Learn About CACH Syndrome
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves.
Mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes cause leukoencephalopathy with vanishing white matter.
The prevalence of leukoencephalopathy with vanishing white matter is unknown. Although it is a rare disorder, it is believed to be one of the most common inherited diseases that affect the white matter.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Rubenstein Child Health Building
Dr. Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins where he is also a professor of genetic medicine and neurology. He obtained his MD at the University of Connecticut and was trained in Pediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He received additional training in developmental neuropathology at the Universite Catholique de Louvain in Belgium and clinical genetics at the Harvard Program. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy. He has been actively involved in newborn screening for ALD and in developing clinical follow-up programs. He has extensive experience in clinical management of neurogenetic issues including peroxisomal and lysosomal disorders. He presently serves as the Director of the Lysosomal Storage Disease program in the department of Genetic Medicine. Dr. Raymond is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Zellweger Syndrome, and Leukodystrophy.
Regenstein Center For Neurological Care - Lavin Family Pavilion
Igor Koralnik is a Neurologist in Chicago, Illinois. Dr. Koralnik is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. His top areas of expertise are Progressive Multifocal Leukoencephalopathy, CACH Syndrome, Encephalitis, Thrombectomy, and Endovascular Embolization. Dr. Koralnik is currently accepting new patients.
Primary Children's Neurology Clinic - Salt Lake City
Joshua Bonkowsky is a Pediatric Neurologist in Salt Lake City, Utah. Dr. Bonkowsky has been practicing medicine for over 28 years and is rated as an Elite provider by MediFind in the treatment of CACH Syndrome. His top areas of expertise are CACH Syndrome, Adrenoleukodystrophy (ALD), Leukodystrophy, Krabbe Disease, and Gastrostomy. Dr. Bonkowsky is currently accepting new patients.
Summary: The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). ...
Summary: The primary purpose of this study is to evaluate the safety and tolerability of ION356.
Published Date: May 01, 2013
Published By: National Institutes of Health