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Understanding Drug Development - Why it Takes So Long & Costs So Much Money: A Four Part Series

Updated: Nov 2, 2021

Part 4: Fueling the Drug Development Engine

Thanks for hanging in there, we’re almost to the end! We’ve covered the history of drug development, the institutions responsible for making it happen, and the cost and steps necessary for developing a treatment.

What Didn’t You Cover in This Crazy-Long Series?

Gene therapy and protein replacement therapy are relatively new techniques still in development. They offer an opportunity to correct the disease at the source, thereby stopping disease progression. While this type of treatment offers the most hope, it is still mired in a number of variables that have yet to be resolved. We’ll cover this topic in greater detail in a later post.

Phase 2 & 3 Randomized, double-blind, placebo-controlled trials (RDBPC) are considered the gold standard in the evaluation of safety and efficacy for a new treatment. There has been a great deal of controversy over the ethics in conducting such trials in a community with no current treatment options, and an extremely small recruitment pool. However, the reality is that any CMD trial not designed with a placebo-control group has a very real chance of failing to meet regulatory requirements for approval. “Placebo-controlled trials can answer very important questions about whether the treatment is having the proposed effect. It can highlight when a drug is having a strong effect or help it fail faster,” says Jodi Wolff. It removes bias - both on the part of trial participants and trial administrators - and provides solid evidence on efficacy, one way or the other. In CMD, we continue to wrestle with this consideration. Can natural history data be used in place of placebo-controlled trials? Is there a biomarker that could provide an absolute and significant objective measure, reducing or eliminating the need for placebo-control? For now, in CMD, the realistic answer is no. The good news is that most placebo-controlled trials do eventually make the treatment available to all participants toward the end of the trial.

The cost for treatment. As we’ve reviewed each stage of the drug development process, we’ve noted the approximate cost for each. And as mentioned above, despite the incentives provided for in the Orphan Drug Act, the pharmaceutical company sponsoring the treatment must invest an enormous sum and still make a return on their investment. This means that in rare diseases, the cost per treatment will be exponentially higher than treatments for more common diseases like diabetes, simply because there are fewer patients to spread the cost over. It is in the sponsor’s best interest to lobby insurance companies and the government to help cover the cost of these treatments, the primary argument being that over an untreated affected individual’s lifetime, the cost for ongoing care management will well exceed the cost of the treatment. This continues to be a hotly contested topic in the rare disease community.

Off-label use. A treatment is considered off-label if it has been approved to treat a different condition. Off-label prescriptions are common, comprising one in five prescriptions written. It is important to note that by definition, off-label treatments are not guaranteed to be effective in treating the disease. The CMD research community has conducted a few studies on the use of an off-label treatment for CMD.


Whew! Drug development is indeed a long and expensive process! We are so grateful to the researchers and clinicians who have committed their careers to the development of treatments for CMD, and for industry companies like Santhera and Prothelia who are willing to take a risk on our tiny community to bring those treatments to market. For the first time ever, we have a realistic hope of achieving our goal in this decade. The research community appreciates the urgency we feel in watching other neuromuscular disorders get closer to the finish line, and in watching our loved ones’ declining health. They are working hard to get us there, but they need our help.

What Can I Do to Help CMD Make It to the Drug Development Finish Line?

Make sure you are registered in the Congenital Muscle Disease International Registry (CMDIR). Getting a better handle on the number of people affected by CMD is a top priority in order to gain pharmaceutical involvement. The CMDIR will also be the primary source of recruitment for clinical studies and trials in CMD. So if you want to participate in a future trial, please register! Some exciting news: Cure CMD is currently working on a massive platform upgrade for the CMDIR to make it more user friendly and to position us to better support CMD drug development. Stay tuned for more news on the new CMDIR platform in the coming weeks.

Become an advocate for the CMD community. Your voice matters -- to friends, family, schools, doctors, government representatives, and perhaps most importantly, with one another. More awareness means more interest. More interest means more progress. Cure CMD has a robust advocacy team who is putting together their plans for 2020 and beyond. Check out last year’s activities.

Donate blood or tissue to the CMD BioBank or Tissue Repository. Researchers need biospecimens from affected individuals and their family members to advance to the next stage of drug development. Learn more.

Consider participating in a natural history study or clinical trial when the call for participants goes out. One of the most significant barriers to completing clinical trials in CMD is the difficulty in completing recruitment. There is no doubt that study or trial participation is a sacrifice for the affected individual and their family. And, participation may often have no tangible, immediate benefit to the participant. But, we cannot advance toward treatments without fully recruiting our natural history studies and clinical trials. Full support and participation by the CMD community is critical to our success.

Fundraise. Every dollar counts on the path to clinical trials, especially in rare disease where much of the (financial) heavy lifting falls to patient advocacy organizations like Cure CMD, and the communities who support them. While the final stages of drug development will almost certainly be funded by the pharmaceutical industry, we have to get there first! Cure CMD exists to fund research and programming to advance the congenital muscular dystrophies toward treatments and a cure. We’re also here to help you plan your fundraiser, so if you’re not sure how to take that first step, get in touch!

a cure is among us.


Many thanks to Gustavo Dziewczpolski, Terry Selucky, Rob Sunris, and Jodi Wolff for their insights and review.

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