A charitable trust on a mission to
find a cure for ECHS1 deficiency
— Cure ECHS1D Aotearoa
What is ECHS1 deficiency?
ECHS1D is a rare genetic disorder that affects the body’s ability to break down a certain protein called valine, and typically affects babies and children. Currently there are less than 100 people in the world diagnosed with ECHS1D – including around 10 children in Aotearoa, New Zealand.
This condition is caused by mutations in the ECHS1 gene, which leads to problems in energy production within cells, particularly in the mitochondria.
People with ECHS1 deficiency often experience severe neurological issues, developmental delays, and muscle problems when they are babies. That could be seizures, dystonia (painful muscle contractions), severe developmental delay, hearing loss, damage to the optic nerve in the eyes and failure to thrive because their bodies ‘starve’ themselves.
Crucially, if undiagnosed or mistreated, babies and children can suffer from catabolic stroke if they get sick, causing permanent damage or even failure of vital organs, such as the brain and heart.
Currently there is no cure for this devastating and often fatal disease.
Our mission
To fight for a better life for children around the world with this fatal diagnosis.
Working toward a cure
There is currently no cure for ECHS1 Deficiency — but researchers are working to change that, and Cure As One is helping to make it happen.
We are funding substrate reduction therapy research at Victoria University of Wellington’s Ferrier Research Institute — investigating whether blocking a key enzyme could reduce the toxic molecule buildup that causes so much harm in children with ECHS1D. This research is happening right now, supported by your donations.
Internationally, gene therapy is also advancing — with researchers in the US working to develop a one-time treatment that could replace the faulty gene at the root of ECHS1D.
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