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.
The possibilities of gene therapy
The Cure Mito Foundation in the US, is currently working with The University of Texas South Western Medical Center to collaborate on an ECHS1 AAV9 Gene Replacement Therapy.
The therapy aims to help people replace the gene in their cells that causes ECHS1D with a normal, healthy gene. This innovative treatment offers hope for improving the lives in ECHS1 deficiency patients.
We are super excited and hopeful about the possibilities this therapy could have to help both those to already diagnosed and those yet to be. There are a handful of families around the world that have already begun work on gene therapy. They are currently at the preclinical stage and – with your support – we can ensure the journey towards a cure for ECHS1D continues!
Gene therapy process
1. Discovery & development
The process begins by identifying a target molecule related to a disease. Scientists then develop a compound to interact with the molecule to modify its function.
2. Preclinical research
Preclinical research involves studying drugs or treatments for diseases before human testing, including investigating disease causes, and testing treatments on animals. The Cure Mito Foundation is currently here!
3. Formal toxicology & drug manufacturing
Toxicology studies evaluate drug safety and toxicity before human trials.
4. Clinical trial
Clinical trials are investigations conducted on humans to determine the safety of gene therapy approaches for individuals by healthcare practitioners.
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