Verve Therapeutics CEO SekarKathiresan, M.D./Courtesy Companyleaders.org
The United States healthcare system is notoriously complex. A survey from a self-funded health plan administrator concluded that 70% of 1,000 respondents found todays healthcare system difficult to navigate.
Under these circumstances, medical advocacy becomes necessary, especially when patients and families are suffering from little understood or even unknown conditions. Some rely on professional patient advocates as they muddle through the perplexing medical system.
Others, such as Doug Lindsay, take rare disease treatment into their own hands. As told in this CNN article, an unknown disease kept Lindsay bedridden for nearly 20 hours a day over the course of 11 years. No doctors or treatments were able to help him.
The mysterious ailment ran in Lindsays family, with his aunt and mother suffering similar symptoms. He used the information that his mothers condition was thought to be thyroid-related as a jumping-off point for his own intensive research.
After scrounging the web and tearing through textbooks, he learned that adrenal disorders can look similar to thyroid disorders, and was eventually able to hypothesize that a wide range of unknown autonomic nervous-system disorders exists.
Lindsay painstakingly traveled to the American Autonomic Societys annual conference in Hilton Head, South Carolina, purchasing an entire row of airline tickets so that he could lay across the seats with the help of friends. Dr. H. Cecil Coghlan was interested in the presentation Lindsay gave, finding that his theories had merit.
Over the course of years, Coghlan helped Lindsay repurpose drugs for treatment. He theorized that he may have an adrenal tumor that was causing increased adrenaline in his blood.
When the scans repeatedly came back negative, however, Lindsay went back to researching. He was able to suggest that something in his adrenal gland was mirroring the effects of a tumor. This information allowed Coghlan to diagnose him with bilateral adrenal medullary hyperplasia, a condition with a mere 32 recorded cases that was causing his enlarged medullas to function as tumors.
When Lindsay found no available surgeries for his condition, he resolved to create his own. Referring to records of successful adrenal medullectomies that were completed on rats, cats and dogs, he created an extensive proposal for the procedure to be done on the first human candidate: himself.
Ultimately, he was able to have both adrenal medullas extracted successfully. He gradually regained his strength, his ability to walk, and his life.
Today, Lindsay gives speeches and works as a personal medical consultant. When I got my health and it settled down, I went on vacation to the Bahamas. I saw the ocean for the first time," he quoted in a TEDx talk. "And then I went for a walk on the beach."
Another personal story of medical advocacy was shared with BioSpace by Sekar Kathiresan. When his brother unexpectedly died from a heart attack, he changed the course of his life to found a company with a novel medicine that may prevent them.
From the early 2000s, Kathiresan was practicing clinical cardiology and researching the genetic basis of heart attacks, particularly in the younger patient population. His research concluded that a particular series of genetic mutations could be increasing the risk of heart attacks.
In 2012, he suffered an immense personal tragedy. His older brother Senthil, a healthy 42-year-old with high cholesterol, came home from a run one day and collapsed. EMTs attempted to resuscitate him. He was rushed to the hospital, where they confirmed that he was in the midst of a heart attack. Senthil suffered from an anoxic brain injury and never woke up.
This was a dramatic and tragic outcome. For me, besides the grief myself and my family suffered, it made me redouble my commitment to this disease. My work shifted focus from purely trying to understand why some people have heart attacks at young ages, and moved into finding treatments, making sure that what happened to my brother doesnt happen to others, Kathiresan said.
The genetic research of Kathiresan and others had discovered eight genes with properties that were naturally resistant to heart attacks. Simultaneously, the gene editing field as a whole shifted when CRISPR/Cas9 was invented in 2012.
At the time, Kathiresan shared a lab floor with Feng Zhang. They worked together in an effort to gain a grant from the American Heart Association regarding a cure for heart disease. We came up with this idea of pairing the genetic discoveries that we made around resistance with gene editing. The idea was to develop a medicine that would mimic the natural resistance to heart attacks that some people carried.
Though they didnt win the grant, Kathiresan eventually built Verve Therapeutics around the idea. We are a biotech company developing gene medicine to treat cardiovascular disease. Our medicines intent is to permanently lower cholesterol after a single treatment, he said.
The companys lead candidate, VERVE-101, targets the PCSK9 gene. This is a gene that normally raises blood LDL cholesterol. We are looking to turn off the disease-causing gene permanently. There are humans walking around who have that naturally. They have lifelong low levels of LDL cholesterol. Were looking to mimic this.
The product showed promising preclinical results in monkeys. Blood levels of PCSK9 protein were reduced by 89%, and blood levels of LDL-C were reduced by 59%. They followed the monkeys for 18 months to determine the products durability. Its a life-long effect, said Kathiresan.
Up next, Verve hopes to introduce the medicine in a human population. We are guiding and anticipating the milestone of treating our first patients with this medicine in the second half of this year, he said. Theyve submitted their data package, with a series of studies to evaluate the efficacy and safety of the medicine in cells, mice and monkeys, to regulators in the U.S. and elsewhere. This will lead to clinical data in 2023, evaluating the safety and efficacy of the medicine in people.
Kathiresan is motivated by the clear understanding that if ones LDL cholesterol is low lifelong, its very hard to get a heart attack. This is the answer to heart attacks.
The Ryan Foundation was founded by another family who advocated for a medical solution. Mark and Jeanne Dants son Ryan has Mucopolysacharidosis (MPS 1). The almost always fatal rare genetic disorder is caused by a lack of enzymes needed to break down complex sugars, and can result in learning difficulties, skeletal abnormalities, carpal tunnel syndrome, vocal cord and tongue enlargement, vision loss and declines in intellectual function.
The Dants were told that their son wouldnt live past the age of ten. Not only was there no existing cure for MPS 1, but no one was even researching the rare disease. The family refused to accept this outcome, and kicked off their personal fundraising with a bake sale that made $342.
As their mission gradually gained awareness and funding, the Dants sought partnership with a researcher. They met Emil Kakkis, a UCLA scientist researching MPS 1, who had a theory that the disease could be treated with a synthetic form of the missing enzyme.
With funding from the Ryan Foundation, Kakkis and his team created ALDURAZYME. Ryan received the synthetic enzyme therapy in the first clinical trial, and is now the therapys longest treated person in the world.
Ryan made massive improvements through this and other treatments. In 2017, he graduated from the University of Louisville with a Bachelors Degree, having majored in Sports Administration.
Kakkis went on to found Ultragenyx, a company that brings novel therapies to rare genetic diseases. The Ryan Foundations website quotes that Ryan is continuing to work his plan for a positive tomorrow and once again has a full vocabulary...and a full life ahead of him.
Kathiresan said that medical advocacy is important because its all about solving problems. We are looking to solve the leading cause of death in the world: heart attacks. Men and women from nearly every country are affected. It remains the leading cause of death globally despite advances. To solve such a big challenge, you need advocacy from patients, family members, physicians and people providing healthcare. Overall, he reminds that making a drug that works requires a lot of advocacy.
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Medical Advocacy and Ingenuity of the Human Spirit is Curing Disease - BioSpace
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