Kids Talk on Rare Disease Day
By: Cynthia Jackson, DO | February 20, 2015
February 28 is Rare Disease Day – a day when we focus on the plight of the thousands of people who live with rare diseases. Paradoxically, the greatest proportion of the population suffering from rare diseases are children. There are approximately 7,000 rare diseases identified in the United States, and about 80 percent of these diseases are genetic – meaning people spend their entire lives dealing with the disease.
As a result, it is estimated that half of all rare diseases affect children. It is interesting to note that although individual rare diseases are uncommon, collectively they affect more children and families than most people realize and my family is no exception. My 5-year old nephew suffers from Idiopathic Pulmonary Hypertension diagnosed when he was 4 months old. He has benefited significantly from medications that had been previously studied in pediatric clinical trials but the overall impact to his and his family’s lives cannot be understated.
Thus, when we talk about research aimed at patients with rare diseases, we need to spend time talking about the unique needs of pediatric patients and their families who will certainly make up a significant portion of trial participants. Pediatric patients add challenges over and above those researchers face when designing trials to address rare diseases. Unlike adult-only trials, recruiting children for clinical trials in general is more complex and must take into account the needs of the child as well as the parents and family. Some of those factors include distance to the trial site involving travel and overnight stays, number of trial mandated visit, number and frequency of blood draws, length of study visits and other procedures which may involve anesthesia. Although these considerations are also important with adult-only trials, the logistics of family involvement require a different thought process.
As an industry we must not let these obstacles slow us down. Instead, we need to be more strategic in the way we plan for, design and ultimately execute these trials. Central to all of this is to effectively engage with the patients and their families in the early planning process. Leveraging patient and family communities will only improve the overall strategy and ultimate success of the trial.
Start with the stakeholders
Although you can’t eliminate the challenges of recruiting pediatric patients for rare disease clinical trials, a little up-front planning keeping the patients and families in the loop along with cross- collaboration can help overcome many of the biggest obstacles. After all, the ultimate goal is to develop new medications based on good trial data, which could have life altering consequences for patients and families dealing with rare conditions.