Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1. Clinical presentation includes infantile‐onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome.
Our mission is to fund ECHS1 gene therapy research at UT Southwestern Medical Center in Dallas, Texas. As there is no cure or treatment for our children’s disease, gene therapy is the only chance for several rare genetic diseases such as ECHS1 Leigh-like syndrome. Our hope is that this research project will lead to a clinical trial, which would be the first step in finding a cure for this devastating disease.
The pediatric neurology team at UT Southwestern Medical Center is dedicated to finding treatments for a range of neurodegenerative conditions, and this project will be an important step in finding a viable treatment for many other diseases related to genetic and mitochondrial defects.
Currently, there is no cure for ECHS1 Deficiency. The families of the affected children have a mission to raise 350.000 US Dollars to start preclinical trials for ECHS1 Deficiency at UT Southwestern, Dallas, Texas, where scientists can focus on developing the ECHS1 Deficiency gene therapy. After the preclinical research another 350.000 USD is needed for the toxicology study to submit the research results for FDA approval.
As of December 2020, a total of 245.000 USD has been transferred by the families to a dedicated account at UT Southwestern Medical Center.