Sandhoff Disease Overview
Learn About Sandhoff Disease
Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord (central nervous system). This condition is classified into three major types based on the age at which signs and symptoms first appear: infantile, juvenile, and adult.
Sandhoff disease is caused by variants (also known as mutations) in the HEXB gene. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B. These enzymes are located in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, these two enzymes break down fatty substances, complex sugars, and molecules that are linked to sugars. In particular, beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside.
Sandhoff disease is a rare disorder; its frequency varies among populations. This condition appears to be more common in the Creole population of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people from Lebanon.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Cynthia Tifft is a Medical Genetics provider in Washington, Washington, D.c.. Dr. Tifft is rated as an Elite provider by MediFind in the treatment of Sandhoff Disease. Her top areas of expertise are Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.
Jagdeep Walia practices in Kingston, Canada. Mr. Walia is rated as an Elite expert by MediFind in the treatment of Sandhoff Disease. His top areas of expertise are Sandhoff Disease, Tay-Sachs Disease, Gangliosidosis, and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Frances Platt practices in Oxford, United Kingdom. Ms. Platt is rated as an Elite expert by MediFind in the treatment of Sandhoff Disease. Her top areas of expertise are Niemann-Pick Disease, Sandhoff Disease, Non-Langerhans-Cell Histiocytosis, and Reticulohistiocytoma.
Summary: The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 as an adjunctive therapy in patients with inborn errors of metabolism who have evidence of early demyelinating disease in the central nervous system (CNS) who are undergoing standard treatment with unrelated umbilical cord blood transplantation (UCBT). The secondary objective of t...
Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Published Date: December 15, 2021
Published By: National Institutes of Health