A young girl has a band-aid applied after receiving a vaccination.

rare disease clinical trials: Being informed about clinical research

By Melissa E. Daley, CISCRP

The biggest difference between common disease and rare disease clinical trials is “…probably the amount of people that can be enrolled in the trial,” says Dr. Jahannaz Dastgir, Director of Clinical Research, Applied Therapeutics and Lead Physician at Atlantic Health System’s Pediatric Neuromuscular Program. “With conditions like diabetes or heart disease, for example, you could have very large numbers of patients. In rare diseases, you would have a much smaller number, because there might be 20 cases of the condition, worldwide. You have to work out the statistics to make sure you have the right amount of data over the right amount of time to get the study to be statistically significant so that the drug can be approved.”

A disease or condition is classified as “rare” in the United States if it affects less than 200,000 individuals. This definition varies in other parts of the world. For example, in the European Union, a disease is defined as “rare” when less than 1 in 2,000 individuals are impacted. While there is no exact count, it’s estimated that there are approximately 7,000 rare disease effecting 25 to 30 million Americans (1) and over 300 million children and adults globally, roughly 3.5% to 5.9% of the population (2). Conducting clinical studies in the rare disease space to find safe and effective solutions is a collaborative effort by stakeholders in the clinical research enterprise including patients, patient advocates, product developers and medical research professionals.

“Our clinical trial journey really started with me having no knowledge of clinical trials,” recalls Jennifer McNary, a mother of four, rare disease patient advocate, educator and founder of One Rare, a nonprofit organization whose mission is to improve experiences for the rare disease community through education, mentoring and peer support. Jennifer’s connection to the rare disease community is particularly poignant.

“My three sons all live with rare diseases. My first two sons, are now 22 and 19, are living with Duchenne Muscular Dystrophy. I also have a third son living with 2 rare diseases, primary immune deficiency and congenital cholesteatoma. He is 13 years old. And I have a daughter who is healthy,” says Jennifer. When her two older sons were diagnosed as children, Jennifer was advised that “…there were no treatments, no therapies, there was nothing I could do and in fact, there were no clinical trials that we could think about enrolling in.” Jennifer took matters into her own hands and shares “I spent a lot of years raising money and funds for science and going to advocacy meetings.”

Jennifer also pursued clinical research as a healthcare option for her two older sons in hopes of changing the trajectory of their disease progression. Read more …