Accelerating Rare Disease and Orphan Drug Development: Opportunities for Biomarkers, Diagnostics & Patient Engagement

Rare diseases affect more than 350 million people worldwide but patients often face limited Covance Labs Rare and Orphan Drug Development. Photo of DNA Strandoptions for approved therapies. As a result, many patients have joined advocacy groups first and foremost to connect with others struggling with their rare disease, but also to promote research, unite multiple stakeholders and stimulate new possibilities in the therapeutic pipeline. Research and orphan drug development efforts are starting to follow suit by increasingly incorporating patients’ needs and examining potential outcomes.

Addressing clinical challenges in rare disease and orphan drug development

With government-driven financial incentives, advances in genomic technology to identify promising targets for drug development, increasingly organized patient communities, and above average regulatory approval rates, drug developers are motivated to address rare diseases. While these trends are promising for patients with urgent unmet medical needs, orphan drug development still faces many challenges. The very nature of rare disease places pressure on identifying and accessing a sufficient number of patients for clinical trials.

Given that 80% of rare diseases are genetically defined, patient registries and databases with genetic information can help ease the burden of patient recruitment. Patient advocacy groups further expand the source of potential participants with strong interest in advancing rare disease studies.

Patient-centric approaches

Beyond recruitment and participation in clinical trials, patients can be recognized in a therapy’s entire lifecycle through a process called patient-centered outcomes research. Ideally, this process holistically examines a wide variety of patients’ needs to facilitate better communication between caregivers and patients and drive more informed healthcare decision making.

This focus on patients’ perspectives is not new but it has been rapidly expanding and gaining more attention. Patients are becoming more engaged in taking an active role in their healthcare and the pharmaceutical industry is already moving toward more targeted, personalized healthcare.

In the rare disease space, this patient-centric approach also resonates with development efforts by obtaining as much data from a patient as possible, given the scarcity of subjects within sparse populations.

Building greater inclusion

As the voice of the patients and their involvement grows, the pharmaceutical industry must determine how to best incorporate appropriate interactions with patients and advocacy groups to facilitate open communication, in an inclusive manner, across all participating countries and regions.

One key to effective communication is striking a balance between the potential benefits and risks of the treatment while not overpromising or creating the impression of a breakthrough, miracle drug in advance of clinical evidence—a very real issue when addressing rare diseases.

Organizations like the Center for Information and Study on Clinical Research Participation (CISCRP) and Patient-Centered Outcomes Research Institute (PCORI) are actively studying these critical issues to improve knowledge about clinical research and integrate patient and stakeholder perspectives into the overall process.

Contract research organizations (CROs) also play a valuable role as an unbiased third-party intermediary by working between patients and sponsors and delivering informative and accurate communications about a treatment’s potential in a clinical trial.

Supporting translational science

Patient engagement can also be incorporated into diagnostics research, especially during early stage development. Sample acquisition is key to identifying the genetic basis of a disease and potential biomarkers to measure target engagement and potential treatment effects. It also offers an opportunity to identify potential biomarkers that can be used to enhance early translational science and better inform clinical trial design and implementation.

As genomic technologies continue to mature and offer more powerful, faster identification of genetic aberrations, our industry’s ability to leverage these targets will also improve. With LabCorp, Covance has already established well-known clinical diagnostics but is exploring the possibilities beyond clinical trials to enhance translational research. Building a solution won’t happen overnight, but it will involve refining and enhancing biomarker and diagnostic capabilities so they better align with patient-centric approaches and make a difference for people in need.

You may also be interested in: The Evolution of Open-Label Extensions and Rare Disease Studies




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About Leone Atkinson, MD, PhD

Dr. Leone Atkinson is a Senior Medical Director in Neuroscience and leads the Rare Disease Working Group. In this role, Dr. Atkinson is responsible for consolidating lessons learned, relationships and expertise for rare disease across the organization. She provides scientific and clinical support for a number of clinical trials in Rare Disorders, including Fragile X Syndrome, Mucopolysaccharidosis IV, Late-stage Pompe disease, Duchenne Muscular Dystrophy, Acute Intermittent Porphyria, and Progressive Supranuclear Palsy. Before joining Covance, Dr. Atkinson served as a Medical Consultant for biopharmaceutical companies and the National Institutes of Health. From 2007-2010, she served as Executive Director of Clinical Development at PTC Therapeutics where she was responsible for the global clinical development program for ataluren in Duchenne Muscular dystrophy and other rare genetic disorders. Prior to that, she served as a Clinical Research Director at Sanofi-Aventis, where she lead a large clinical program for the treatment of Multiple Sclerosis and served as Associate Medical Director of Neuroscience at Novartis Pharmaceuticals. Dr. Atkinson received her Ph.D. in Medical Genetics from the University of British Columbia in Vancouver, BC, Canada. She completed a residency in Neurology and a post-doctoral fellowship at Mount Sinai Medical Center in New York, NY.