Pediatric Rare Disease Studies: Patient-Centric Approaches

Life Sciences, Clinical Trials, Patient Recruitment & Retention,
  • Wednesday, September 14, 2022

The phrase “patient-centricity” can mean many things but at heart it means designing a treatment, clinical trial, or other healthcare solution based on what the patient or their family needs or wants. For clinical researchers, it means making the clinical trial process the easiest and best it can be, from the patient or family’s perspective. A patient-centric approach should start at the time a study or trial is devised. Clinical trial design is one of the most important places to involve the patient voice. For pediatric rare disease natural history studies or therapeutic trials, it is especially important.

This is because trials and studies in rare and pediatric diseases typically have little or no previous track record in clinical research, so feedback from children, parents and patients is especially important, as they know more about the disease than anyone else.

Possible options include hosting patient groups, working with patient advocacy organizations, or analysing real-world evidence (assuming there is some), so that trial eligibility criteria reflect the patient population.


For pediatric rare disease studies/trials, the protocol requirements are very important to the family’s decision to participate in the study. In order to design a protocol attractive to pediatric patients and their family, it is important to have early engagement with appropriate patient-centricity groups such as youth advisory groups, who have access to input from affected families and often links with the key investigators. Of equal importance is the need to involve regulatory authorities at an early stage to obtain agreement on study design and endpoints, and to present feedback from patient centricity groups.

A common strategy to build clinical trial and disease awareness is to give the study an identity or brand. Carefully done, this can reflect some of the aspirations of the study. Developing a proactive recruitment strategy is essential to ensuring that the study patient profile is known to all colleagues and healthcare professionals who may potentially refer patients to participating study sites. A strong study image with a memorable name or logo is helpful for referring investigators. A study website with a section for referrals and a section for patients, social media outlets like Facebook and Twitter, may also assist patient recruitment and enrolment efforts.

It is important to recognize that participation in any clinical study can be stressful for families. Providing pediatric rare disease patients and their parents with detailed study information ahead of time will reduce anxiety and support a pleasant trial experience. A well thought out, customized patient/parent information which clearly specifies what procedures will be performed, how long they will take, and any discomfort that procedure may be caused is always a useful add-on to the consent process. This proactive approach to educating the families/patients provides a comfort level with their obligations and sets up realistic expectations for study participation.

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It is also important to realize that a pediatric research patient really needs family. Thought must be given toward the accommodation of the patient, parent(s) and siblings, even for a study of short duration. It is recommended to incorporate patient/family reimbursement into the study contract as well as ensuring participating site(s) have processes/infrastructure to minimize family burden by supporting a “family” during clinic visits.

Register to learn about undertaking patient-centric approaches in pediatric rare disease studies and clinical trials.


Scott Schliebner, TFS HealthScience

Scott Schliebner, Senior Vice President, Clinical Development Services Head of Rare Diseases and Orphan Drugs, TFS HealthScience

Scott Schliebner recently joined TFS as Senior Vice President, Clinical Development Services and Head of the Pediatric, Rare and Orphan Disease Business Unit. Based in the US, Scott has more than 25 years in clinical drug development, having worked across the biotech, non-profit, small CRO and large global CRO sectors.

Scott joined TFS following a decade at PRA Health Sciences (now ICON) where he developed and led several Centers of Excellence, including rare diseases, pediatrics, vaccines, gene therapy and federally funded research. Scott has an entrepreneurial mindset, coupled with an emphasis on patient-focused approaches to drug development, utilization of data and technology to accelerate clinical trials and a focus on innovation to bring new therapies to patients faster. Scott also serves on the Board of Directors for two rare disease-focused non-profit organizations — Uplifting Athletes and Angel Aid — and he serves as a Strategic Advisor for Jeeva Bioinformatics, Halo Health Systems and Atomic Medical Innovations. Scott holds a Master’s in Public Health (MPH) degree from the University of Utah School of Medicine.

Message Presenter
Alison Sampson, TFS HealthScience

Alison Sampson, PhD, Head of Rare Diseases and Orphan Drugs, Europe, TFS HealthScience

Dr. Alison Sampson has over 20 years of clinical research experience. She has a project management background, leading both clinical and cross-functional teams. Alison has experience in a wide variety of therapeutic areas, with expertise in rare diseases in neonates and adolescents.

Currently, Alison oversees clinical trials involving rare disease, pediatric patients or orphan drugs. Her department works with centers of excellence, patient groups and registries to promote study awareness. She has presented ideas for tailored recruitment strategies incorporating advertising and social media at therapeutic and rare disease congresses. She has developed significant expertise over the last few years using these strategies to boost recruitment and raise awareness in rare, pediatric and hidden patient populations.

Prior to entering clinical research, Alison studied chemistry and is a Chartered Scientist and a Fellow of the Royal Society of Chemistry.

Message Presenter

Who Should Attend?

VPs, Directors, Managers and Heads involved in:

  • Operations – Director/COO
  • Accounting
  • Clinical Development
  • Global Medical Affairs – Medical Advisor/Evidence Delivery
  • Rare Disease – Researcher/Patient Advocate
  • Patient Care & Innovation – Patient Support/Engagement
  • Scientific Consulting
  • Medical Quality
  • Patient Solutions
  • Healthcare Advocacy
  • Market Access Strategy
  • Medical Affairs – Medical Science Liaison/User Engagement
  • Project Management
  • Strategic Projects

What You Will Learn

  • Why patient-centricity is important in rare disease research
  • How the patient voice can be heard in protocol design
  • How to facilitate trial participation in rare disease

Xtalks Partner

TFS HealthScience

TFS HealthScience is a global Contract Research Organization (CRO) that supports biotechnology and pharmaceutical companies throughout their entire clinical development journey. In partnership with customers, we build solution-driven teams working for a healthier future. Bringing together nearly 700 professionals, TFS delivers tailored clinical research services in more than 40 countries and supports customers with comprehensive solutions through three strong business models: Clinical Development Services (CDS), which provides full-service support at all stages of the clinical development process, Strategic Resourcing Solutions (SRS), which offers expert insourcing and targeted recruitment services, and Functional Services (FSP), to provide customers with strategic workforce management solutions.

TFS demonstrates scientific and medical competence across populations and therapeutics, with industry-leading capabilities in:

  • Dermatology, Immunology and Inflammatory Diseases
  • Hematology and Oncology
  • Ophthalmology
  • Internal Medicine including Neuroscience & Respiratory
  • Pediatrics, Rare Diseases and Orphan Drugs
  • Real World Evidence

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