QUESTION| Let’s start by talking about the development of therapeutics for rare diseases. How did you become interested in this topic?
One of the great aspects of clinical child neurology is the opportunity to care for patients with a broad spectrum of disorders, from common to rare. The unique expertise of a child neurologist regarding the interactions of each organ system with the brain and the diagnostic challenges of complex metabolic and genetic conditions drew me to the field. Even as a medicalstudent, it was clear to me that the field of Child Neurology would change during the course of my career as new scientific knowledge led to novel therapeutics.The need for effective therapies is especially high in these rare, complex diseases that initially sparked my interest in child neurology and subsequently became my focus.
QUESTION| What are the special challenges that researchers face when they are dealing with rare diseases?
The key is in that word ‘rare’. By definition,these are disorders that affect small numbers of people, which, in turn, impacts every aspect of care and research—garnering interest in the area, access to expertise,small numbers of researchers, limited dedicated research funding, and challenges with developing clinical studies of sufficient size to enable rigorous research.
QUESTION| Do clinical trials need to be organized differently or have different goals when they are addressing a rare disease,in comparison to more common diseases?
The same principles underlying high quality scientific research and rigorous evidence apply in rare diseases, even with the challenge of small samples. This is critical for generating robust knowledge regarding the safety and efficacy of new treatments.The infrastructure for trials targeted to rare disorders may necessarily be multi-center or even multi-national, in order to garner sufficient patient numbers. In addition,patient partnership in the development and execution of trials is especially important.
QUESTION| Do the funding agencies in the US give enough priority to rare diseases?
There are a number of efforts to support rare disease research from federal agencies,including the Food and Drug Administration(FDA) Office of Orphan Products. The 21stCentury Cures Act, passed in late 2016,includes several provisions related to rare diseases, including reauthorization of the FDA Rare Disease Priority Review voucher program and updates to the FDA Orphan Drug grant program. There are, however,more than 7,000 rare diseases, the majority of which lack disease-modifying treatments.There is certainly a continued need for greater priority and support.
QUESTION| Are there challenges in motivating pharmaceutical companies to pursue development of treatments for rare diseases?
The Orphan Drug Act of 1983 was developed to address this specific issue. It provides financial incentives to motivate development of new treatments for rare diseases. Based on the annual number of treatments approved by the FDA for rare conditions, the Act has been quite successful.
QUESTION| Are there certain rare diseases of pediatric neurology about which you have particular optimism for a new treatment in the near future?
We are seeing new therapeutics emerge with great impact. A particularly exciting aspect of recently approved technologies is the potential for use in many diseases.As gene transfer, RNA-based approaches, and CNS-directed enzyme replacement therapies expand inapplication, there is the potential for huge impact on rare diseases, many of which are genetically based, and consequently for the entire field of child neurology.
QUESTION| Let’s change the subject a bit and talk about your experiences with the Emerging Leadership Program. How about if you start by explaining what the ELF program is?
The Emerging Leaders Program (formerly Emerging Leaders Forum, ELF) is a leadership initiative of the American Academy of Neurology and is part of its growing portfolio of leadership programs. The Emerging Leaders Program is a 6-month leadership training program targeted to individuals in the early career phase,within 10 years of completion of residency.
QUESTION| What was your personal experience with ELF?
ELF was a fantastic experience and I recommend it highly. We spend close to a decade in medical school and residency (or more with fellowship) preparing for the practice of child neurology, building our medical knowledge and our ability to work with patients to provide high quality, compassionate care. Yet, much of what we do involves leadership—leading a clinical team,building a research program, directing a course, clerkship,or residency/fellowship are just a few examples. Dedicated opportunities to develop those critical leadership skills and structured ways to build professional networks early in one’s career can be invaluable. During my participation in ELF, Dr. Ann Tilton (President of the Child Neurology Foundation) was a phenomenal mentor and resource.I am delighted that my relationship with the Emerging Leaders Program continues today, now as a mentor to another Child Neurology Society member, Dr. Mathula Thangarajh of the Children’s National Health System.
Editor’s Note: Dr. Erika Augustine is an Associate Professor of Neurology and Pediatrics at the University of Rochester Medical Center where she serves as Assistant Program Director for the NINDS-funded Experimental Therapeutics training program. She is a member of the NIH Task force on Childhood Motor Disorders and is a consultant to the FDA Neurological Devices Panel.Dr. Augustine’s research interests include methodology of clinical research and experimental therapeutics in rare pediatric neurological disorders. She also currently serves as the Diversity Officer for the NIH-funded Child Neurology Career Development Project (CNCDP-K12) and chairs the Scientific Program Committee for the 2018and 2019 CNS Annual Meeting.