Despite the term “rare”, rare diseases collectively affect an estimated 300 million people worldwide and present significant clinical development challenges. At the same time, advances in therapeutic science, innovative trial designs, and evolving regulatory frameworks continue to reshape the rare disease landscape. Beyond the science, rare disease research is deeply personal, offering hope to patients and families who often have few or no approved treatment options.
In this Q&A series, we spotlight the experts behind our rare disease clinical trials, exploring their career journeys and perspectives on the evolving rare disease landscape. In this edition, we sat down with Lauren Shannon, MSN, APRN, CNP-AC, Advanced Clinical Practitioner, to discuss her experience and the role that Medpace plays in advancing innovative rare disease therapies.
Tell us about your background. How does your prior experience translate to your rare disease work at Medpace?
Prior to joining Medpace, I worked as a registered nurse and later as a nurse practitioner at a leading academic hospital that cared for patients from all around the world seeking treatment. As a nurse practitioner, I cared for medically complex children—and some adults—in the inpatient setting. A large part of my role was coordination of care across multiple specialists, advocating for the patient and family, providing education, arranging follow-up appointments, and preparing for often complex discharges. In the context of clinical trials, these skills translate into providing disease related education to the study team, ensuring protocol adherence, managing visit schedules, and anticipating any potential protocol concerns for families such as lengthy visits or excessive lab draws—especially in pediatric populations.
As a clinician, I quickly learned that “typical” does not always apply. Baseline labs may be abnormal, symptoms can fluctuate unpredictably, and disease progression does not always follow a standard path. I also recognized that caregivers, parents, and families are often experts in their loved one’s condition. A subtle change in behavior, function, vital signs, or labs may indicate safety concerns or clinically meaningful improvement. In clinical trials, these subtle shifts can be important for safety, data integrity, and investigational product efficacy.
What initially drew you to Medpace? What sets Medpace apart from other rare disease CROs?
Joining Medpace was an exciting change for me. Clinical practice and research share an underlying purpose, particularly in rare diseases, where progress can often feel slow moving and can be incremental, yet profoundly meaningful. Transitioning from treating individual patients to contributing to life altering and potentially life-saving treatments expands that impact and offers hope to families who often have very few treatment options.
Medpace’s integrated team of Advanced Clinical Practitioners (ACPs) are unique in the industry and brings a valuable perspective to clinical development. By working closely with medical monitors, clinical operations, and Sponsors, ACPs leverage their “boots on the ground” experience to bridge the gap between scientific aspects of a trial and the participant’s clinical experience. This integrated approach helps to improve participant retention, protocol adherence, and overall study quality.
What motivates you and your interest in clinical research – specifically in rare diseases?
Working as a registered nurse and then as a nurse practitioner, I had the opportunity to see firsthand how diseases impact so many different aspects of life. Clinically, I worked with medically complex children and some adults who were often hospitalized for months or even years while managing disease complications. Often families travel long distances, miss work/school, and frequently leave siblings or spouses at home.
Families often experience feelings of anxiety, helplessness, and loss of control when not at the hospital with their loved one. When away from the hospital, there are often strains on marriages, difficulty balancing needs and time spent with siblings, and disruptions in family routines. Caregivers also may experience fatigue from long hours at the hospital, poor nutrition, lack of exercise, and increased risk of stress-related health problems. Siblings may experience feelings of jealousy, guilt, worry, or neglect, which could manifest as behavioral, emotional, or academic difficulties.
In my role as an ACP in clinical drug trials, my goal is to reduce the family, caregiver, and treatment burden to ensure both a successful trial and patient/family satisfaction. Being part of research that advances therapies for rare diseases provides an opportunity to bring hope to families today while potentially changing the trajectory of care for patients in the future.
You bring a unique perspective from your experience as a nurse practitioner. Can you share some key considerations when conducting rare disease clinical trials?
Rare disease clinical trials are unique in that the objectives and endpoints are often different than other therapeutic areas due to small patient population and limited natural history data. While traditional trials often focus on clearly defined objectives with well-defined endpoints, rare disease studies often incorporate more exploratory goals, including safety, pharmacokinetics, and clinical effect on relevant clinical outcomes of disease.
Endpoints in rare disease trials are often less standardized and may include functional assessments and patient/caregiver reported outcomes. Because large studies are often not feasible, rare disease trials place greater emphasis on clinically meaningful change. Clinical evaluator protocol education and consistency are key to study success. Equally important is caregiver education and protocol adherence. As highlighted throughout this blog, families play an essential role in the care of their loved one living with a rare disease, and they remain an integral part throughout the clinical trial journey.
Medpace is a Leading Rare Disease CRO
Rare disease clinical trials present unique challenges in trial design, regulatory strategy, site selection, patient enrollment, and project management. Successfully navigating these complexities requires a highly experienced, full-service CRO with innovative strategies to identify and engage sites and scarce patient populations, and with expertise in site and project management to achieve study aims.
Accelerate your rare disease trial with Medpace’s cross-functional team of experts, who leverage innovative study approaches and strong site relationships to support efficient trial execution.
