John F. Kerrigan, MD, Co-Director, Hypothalamic Hamartoma Program Barrow Neurological Institute
It is my great honor to be invited to contribute to the Hope for Hypothalamic Hamartomas website. I am particularly excited to be part of the initial “roll-out” of this brand new effort to reach the worldwide Hypothalamic Hamartoma (HH) community of patients, families, community providers, and experts. I am the Co-Director of the Hypothalamic Hamartoma Center at the Barrow Neurological Institute in Phoenix, Arizona, and the Director of our HH Research Program. We have had the opportunity to meet and interact with many HH patients since we started our program in February 2003, and over 140 patients have been treated at Barrow during this time.
Many patients and families are new to the diagnosis of HH, and are just beginning to learn about it. Others, of course, have been living with HH and its rather unique set of problems for many years. Everyone, however, wants to know what is happening with research for HH. This column is an attempt to respond to that need for information.
The plan is to present a review of a selected area of HH research, relating either to groups of patients (“clinical research”) or laboratory science (“translational research”). Each topic will be addressed in detail for those who are interested in “drilling down” on a particular subject. My effort will be to use “plain English” to communicate clearly, but also to challenge our readers with unfamiliar ideas. The HH Research Corner will be published at least quarterly, so check in from time to time to look for something new. The intent is to present what is new and interesting, and, hopefully, ultimately helpful for patients with HH. Please let me know if there is a particular topic that interests you. We welcome your input.
Hypothalamic hamartomas (HH) associated with epilepsy is a relatively uncommon condition, occurring in roughly one of 200,000 children and teenagers. Because HH is relatively rare, regional epilepsy programs were able to evaluate and treat just a small number of patients at each institution, with the result that opportunities for research were limited.
However, over the past 10 years, a small number of centers around the world have developed a specialized interest in HH. Referral centers with patient-care and research expertise for HH and epilepsy include Royal Children’s Hospital in Melbourne, Australia; Barrow Neurological Institute in Phoenix, Arizona, USA (my institution); and Timone Hospital, Marseille, France, in addition to others. Substantially larger numbers of HH patients are now treated at these centers, giving clinical researchers the opportunity to understand larger patterns and trends for the clinical symptoms, and to report outcome results for the innovative treatments developed over the past decade. These findings relate directly to the experience of patients and families with HH, and provide guidance for making treatment decisions for affected patients with this complex condition.
In addition, the concentration of patients at specialized surgical centers has given us the opportunity to study surgically-resected HH tissue, in an effort to understand the basic cellular and molecular mechanisms that occur in HH that result in seizures and other symptoms. The understanding of these mechanisms has the potential to lead to truly innovative treatment and prevention strategies for HH, and perhaps to lead us into the next era where surgical therapy (with its associated risks) may not be needed.
Future columns will highlight recent discoveries and current project areas for HH clinical and basic science research. Clinical research focuses on improving our understanding of the symptoms and challenges of HH patients, and evaluating treatment results. This enables us to refine the decision-making process for each patient and ultimately to improve outcomes for the patient and family. Examples of clinical research include studying imaging, treatment outcomes, and the cognitive impact of HH treatment. New innovations for diagnosing, treating, or perhaps even preventing the various symptoms associated with HH will be largely based upon better understanding of the basic neurobiology of HH tissue, and how the HH interacts with the rest of the brain to cause such disabling problems. Basic research focuses on discovering the genetic mutations that causes HH and why is HH tissue capable of generating seizures.