Happily living in New York City and working as a hospital administrator, life couldn’t have been better for 28-year-old Claire “Missy” Geisler – that is until mitochondrial disease changed everything.
Missy, who is now 49, was diagnosed 10 years ago with mitochondrial myopathy, a common disease in patients with a primary mitochondrial disorder.
Mitochondrial myopathy has slowly led to muscle loss, extraordinary fatigue and has essentially limited her ability to perform simple, daily activities. She can no longer work and relies on a walker to help her get around.
Now, for the first time in years, Missy has hope that she may one day go through her daily routine without extraordinary fatigue and do some of the things she has done before.
She is the first patient to enroll in a clinical trial for an investigational new drug called Bendavia from Stealth BioTherapeutics.
“This could be light at the end of my tunnel,” said Missy, who now lives in Florida near her parents but travels to Akron Children’s Hospital in Akron, Ohio,to take part in the clinical trial.
Missy is a patient of Dr. Bruce Cohen, a mitochondrial disease expert and clinical investigator in the Bendavia trial.
The mitochondria are the cell’s powerhouse, responsible for more than 90 percent of the energy our bodies need to sustain life and support growth.
“There are more than 270 orphan mitochondrial diseases and no FDA-approved treatments,” said Dr. Cohen, director of neurology at Akron Children’s. “The impact these diseases have on quality of life and patient health is very real.”
Dr. Cohen and other physicians worked closely with Stealth in developing the clinical protocol for the study.
Bendavia has been generally well tolerated in clinical trials to date and is being studied extensively by leading clinicians and researchers across the spectrum of disease related to mitochondrial dysfunction, including mitochondrial myopathy.
In non-clinical studies, the drug has been shown to modify mitochondrial dysfunction by treating the inner mitochondrial membranes and restoring cellular energetics and function.
Since it is a double-blind, placebo-controlled study, neither Dr. Cohen nor Missy will know if she has been assigned to receive Bendavia or a placebo.
“At least a drug is in development and I will have played a role, hopefully, in getting it approved and to patients who may need it,” she said.
Life before diagnosis
Missy grew up in New York and New Jersey and led a full, active life. She was an accomplished cross country skier and runner at Middlebury College and then went on to earn 2 master’s degrees from New York University in public administration and health studies.
The first signs of concern for Missy began with a slight tremor when she was around 13.
While in college, she began having night-time seizures, often causing her to fall out of bed. Her symptoms – more tremors, seizures and a loss of energy – progressed throughout her 20s.
She was hospitalized for days, and then weeks at time, and tested for a variety of conditions before being diagnosed with mitochondrial myopathy.
After first meeting Dr. Cohen at a United Mitochondrial Disease Foundation conference 3 years ago, Missy hoped he would be able to take her on as a patient and she was willing to travel to Akron for his expertise.
About the clinical trial
Akron Children’s is 1 of 4 hospitals participating in the Bendavia clinical trial and, on Feb. 23, Missy became the first patient with mitochondrial myopathy to enroll in the clinical trial.
Criteria for entering the study included having previously had a genetically confirmed diagnosis of primary mitochondrial disease and associated mitochondrial myopathy. Missy underwent various tests to assess her heart and lung function, including her endurance during a 6-minute “walk” test.
“We are focused on our orphan mitochondrial myopathy clinical program, and hope to provide patients with the first FDA-approved therapy for inherited mitochondrial diseases,” said John Campbell, senior director of clinical development for Stealth. “We’re very excited to begin this trial and evaluate Bendavia in this underserved patient population.”
The unique mechanism of Bendavia and the fact that mitochondrial myopathy plays an underlying role in many diseases, including heart failure, kidney disease and several ophthalmology disorders, gives it great potential as a new therapeutic drug.
Dr. Cohen says the Orphan Drug Act, which was passed by the U.S. Congress in 1983, has provided the encouragement for pharmaceutical companies to invest in the development of new treatments for rare, orphan diseases, which, by definition, affect fewer than 200,000 people in the United States.
“In general, I am an optimist,” Dr. Cohen said. “In addition to Bendavia, there are several other drugs being investigated right now. In my wildest dreams, I hope to have several safe, effective treatment options to offer my patients.”