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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.

50% children

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

  1. COLLABORATE - To begin with, researchers must think strategically about how to engage with physicians, and patient advocacy groups as they design their trials. In most cases, there are only a handful of experts treating patients for a specific rare disease, so getting them on board as stewards of your trial has to be a top priority – otherwise the trial may face costly recruiting delays. Likewise, patient advocacy groups also can be a strong voice in fostering conversations about potential trial participation.

  2. IMPROVE CLINICAL TRIAL DESIGN - Researchers must also address the risk/benefit scenario that parents will consider when deciding whether to involve their child in a trial. Even if families are aware of trial, and encouraged to consider participation by their pediatrician or patient community, they are less likely to participate if they think their child’s care will suffer. Placebo designs are especially challenging and require careful discussion and a thorough understanding on the part of the patient or family.  Often times, these designs compare standard of care versus the study drug which allows the patient usual and customary care if they are randomized to placebo and not a withdrawal of therapy.  A conversation with the study physician and the families/patients can clarify the subtleties of the design and address any concerns.  Additionally, less common design can be considered such as crossover trials that allow patients to serve as their own control. This shifts the value proposition making participation more palatable to parents. Such trials may require early communication with regulators to be sure the design meets their requirements. Early collaboration and buy-in to these designs could serve to enhance interest and participation by patients and families yielding successful trial completion and viable data leading to new therapies.

  3. LEVERAGE REGISTRIES - Finally, patient registries are a vital part of this process, for researchers, patient groups, and regulators. Registries provide these groups with a way to gather and review data about the disorder, and to create a database of patients who might be candidates for current and future trials. The National Organization for Rare Disorders (NORD) argues that patient registries should be recognized as a global priority in the field of rare diseases as they support “fundamental clinical and epidemiological research, and post-marketing surveillance of orphan drugs and treatments used off-label.”

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.

Topics in this blog post: Rare Diseases, Biopharma