Part 1: How Did We Get Here?
What is Drug Development?
Drug Development is the process by which potential treatments discovered in a research laboratory become approved treatments for affected individuals. The process is long and expensive, and never guaranteed to result in bringing a treatment to market. Understandably, the CMD community is eager to see this process accelerated, especially in light of recent press about treatments for other neuromuscular conditions.
Drug Development in Rare Disease
To further complicate matters, rare disease is in a category all its own. While there have been about 7,000 rare diseases identified, affecting 400 million people, the distinctiveness and low prevalence of an individual rare disease sometimes makes justifying the necessary resources in bringing a treatment to market especially difficult. Fortunately, there are incentives to attract researchers and industry into the rare disease space. So even diseases as ultra-rare as CMD have a path to treatments.
So What Does a Treatment for CMD Look Like?
Cure CMD believes that, in all likelihood, treatment will be a multi-faceted approach. Protein replacement therapies or ideally, gene therapies, will “fix” the problem at its core, but will not repair the damage already done, especially in older or more severely affected individuals. Accompanying therapies like anti-apoptotic treatments (apoptosis is the process of programmed cell death) and antifibrotic therapy (fibrosis is the process of replacing lost muscle by non-elastic scar tissue), among other treatments will be necessary to help restore functionality. It’s complicated, but we can finally see all of these treatments just over the horizon.
So, what is involved in bringing a treatment to market and how much does it actually cost?
First, let’s talk about why this process is so onerous.
A History of Bad Behavior
Humans have a history of abusing one another in the experimentation of new treatments. Perhaps the most famous example of this is the Tuskegee Experiments, a U.S. government-sanctioned clinical trial that recruited hundreds of African American men, two-thirds who had been diagnosed with syphilis and one-third who did not have the disease, who were told they would receive free medical care. In fact, they were never given adequate treatment, nor were they ever fully informed about the purpose of the study. Many suffered, many died, and many passed on their disease to spouses and newborn children.
Another infamous moment in history was the end of World War II where atrocities conducted in Nazi prison camps were exposed, resulting in the compilation of the Nuremberg Code; a set of research ethics principles designed for guiding human experimentation.
We also have a history of making false claims about a product’s effectiveness in curing an ailment. In the age of patent medicines, from 1860 to 1920, our doctor’s bags, stores, and streets were rampant with remedies purported to cure just about anything. There was no proof that the claims were true, and no regulations requiring that these cure-alls be safe or effective. Methamphetamine was used as an antidepressant, cocaine was an ingredient in Coca-Cola, and heroin was prescribed for a wide variety of ailments, including soothing children’s coughs.
Until the 20th century, there were virtually no regulations on the content and sale of pharmaceuticals, or the ethical treatment of clinical trial participants. Two types of regulatory bodies were formed as a result of this long history of bad behavior: the Federal Drug Administration in the U.S. (along with other agencies such as the European Medicines Agency and Japan’s Pharmaceuticals and Medical Devices Agency), and an ethics review body called an Institutional Review Board.
The U.S. Food and Drug Administration (FDA), like its international regulatory counterparts, is responsible for protecting public health by ensuring the safety, efficacy, and security of human and veterinary drugs, biological products, and medical devices; and by ensuring the safety of our food supply, cosmetics, and products that emit radiation. Today, no treatment -- whether prescription or over-the-counter -- may be legally offered in the United States without the FDA’s approval.
An Institutional Review Board (IRB) is a panel of individuals with expertise in ethics, law, medicine, and research. The IRB serves as an objective third party, governed by federal regulations and providing oversight with the purpose of protecting human and animal research subjects. They ensure that only ethical and scientifically valid research is conducted, and that the study participant’s safety is the first priority. Most IRB’s are affiliated with universities and healthcare institutions (where researchers also tend to be found), but they also exist in the commercial sector to provide oversight for non-academic studies and trials.
Together, these two bodies ensure that treatments, and the research that discovered them, lead to safe practices and viable products. But as you can imagine, in a world of over 100,000 diseases and hundreds of Investigational New Drug (IND) applications received by the FDA each year, the path to treatments is fraught with failures, delays, bureaucracy and high costs.
In Part 2, we’ll dive into Drug Development, Step by Step.