapeutics trial represents far more than data — it provides hope for every adult and child with mitochondrial disease,” said Cristy Balcells, RN MSN, Executive Director of MitoAction.

MMPOWER, a Phase 2 trial, evaluated the systemic delivery of elamipretide for the treatment of primary mitochondrial myopathy, or muscle weakness, in patients with a genetically confirmed mitochondrial disease.

Stealth_72dpi“We offer our congratulations to Stealth BioTherapeutics. Twenty years ago, we never thought we would see clinical trials for mitochondrial disease, let alone the encouraging news shared with our community today,” said Charles A. Mohan, Jr., UMDF Executive Director and CEO. “We are anxious to learn more at our symposium in Seattle next week as we continue to build relationships with our science and industry partners that will result in more clinical trials and potential treatments and cures.”

Mito OrganizationsMaureen Latocki, Executive Director of MitoCanada Foundation, added, “Canadians will be very encouraged by the positive results from the MMPOWER trial. We congratulate StealthBT on this achievement and look forward to next steps.”

“It is exciting to see progress and success by Stealth BioTherapeutics in this area of mitochondria-targeted drug therapy,”  said Laura Stanley, Executive Director of the Foundation for Mitochondrial Medicine. “Unlocking answers in one area of mitochondrial malfunction can possibly translate into further impact for another area of mitochondrial disease.”

Stealth will present the release notes today at the BIO International Convention in San Francisco, participating in the Mitochondrial Disease Forum, and Mark Bamberger will present during the “Drug Development for Mitochondrial Disease: Examining the Current Landscape and Scientific/Regulatory Gaps” session.

Data from the MMPOWER trial will be officially presented at the United Mitochondrial Disease Foundation (UMDF) symposium on Friday, June 17 at 8:10 a.m. PT.

“We … look forward to presenting positive results from the MMPOWER trial and our ongoing development plans for elamipretide in rare mitochondrial diseases, for which there are currently no FDA-approved treatments,” said Stealth’s Chief Executive Officer Reenie McCarthy.

Click here for Stealth’s full press release

 

Mitochondrial Disease and ALS (Lou Gehrig’s Disease)

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Web of Connectivity - ALSMitochondrial disease can look like any number of better known diseases, including: AutismParkinson’s diseaseAlzheimer’s diseaseLou Gehrig’s disease (ALS), muscular dystrophy and chronic fatigue, among others. Adults and children with it can have features similar to other disorders like: Epilepsy, Myopathy, Developmental Delay, learning disabilities and Fibromyalgia.

Research shows that mitochondrial dysfunction is often a central element of these more commonly recognized diseases. Studies and reports indicate the “orange” ones are more influenced. A cure for mitochondrial disease could impact cures for Autism, Parkinson’s, Alzheimer’s and Muscular Dystrophy.

What is the role of the Mitochondria in ALS?

In ALS, evidence is building that actions on or originating in the mitochondria may be an important part of the disease. Changes in the mitochondria can be detected before one can find a physical change such as hind limb weakness in mice.

A role for mitochondria in ALS may explain why SOD1 mutant proteins selectively damage the motor neurons. Some recent studies suggest that mutant SOD1 protein builds up in the mitochondria, unlike normal SOD1 protein which is present throughout the cell but may not be in the mitochondria in healthy cells. This possible shift of mutant SOD1 into the mitochondria may be occurring in motor neurons and not in the liver and kidneys, some evidence suggests.

Mitochondria, as stated earlier, are also involved in the process called apoptosis, a deliberate removal of cells. Some investigators have found that mutant SOD1 attaches to key proteins involved in the cell death process further implicating mitochondria and apoptosis in ALS.

Frank physical damage to the mitochondria is evident in mice with some of the known SOD1 mutations. First, the organelles swell, then they develop empty spaces. Normal mitochondria consist of tightly folded membranes that provide a platform for the metabolic reactions that generate cellular fuel. After the empty spaces appear, the inner membranes of the mitochondria break apart.

The empty spaces appear in mitochondria early in the disease process in the mice. Other researchers have determined that a very early change in mice with mutant SOD1 is a slowing of mitochondrial reactions that provide energy to the cell.

ALS Association–funded researchers are working on all of the intriguing possibilities for a critical role of the mitochondria in ALS. It should be noted that these cellular fueling pumps are also implicated in such neurodegenerative diseases as Parkinson’s and Alzheimer’s.

Information about ALS and Mitochondrial Disease provided by The ALS Association and www.alsa.org.

What is ALS?

Amyotrophic lateral sclerosis (a-mi-oh-TROH-fik LAT-ur-ul skluh-ROH-sis), or ALS, is a serious neurological disease that causes muscle weakness, disability and eventually death. ALS is often called Lou Gehrig’s disease, after the famous baseball player who was diagnosed with it in 1939. In the U.S., ALS and motor neuron disease (MND) are sometimes used interchangeably.

ALS often begins with muscle twitching and weakness in an arm or leg, or with slurring of speech. Eventually, ALS affects your ability to control the muscles needed to move, speak, eat and breathe.

Prevalence:

Worldwide, ALS occurs in 1 to 3 people per 100,000. In the vast majority of cases — 90 to 95 percent — doctors don’t yet know why ALS occurs. About 5 to 10 percent of ALS cases are inherited. (Mayo Clinic)

ALS is a disorder that affects the function of nerves and muscles. Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with ALS each year. (That’s 15 new cases a day.) It is estimated that as many as 30,000 Americans have the disease at any given time.  According to the ALS CARE Database, 60% of the people with ALS in the Database are men and 93% of patients in the Database are Caucasian. (Information provided by The ALS Association Georgia Chapter)

 

Share This Message to Help Us Raise Awareness for Mitochondrial Disease
and the MANY Related Diseases!

 

Hope Flies Health Series: Parkinson’s and Mitochondrial Disease

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On April 6th, the Foundation for Mitochondrial Medicine (FMM) hosted its second Hope Flies Health Series Webinar: Research Connecting Parkinson’s Disease and Mitochondrial Disease. The Foundation developed the webinar with partners including the Michael J. Fox Foundation (MJFF), Wilkins Parkinson’s Foundation and Sharecare to bring greater awareness to mitochondrial disease and its connection to Parkinson’s disease.

Did You Miss the Webinar?  View the recorded session.

 

About the Webinar Panelists

Wolfdieter Springer, PhD, Assistant Professor of Neuroscience, Mayo Clinic
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The research interests of Wolfdieter Springer, Ph.D., revolve around cell biology in aging and age-dependent disorders. His primary research focus is on the molecular and cellular mechanisms underlying the pathogenesis of Parkinson’s disease and other related neurodegenerative disorders.

Dr. Springer’s lab takes a combinatorial approach using biochemistry, cell biology and advanced imaging techniques, such as multicolor live cell and high-content microscopy. His lab aims to identify novel genetic and chemical modifiers in cell-based assays, as well as in vivo using C. elegans as a screening tool.Functional insights gained through Dr. Springer’s research will provide the basis to address unmet medical needs, such as identifying faithful biomarkers and developing novel therapeutic strategies that halt or prevent devastating neurodegenerative diseases.

Laura Stanley, Executive Director, Foundation for Mitochondrial Medicine
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Laura joined the Foundation for Mitochondrial Medicine in January 2010 as FMM’s first Executive Director. Laura’s professional experience is in corporate human resources, sales and marketing, yet when her eldest son was diagnosed in 2009 with a mitochondrial disease, she was eager for a way to accelerate action. She has transferred her corporate business skills to non-profit leadership. Formerly, Laura served in senior human resources leadership roles at EarthLink and an Atlanta based technology start-up, EzGov, Inc.  Her early career experience evolved in executive search with Korn/Ferry International and sales and marketing in the paper and packaging industries both in Paris, France and the southeastern U.S. FMM website: www.hopeflies.org

Bill Wilkins, Co-Founder, Wilkins Parkinson’s Foundation
Wilkins Logo
Diagnosed with Parkinson’s in 2006, Bill Wilkins, Co-Founder of the Wilkins Parkinson’s Foundation knows firsthand about the disease and has worked tirelessly for treatment every since his diagnosis. In addition to his fundraising and advocacy efforts through the Wilkins Parkinson’s Foundation, he is also a charter member of Emory University’s Udall Parkinson’s Disease Research Center’s Community Outreach Board and serves on the Patient Advisory Council for the Michael J. Fox Foundation. The Wilkins Parkinson’s Foundation (WPF) is a 501(c)(3) charity dedicated to funding programs to raise awareness of Parkinson’s disease (PD). It is the Foundation’s belief that increased awareness creates a general groundswell of support for the entire PD community, from research to patient care to education and support groups. The Foundation works to build awareness through local, regional and national marketing efforts. To find out more, please visit www.wilkins-pf.org.

Moderator: Dr. Darria Long Gillespie, MD MBA FACEP, SVP Clinical Strategy Sharecare
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Darria Long Gillespie, MD MBA, FACEP, is Sharecare’s Senior Vice President of Clinical Strategy, an Emergency Department physician at Emory University, and national spokesperson for the American College of Emergency Physicians. Dr. Long Gillespie is a frequent health expert on national TV and has appeared on CNN, CNBC, FoxNews Network, and The Dr. Oz show. … MoreOn Sharecare, she contributes and authors articles on health topics and health news, writes “The Busy Woman’s Guide to Health…and Sanity”, and also hosts Sharecare Radio, an international radio show on iHeart Radio’s RadioMD. Sharecare website is www.sharecare.com

About the Foundation for Mitochondrial Medicine
The Foundation for Mitochondrial Medicine is a 501(c) (3) non-profit organization dedicated to supporting the development of the most promising research and treatments of the many forms of mitochondrial disease. Visit www.mitochondrialdiseases.org for more information.

 

April is Parkinson’s Awareness Month – Help Us Spread the Word!

Parkinson’s disease is a degenerative, movement disorder of the central nervous system that results from the loss of cells in various parts of the brain.

In part, this disease is caused by an energy loss from malfunctioning mitochondria.  Mitochondria, are the body’s energy factories.  Brain cells are energy hogs, making up about 2 percent of body weight, yet consuming about 20 percent of the body’s energy.

On Wednesday, April 6, 2016 the Foundation for Mitochondrial Medicine hosted a Hope Flies Health Series Webinar focused on the connections between Parkinson’s and Mitochondrial Disease.

Share this video with someone you know connected to Parkinson’s.

Parkinson’s disease

What is Parkinson’s disease?

Parkinson’s disease is a progressive, neurodegenerative movement disorder. It worsens over time, and it is caused by the degeneration of nerve cells in the brain. The most prominent symptoms of Parkinson’s disease affect movement, although many other symptoms may also occur, some of which can be even more disabling than the movement symptoms.

Prevalence:

1 in 500 people (CDC). An estimated 500,000 to 1 million people in the United States are living with Parkinson’s disease.

What is the role of mitochondrial dysfunction in Parkinson’s disease?

parkinsons-disease-webScientists have accrued a large body of evidence confirming that mitochondria play an important role in the development of Parkinson’s disease. The most prominent symptoms of Parkinson’s disease are muscle trembling and weakness, which then progress to muscle immobility. These symptoms are the result of a decline of dopamine in the brain, which occurs as a result of loss of neurons that produce this vital neurotransmitter.

 

Mutations to mitochondria directly affect a cell’s ability to make dopamine. Damaged mitochondria can negatively influence neurons – including those that produce dopamine – in many ways. For example, they can cause overproduction of free radicals that can damage the cells; they can affect calcium regulation within the cells and the intracellular spaces, which directly affects neuronal health; they can create problems with axonal transport (the way nerve cells communicate with each other); and they can cause cell death. All of these aspects can contribute to malfunction or death of dopamine-producing neurons.

Mutations to mitochondria can occur through exposure to environmental toxins, such as medications or pesticides, or they can occur as a result of genetics – both inherited and acquired mutations. To further complicate the interplay between mitochondria and Parkinson’s disease, pathways of disease can affect mitochondria directly, such as through direct genetic mutations, or indirectly, by affecting a substance upstream from the mitochondria that interferes with its normal functioning.

The economic impact of Parkinson’s disease is significant. The National Institute of Neurological Disorders and Stroke (NINDS) estimates that Parkinson’s disease carries an annual cost of over $5.6 billion to our society, including both direct medical expenses and indirect costs such as lost income, disability payments and medical costs.

Emerging Science

Parkinson’s disease (PD) is a common and disabling neurodegenerative disease marked by progressive motor dysfunction, which results from selective degeneration of the nigrostriatal pathway. Complex I defects may result in oxidative stress and increase the susceptibility of neurons to excitotoxic death. In this way, environmental exposures and mitochondrial dysfunction may interact and result in neurodegeneration.

Recent findings implicate mitochondrial dysfunction, oxidative damage, abnormal protein accumulation and protein phosphorylation as key molecular mechanisms compromising dopamine neuronal function and survival as the underlying cause of pathogenesis in both sporadic and familial PD.

Treatment research:

Mitochondrial dysfunction may not be the only cause of Parkinson’s disease, but interventions focused on improving mitochondrial function are showing positive progress. Several studies have been performed using agents that influence mitochondrial function, including the use of dopamine agonists (similar to dopamine) and Coenzyme Q10 to replace or boost the function of the patient’s mitochondria. Researchers also are exploring different avenues of treatment for individuals with Parkinson’s disease in which mitochondrial dysfunction has been noted. Current treatment relies on the replacement of dopamine. However, this does not reverse the loss of neurons or further progression of the disease. Researchers are targeting mitochondrial function as a way to alter this key component of the disease.

Sign up today to stay connected on research and information about the connection between Mitochondrial Diseases and related diseases.

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FMM Clinical and Research Program at UAB

How to Support the Forthcoming FMM Clinical and Research Program at the University of Alabama Birmingham (UAB)

FMM.UAB.GraphicIn September 2015, FMM announced a partnership with Seahorse Bioscience and the University of Alabama at Birmingham to create a comprehensive clinical program for the diagnosis of neuromuscular mitochondrial diseases using precision medicine models for monitoring therapeutic interventions.  The goals are to address the unmet clinical, diagnostic and therapeutic needs of the mitochondrial patient community.

We need your financial support to open the clinical and research program.  Our goal is to raise $250,000 by year end which will provide both the clinical physician resources, including the key Nurse Navigator role and the research program elements for clinical certification of the Bioenergetics Health Index, a non-invasive blood test assessing mitochondrial function.  This blood test has the potential to replace the traditional muscle biopsy and can also be applied to other neurodegenerative diseases, like Parkinson’s and Alzheimer’s, where mitochondrial dysfunction is a key contributor.

DONATE

 

Read more details about the FMM program at UAB below.

About UAB
UAB_WORDMARK
Known for its innovative and interdisciplinary approach to education at both the graduate and undergraduate levels, the University of Alabama at Birmingham is an internationally renowned research university and academic medical center, as well as Alabama’s largest employer, with some 23,000 employees, and has an annual economic impact exceeding $5 billion on the state. The five pillars of UAB’s mission include education, research, patient care, community service and economic development. UAB is a two-time recipient of the prestigious Center for Translational Science Award. Learn more at www.uab.edu.UAB: Knowledge that will change your world.

 About Seahorse Bioscience
Seahorse_Logo_cmyk
Seahorse Bioscience metabolic analyzers and stress test kits are the industry standard in cell metabolism measurements. Scientists worldwide are using Seahorse technology to advance their research in understanding neurodegeneration, aging, cancer, cardiovascular, cell physiology, toxicology, hepatobiology, immunology, infectious diseases, mitochondrial diseases, model organism, obesity, diabetes, metabolic disorders, screening, and translational medicine. Founded in 2001, Seahorse Bioscience is headquartered in Billerica, Massachusetts, U.S., and has regional offices in Copenhagen, Denmark, and Shanghai, China. Learn more about Seahorse Bioscience at www.seahorsebio.com.

#GAGivesDay 8: The Path to the Cures for Mitochondrial Diseases

The Path to Drug Development is a Long Hard Road

path to a cure - roadmap

Mitochondrial disease awareness is where Autism and Alzheimer’s were 25 years ago.  Drug development is in very early stages; currently there is no cure; only symptoms are treated.

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.

CLICK HERE to learn more about The Path to a Cure
and Mitochondrial Disease Research

Support for FMM means funding for treatment-oriented research projects like the one led by Netherlands Research Team and Dr. Jan Smeitink.

In 2011, FMM awarded a  $50,000 grant to Professor Jan Smeitink of the Netherlands for his research involving the development of new small molecule compounds to treat mitochondrial dysfunction. The aim of Smeitink’s three-year research project is to develop a novel therapy for the treatment of mitochondrial diseases, specifically targeting Leigh’s disease, MELAS, LHON and Friedrich’s Ataxia. In preliminary experiments, Smeitink and his research team provided proof that intervention aimed at these targets can restore or prevent the negative consequences of mitochondrial dysfunction at a cellular level. Smeitink aimed to generate new compounds directed at these novel drug targets with high efficacy, bioavailability and stability, and few side-effects. He tested new compounds for efficacy in unique cell-based and in vivo models for mitochondrial disease available at Khondrion and RUMCN. The best-performing new compounds were characterized for exact mode of action, and later resulted in new compounds available for clinical testing.

The Foundation’s 2011 grant enabled Smeitink to synthesize and test about 5 to 10 additional compound modifications and thereby increase the number of potential new medications.   Since then, the Khondrion library of drug compounds has expanded to more than 300 new chemical entities.  One of these compounds has recently been received favorably by the European Committee on Orphan Drugs and selected for further toxicology studies.  Next steps are projected entry into Clinical Trial Phase 1 in 2015.

Learn More about Research and Grant Projects

The Foundation for Mitochondrial Medicine is dedicated to supporting the most promising treatments for the many forms of mitochondrial disease.

We support treatment based research, 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. In addition to functional MRI brain studies on cognitive fatigue, our grants are allowing new drug compounds to be tested, eventually leading to full clinical drug trials. Your support means momentum to accelerate entry into clinical trial phases, which will in turn propel research faster toward the cures.

One cure, one timeline, simply does not exist
but with your help we will move forward faster.

You and your financial support can be the “energy source” and momentum for our mitochondria. This momentum will accelerate entry into the clinical trial phases, which will in turn propel mitochondrial disease research faster toward the cures.

DONATE

#GAGivesDay 5: Colby Wren, One of the MANY Faces of Mitochondrial Disease

Mitochondrial disease is a complex, underdiagnosed disease that may appear anytime – at birth, in the teen years or, as an adult. The disease can attack at any age and has links to other more familiar disorders: Autism, Parkinson’s, Alzheimer’s, Lou Gehrig’s disease (ALS), muscular dystrophy. 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.

Colby Wren {One Face, One Story}

Some of you may already know Colby from Hope Flies Home Run Challenge, Hope Flies with the Braves or even the special featured on CNN.

From the outside, you would never know that Colby has mitochondrial disease. When he practiced and played football games, he would get sick during and after each. Now that he’s been diagnosed, he knows mitochondrial disease is just something in his life he has had to learn to manage on a daily basis.

Colby and Fans at Hope Flies Home Run Challenge

Colby and Fans at Hope Flies Home Run Challenge

Physically, Colby was never in better shape than when I first started sports training. My body took the initial training really well, but after the first year it really took a toll. I began getting many of symptoms of mitochondrial disease, which I had neglected noticing.

Needless to say, when the season ended and he had the opportunity to rest, he did so freely. Checkups and blood work during the times of high activity had very negative numbers when it came to my mito metrics, but Colby noticed that other areas my body was thriving because he was in great shape. The same cycle occurred his second year playing baseball at Georgia Tech: get in great shape, hit a wall, and that year his grades hit an all-time low. Georgia Tech is challenging enough when you are just a student there, but when you are a student with incredible mental and physical fatigue, those calculus classes and science classes can be ruthless. Falling just under a 3.0 my freshman year, my sophomore year was very lackluster and I struggled to recall almost anything that I studied for. This is when I knew a change needed to occur.

Katie, Colby and Friends enjoyed the afternoon at Turner Field for Hope Flies with the Braves.

Katie, Colby and Friends enjoyed the afternoon at Turner Field for Hope Flies with the Braves.

If Colby was a baseball star with all of the talent in the world, he might have thought twice about the decision to stop playing baseball. Meeting with Dr. Shoffner during his last semester playing gave me some incredible insight. Colby’s body, though in shape, was not as healthy as he needed it to be. But when you’re given options to continue playing a few years versus being able to be healthy and active for your future generations it is a very simple decision. Colby immediately gave his body lots of rest and neglected his health, which was the most important in the long run.

Colby is currently an Ambassador for the Foundation for Mitochondrial Medicine and sharing his story daily to help us raise awareness and fuel connections.  Colby helped us launch the Hope Flies Home Run Challenge in 2012 and has been an active part of our Hope Flies events in the Atlanta area.

Colby has been an inspiration to many others affected by mitochondrial disease and even called a “hero” by one mito mom!

Share Colby’s Story with your network of friends to help us raise awareness and give hope to so many battling mitochondrial disease daily.

 

Consider supporting FMM and #GaGivesDay to make a difference!

DONATE

 

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