There are more than 5,000 diseases designated as “orphan” because there are so few “sufferers that most pharmaceutical companies are reluctant to invest in cures.” One individual who understands that fate in a very unique way is Dr. Stephane Huberty.
Dr. Huberty, a 48-year-old Belgian doctor, has been suffering from myasthenia gravis, a rare neurological condition, for the past 14 years. As the Wall Street Journal explained, the disease affects one in 5,000 people, and is a dysfunction of the immune system, otherwise known as an autoimmune disorder. Myasthenia sufferers produce antibodies that block muscles’ ability to receive nerve signals from the brain.
While there is no proven cure for myasthenia, it can be kept under control with a mix of Mestinon (a drug related to toxic nerve gas), surgery, steroids and other drugs. Treatment costs around $30,000 a year. Like with diabetes, the drugs usually require constant scheduling, and patients have to build their lives around the illness. Consequently, Dr. Huberty has been taking medication he and others developed, but he can’t find investors to pay for a clinical trial because pharmaceutical companies and other doctors say his product is unproven.
In fact, Dr. Huberty decided to take “a leaf out of 19th-century science and use himself as a guinea pig,” when in late May this year, he inserted a needle into his upper arm and injected himself with a cloudy white vaccine previously tested only on rats and dogs. After the injection Dr. Huberty told WSJ that he feels better, and that the drug hasn’t produced any nasty side effects. Those, he says, are “good signs that we should begin a professional clinical trial on a sufficient number of patients.”
For many patients, “taking unapproved drugs is also the last resort for those who are desperate to get access to new biological, stem-cell and vaccine technologies that are being invented much faster than regulators can certify them.”
One of the difficulties in finding “orphan drugs” is a consequence of the “laborious FDA approval process that requires drug developers to conduct four phases of trials, involving thousands of patients, which can take as long as 10 years to get a drug approved.” As one FDA spokeswoman pointed out, the agency has to be “convinced the product is safe and effective.”
Many scientists say this standard has become more thorough and demanding over the past two decades, as safety standards “have ratcheted upward,” increasing the number of patients on which a prospective drug must be tested from thousands to tens of thousands. The regulatory burden has also created a $24 billion industry world-wide in conducting medical trials, which “has made bringing a drug to market even more expensive and means many possible cures never secure the investment needed to overcome this hurdle.” And while FDA has made some progress in speeding up the approval of orphan drugs, getting them to the market is another hurdle.
To overcome these obstacles, Dr. Huberty took matters into his own hands, similar to a previous story we covered. He began reading medical papers and came across a work by J. Edwin Blalock, a professor of medicine at the University of Alabama at Birmingham. Dr. Blalock “conceived a vaccine in the late 1980s that attacks the lymphocytes that produce auto-antibodies, and he theorized the vaccine might be able to cure autoimmune diseases.”
In the 1990s, Dr. Blalock then tested the vaccine on lab rats in which he caused myasthenia. Despite having his research funded by the U.S. Muscular Dystrophy Association and the National Institutes of Health, “he couldn’t interest any companies in trying to develop and test the vaccine on humans.”
Consequently, after an initial meeting, Dr. Huberty made an offer to Dr. Blalock in 2001 to set up a company that would buy the patent for the vaccine, and to go into business together. The company, Curavac, would try to bring a cure for myasthenia to market. After establishing the company, Dr. Huberty “set about finding investors.” Eventually he was able to raise more than $1.5 million. With this funding, Dr. Huberty “hired experts in the field and outsourced the manufacturing work to a certified contracting lab in Marseille, France. After all their hard work, the drug was ready for clinical testing last year but, it would take another €5 million and a couple of years before this could begin.
Without any luck getting money from major biopharmaceutical companies, “Dr. Huberty decided he couldn’t wait. Between June and August of last summer, he injected himself three times and felt cured. “He was able to swim, go for long walks and even ski. His nanomole-per-liter antibody count, a traditional measure of myasthenia gravis, fell to near normal levels, according to independent hospital records reviewed by The Wall Street Journal.” Even following a relapse, “he re-injected himself with a dose six times as strong as before, and now feels better again.”
But Dr. Huberty says “it will take €20 million and up to 10 years of clinical trials before he can sell the drug on the market.” He maintains that the “market is there” because there are 200,000 myasthenia sufferers and 15,000 diagnosed each year in Europe, the U.S. and Japan. Part of the problem getting funding, in his opinion, is that companies are not interested in curing a disease.
Once approved, “he plans to sell the cure—most likely three to five injections, possibly with a booster injection a few years later, he says—for $30,000 apiece, the same as the cost of one year of conventional treatment.”
Ultimately, with numerous orphan diseases not receiving adequate attention or funding, Dr. Huberty’s story demonstrates the length at which individuals must go not only to save their own life, but others as well. While the financial support may not be available now, Dr. Hubert is “ready to do whatever it takes to help sufferers of myasthenia gravis.”