PPD/TFS Fostering Global Awareness in Rare Disorders

Galina Nesterova, MD

Rare Disease Day, observed annually on the last day of February, raises awareness about rare diseases and their impact on individuals' lives. It highlights the need for improved research, diagnosis, and treatment options for rare diseases, which often affect a small percentage of the population. This day serves as a platform for patients, caregivers, healthcare professionals, researchers, and policymakers to come together, share experiences, advocate for support, and foster solidarity within the rare disease community.

Founded in 1985 as a one-person consulting firm, PPD of Thermo Fisher Scientific has been committed to rare neurological disease research and helping advance treatment development and clinical trials. PPD has conducted clinical trials in more than 100 countries to help customers deliver life-changing therapies to improve health. Through ongoing innovation, the company makes it efficient for patients and physicians to participate in clinical trials through Accelerated Enrollment Solutions.

Stephen Peroutka, MD

Galina Nesterova, MD, executive medical director, and Stephen Peroutka, MD, vice president of Medical Science and Strategy of PPD's Clinical Research Business, provided thoughts as part of ongoing efforts to raise awareness for Rare Disease Day. The duo discussed the company's mission, the ways to improve diagnosis and detection of rare neurologic disorders, and some of the biggest questions as the field begins to incorporate gene therapy.

Can you discuss the importance of Rare Disease Day and raising awareness for those with rare neurologic disorders?

Recognizing and honoring Rare Disease Day is important to Thermo Fisher Scientific’s PPD clinical research business because we remain dedicated to increasing awareness within the general public and the pharmaceutical industry as we continue our efforts to improve the lives of the 350 million people around the globe suffering from rare diseases. Unfortunately, 95 percent of rare diseases have no treatment options or cures, even in circumstances where an individual receives an accurate diagnosis. Rare Disease Day shines a special light on the challenges in developing therapies for rare diseases and helps us advance collaboration among researchers, regulators, treatment developers and patient groups.

Talk a little bit about PPD’s goals and how they’re working towards improving the care and treatment options for those with rare disorders?

The PPD clinical research business of Thermo Fisher Scientific is at the forefront of rare disease research through our deep understanding of the importance of quality clinical trials. Our expertise in holistic trial execution, along with our continued efforts to foster strong relationships with various rare disease patient advocacy groups, pave the way to advancing research for new rare disease therapeutics.

Eighty percent of rare diseases are genetic and 50 percent of rare diseases affect children. We work with patients, families, and pharmaceutical and biotechnology companies to bring the patient's voice into clinical research.

From a clinical standpoint, how can we improve the detection and diagnosis of these disorders?

Rare diseases present unique challenges in both diagnosis and treatment because of their limited prevalence and lack of awareness. People living with rare diseases often face delayed diagnoses, limited treatment options and high healthcare costs. Next-generation sequencing (NGS) has revolutionized rare disease diagnostics. Additionally, advancing new technologies has increased the number of new gene disorders discovered and diagnoses made for patients and their families. Significant progress is being made in this area; however, there is much more work to be done.

As we enter an era of potential gene therapy, what are going to be the biggest roadblocks and how can we overcome them?

Gene therapy faces many ongoing challenges, including high one-time costs, complexities in manufacturing therapeutic agents, and pharmacologic standards of quality and consistency. In addition, as with any new therapeutic approach, another concern is long-term safety. Because of the unique nature of gene therapy, a number of issues must be addressed, such as the dosing method, the dose itself and the long-term consequences of the therapy. We believe the odds are high that researchers will one day be able to overcome the many current “roadblocks,” and we are proud to be part of this endeavor. We look forward to the promise of applying gene therapy in several fields of medicine and a greater percentage of clinical trials.

How can we continue to educate clinicians/neurologists about rare neurologic disorders without overloading them?

One approach to prevent an overload on clinicians and neurologist may be to provide widespread screening methods (e.g., prenatal testing), so that genetic or other tests can be used across the population to identify rare disorders as early as possible. In addition, tools such as broader access to next-generation sequencing, as well as a medical multidisciplinary team approach, will assist with sharing knowledge to enhance efforts to diagnose and treat rare disorders in a timely manner.