Providing education, support, advocacy, and promoting research
for CTX patients, their families, and medical professionals
who treat and study this rare disease.
The CTXA is medically guided by the CTX Medical and Scientific Advisory Board. Their mission is to provide an independent and accessible academic home for the cerebrotendinous xanthomatosis (CTX) community, with the goal of improving the lives of CTX patients and their families, promoting early diagnosis and raising awareness of the disease and its unmet clinical needs, supporting CTX research and bringing together all stakeholders with an interest in curing this disease.
Dr. Andrea DeBarber is a Research Associate Professor at Oregon Health & Science University (OHSU), Portland OR, where she oversees the OHSU Sterol Analysis Laboratory that performs blood and urine testing for diagnosis and therapeutic monitoring of CTX. A focus of Dr. DeBarber’s research has been on developing improved diagnostic and screening tests for CTX.
Dr. Eichler is Associate Professor of Neurology at Massachusetts General Hospital and Harvard Medical School and the Director of the Leukodystrophy Service, the Center for Rare Neurological Diseases and the Mass General Brigham Neurogenetics and Gene Therapy Fellowship. Dr. Eichler developed the first successful substrate supplementation trial for hereditary sensory neuropathy type 1. He also is the Principal Investigator of the first gene therapy trial of adrenoleukodystrophy that reported successful outcomes in the New England Journal of Medicine 2017. Dr. Eichler received the Martin Research Prize from MGH and the Herbert Pardes Clinical Excellence Award from the Clinical Research Forum.
Dr. Huidekoper works as a pediatrician metabolic diseases in the Center for Lysosomal and Metabolic Diseases at the Erasmus MC University Hospital in Rotterdam, the Netherlands. In his current position he is treating and following children over the whole spectrum of inborn errors of metabolism. He has a special research interest in CTX and classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease) for which he is leading the clinical program in the Netherlands. Together with dr. Vaz, Amsterdam University Medical Center, he has been working on the development of a newborn screening method for CTX. He also co-coordinates the subnetwork for lysosomal storage disorders of the European Reference Network for Hereditary Metabolic Disorders (MetabERN) and is leader of the work package on clinical outcome research within the United for Metabolic Diseases (UMD) consortium in the Netherlands.
Dr. Larson is on the faculty of the University of Colorado School of Medicine and practices at Children’s Hospital Colorado. Dr. Larson maintains board certification in pediatrics, medical genetics, and biochemical genetics. Dr. Larson is the program director of the Medical Genetics and Genomics residency program where his interests include mitochondrial diseases, congenital disorders of glycosylation and CTX. Dr. Larson is also interested in clinical trials for rare diseases and application of genomic testing in clinical practice.
Dr. Rizzo is Professor of Pediatrics at the University of Nebraska Medical Center in Omaha, Chief of the Division of Inherited Metabolic Diseases, and holds the endowed Helen Freytag Chair in Pediatrics. As Scientific Director of their Child Health Research Institute, he oversees a wide variety of clinical and laboratory research studies, including therapeutic drug trials. He has a long career of research on disorders of lipid metabolism, both in the laboratory and clinic, and is an active clinician who cares for children and adults with a variety of inherited metabolic diseases.
Dr. Steiner is a Professor of Pediatrics (Clinical) at the University of Wisconsin, Chief Medical Officer at Prevention Genetics, and Newborn Screening Program Medical Consultant for the Wisconsin Department of Health Services. Dr. Steiner is board certified in Pediatrics, Clinical Genetics, and Clinical Biochemical Genetics and serves as the Editor in Chief of Genetics in Medicine. Dr. Steiner is an active clinician-scientist with specific interests in inherited metabolic diseases, metabolic bone diseases, disorders of sterol and bile acid synthesis, genetic testing, and newborn screening. In addition, Dr. Steiner is an accomplished researcher, having served as the Principal Investigator for more than a dozen clinical trials and research studies on rare diseases, including Cerebrotendinous Xanthomatosis (CTX) Smith-Lemli-Opitz Syndrome (SLOS), Osteogenesis Imperfecta, Phenylketonuria, Lysosomal Storage Diseases, and others. Dr. Steiner has devoted his career to the care of CTX patients and CTX research for over two decades.
Dr. Wishart attended Lehigh University focusing on a degree in Ecology. Following this he moved to Philadelphia and completed a Master’s degree in Medical Science. He then attended Philadelphia College of Osteopathic Medicine for his medical degree and completed a teaching fellowship while there focusing on functional anatomy and manual therapy. Following this, at Thomas Jefferson University Hospital and Nemours/Alfred I. DuPont Hospital for Children he completed a combined residency in both pediatrics and physical medicine and rehabilitation.
He is board certified in Pediatrics and Physical Medicine and Rehabilitation, Pediatric Rehabilitation Medicine and will be pursuing further subspecialty certification in Traumatic Brain Injury. He is focusing on building more cohesive program at the MassGeneral Hospital for Children as well as provides clinical services at Spaulding Charlestown and Salem. He has primary academic interest in rehabilitation in progressive neurologic disease and lecture nationally on this.
He loves to take his children and dogs outdoors as often as possible. The joy he finds from the outdoors comes into his practice in working to get his patients back out doing the things they love.
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1586 Sumneytown Pike
PO Box 1322
Kulpsville, PA 19443