Keynote 1: Natural History Study
In 2016, Orphan Technologies initiated the first comprehensive, longitudinal, prospective natural history study for classical homocystinuria. To date, we have enrolled close to 60 patients in 3 countries, with the majority of patients living in the United States. This study is providing novel insights into the clinical course of patients with classical homocystinuria on current therapy. In this presentation, we will discuss the interim findings of this study.
Marcia Sellos-Moura, PhD, is Vice President of Program and Portfolio Management at Orphan Technologies, a company dedicated to developing novel therapies to dramatically improve the lives of patients suffering from the rare disorder homocystinuria and related diseases. Prior to joining Orphan Technologies in 2016, Dr. Sellos-Moura held a variety of positions of increasing responsibility at Shire and Transkaryotic Therapies and was an integral contributor to the approval of four products and to the development of greater than 20 candidates across their rare disease portfolios. She has over 20 years of research, development, and program management experience with emphasis in preclinical and clinical development as well as bioanalytical and translational sciences. Dr. Sellos-Moura holds a PhD in Biochemistry, Cell and Molecular Biology and a bachelor in Biochemistry and Chemistry from Cornell University, as well as a graduate degree in Biopharmaceutical International Regulatory Affairs.
Keynote 2: Best Practices in Treatment of HCU
Dr. Kimberly Chapman was a member of the E-HOD Guidelines Committee and was responsible for gathering the data from a review of the scientific literature that lead to the Guidelines for Diagnosis and Management for Cystathionine Beta-Synthase Deficiency that were published in the Journal of Metabolic Diseases.
Kimberly Chapman is an attending physician in Genetics and Metabolism at Children's National and an Assistant Professor of Pediatrics and Integrated Systems Biology at George Washington University in Washington DC, United States. She specializes in taking care of all ages of individuals with defects of methylation, homocysteine and propionate metabolism.
She currently divides her time between clinical responsibilities, clinical research including several patient registries and other clinical trials, and a basic science laboratory which studies the Propionate pathway and Krebs cycle. She firmly believes that clinical care informs bench research and research enhances clinical care. Thus, with collaborators, she is exploring and designing novel therapeutics for a number of the metabolic disorders
Keynote 3: Screening Family Members and Family Planning
In this talk, we will focus on issues related to the diagnosis and recurrence risk of homocystinuria. Beginning with newborn screening for this condition, we will discuss the various challenges that one may encounter when trying to diagnose or rule out homocystinuria. This will include conversations on the concerns that may arise when pursuing carrier testing for at-risk family members as well as different approaches to testing that may be considered. Finally, we will discuss the inheritance of homocystinuria and the chances for other family members or future generations to also be diagnosed with this condition. We will look at various scenarios which may be applicable to patients and family members to gain a deeper understanding of the recurrence risk for each individual.
Katie Sapp is a genetic counselor with the Metabolism Clinic at IU Health Physicians and Riley Hospital for Children here in Indianapolis. Katie obtained her undergraduate degree in Biology from Indiana University-Bloomington in 2008, and completed her Masters degree in Medical Genetics at the Indiana University School of Medicine in 2010. Since that time, she has worked in her current role providing genetic counseling services as part of a multi-disciplinary clinic to patients with all types of inborn errors of metabolism, including those with positive newborn screens. While Katie is passionate about her work with these patients, in her spare time she enjoys spending time with family and friends, trying new things, and cheering on the Hoosiers!
Keynote 4: Therapies on the Horizon
Over the past couple years, a project was sponsored by HCU Network America and HCU Network Australia to develop a global research map that describes the research underway for new therapies to treat homocystinuria, focusing on HCU caused by CBS Deficiency. A global research strategy was also developed and a Scientific Advisory Board was convened to define the top priorities for funding via a new global grants program. This presentation will provide an update on the research underway for HCU and the outcome of the first round of our global grants process.
Margaret (Margie) McGlynn is President of the Board of HCU Network America, a patient advocacy organization she co-founded to provide support for patients and families affected by homocystinuria. She is also President of the Hempling Foundation for Homocystinuria Research, a fund she established to support research on new therapies for HCU in honor of her late sisters, Judy and Susie Hempling. Judy and Susie passed away due to homocystinuria in the early 1970s and Margie is committed to finding a cure for homocystinuria so that someday no children will suffer like her sisters did, and no families will need to deal with the impact of this devastating illness on their family members or the fear of passing the disease along to additional offspring.
After receiving a BS in Pharmacy and an MBA in Marketing from The University at Buffalo, Margie spent 26 years at Merck where she served in leadership roles in marketing, new product development and managed care, last serving as President, Global Vaccines and Anti-Infectives. After retiring from Merck, Margie served for 4 years as President and Chief Executive Officer of the International AIDS Vaccine Initiative (IAVI), a Product Development Partnership which helps accelerate HIV vaccine development by bridging government and philanthropic funding with academic and industry vaccine research and development capabilities. Margie also serves on the boards of Vertex Pharmaceuticals, Amicus Therapeutics, Orphan Technologies, and Air Products and Chemicals.
Therapies on the Horizon: OT-58 Update
Update provided by Marcia Sellos-Moura, PhD
Breakouts are broken down by the patients age group. Breakout's are designed for parents of patients that are in Early
Childhood, Elementary, High School, College and beyond. Patients 13 and up are welcome to participate in the breakout sessions.
Age Group: Birth - 4
Leader: Kim Chapman
Children's National, DC
See above for bio
Age Group: 19+
(College and Beyond)
Leader: Katie Sapp Genetic Counselor See above for bio