The Good, the Bad, the Necessary in Rare Disease Studies

Clinical Trials, Life Sciences, Pharmaceutical, Pharmaceutical Regulation ,
  • June 08, 2017


Interest in the development of medicines to alleviate or cure rare diseases has increased due to (1) positive actions taken by global regulatory agencies; (2) advances in the understanding of disease pathophysiology; and (3) tools, such as exome and whole-genome sequencing, to produce more efficacious drugs. With rare diseases, the clinical data needed to support HTA or health insurer assessments are often weak because of the scarcity of study subjects. It is, therefore, essential to establish a robust integrated medical plan for drugs in development that clearly sets out not only the core development data required to prove safety and efficacy but also ensures that other evidence gaps are addressed.

To best achieve this, a clear understanding of why, where, when and how the drug will be used after approval is needed – Quite literally ‘begin with the end in mind’. Such a holistic approach will ensure a streamlined, evidence based development process that maximizes post approval activities matched to capture the full potential of the product. By anticipating the possible hurdles for the approval and reimbursement of any new rare disease treatment will ultimately lead to earlier access to those patients who may benefit due to a high unmet medical need.


In this webinar, we will discuss the why, where, when and how a rare disease drug is intended to be used subsequent to approval and the importance of beginning with the end in mind.



Cinzia Dorigo, PharmD, Executive Director, Clinical Development, INC Research

Cinzia has over 18 years of experience in clinical research, 14 of them in international project management. Ms. Dorigo is leading the INC Research Rare Disease Consortium focused on an effective strategic implementation for successful delivery of rare and ultra-rare disease studies. Ms. Dorigo has broad experience in rare and ultra-rare disease studies in Metabolic, Endocrine, and Cardiovascular indications. In the context of these studies, she oversaw many pediatric trials including pediatric intensive care studies. Her experience includes pre-clinical, healthy volunteer, and Phase 1 to Phase 4 studies. She has proven experience in successfully delivering these studies through the development of tailored strategies in single geographic regions and in global settings. Ms. Dorigo is a neuropharmacologist by background.  Her therapeutic areas experience includes Infectious diseases, Cardiovascular, Metabolic, Endocrinology, Gastrointestinal, Oncology, Respiratory, and CNS.

Alastair MacDonald, Executive Director, Real World & Late Phase, INC Research

Executive Director, Real World & Late Phase, has 25 years of experience in the biopharmaceutical development sector. Prior to joining INC, he was Global Delivery Director for Medical Evidence and Observational Research at Astra Zeneca with responsibility for the generation of evidence in both pre- and post-approval drugs required supporting core clinical development programs and preparing for reimbursement.

Heather Medlin, Executive Director, Real World & Late Phase, INC Research

Heather Medlin has more than 19 years of experience in the CRO industry predominantly in the Real World & Late phase, medical device, and the diagnostics arena. Heather has led global project management teams in the conduct of large global programs with a focus on Rare Disease, Women’s Health and long-term safety surveillance programs. Her prior experience working in the public health arena and hospital settings (Intensive Care and Emergency Department) has enabled her to understand the perspective of patients, health care professionals, and industry professionals. Heather Medlin brings operational and subject matter expertise to supporting clients in the development of their Real World strategy and delivery.

Who Should Attend?

Senior professionals from biopharmaceutical companies working on rare disease compounds. Relevant job functions include:

  • Research & Development
  • Clinical Affairs
  • Clinical Research
  • Clinical Pharmacology
  • Clinical Operations
  • Medical Affairs
  • Project Management
  • Regulatory Affairs

Xtalks Partners

INC research

INC Research (Nasdaq:INCR) is a leading global contract research organization (“CRO”) providing the full range of Phase I to Phase IV clinical development services for the biopharmaceutical and medical device industries. Leveraging the breadth of our service offerings and the depth of our therapeutic expertise across multiple patient populations, INC Research connects customers, clinical research sites and patients to accelerate the delivery of new medicines to market. The Company was named “Best Contract Research Organization” in December 2015 by an independent panel for Scrip Intelligence, and ranked “Top CRO to Work With” among large global CROs in the 2015 CenterWatch Global Investigative Site Relationship Survey. INC Research is headquartered in Raleigh, NC, with operations across six continents and experience spanning more than 110 countries.

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