ECHS1 Deficiency is a devastating and currently incurable condition. But that is not where the story ends.
Researchers around the world — supported by families like ours — are actively working to change that. There are two promising research avenues that we believe could one day lead to a treatment: substrate reduction therapy and gene therapy. Here’s what each involves, and where things stand today.
Substrate Reduction Therapy
What is it?
In ECHS1 Deficiency, the body cannot properly process certain toxic molecules. These molecules accumulate over time and cause damage to the brain and other vital organs — and they are responsible for many of the condition’s most devastating symptoms.
Substrate reduction therapy (SRT) takes a different approach to treating this: rather than waiting for toxic molecules to build up and then trying to clear them, SRT aims to reduce how many toxic molecules are produced in the first place. It does this by blocking a specific enzyme involved in their creation.
Why does it matter?
Treatment options for ECHS1D are currently extremely limited. Cure As One is funding the proof of concept for substrate reduction therapy here in Aotearoa New Zealand — establishing whether this targeted approach could offer real relief for children living with this condition. This is just the beginning. Continued funding is essential to keep this research moving forward and to turn early findings into something that could one day make a real difference for families affected by ECHS1D.
The research
In 2026, Cure As One donated $90,000 to establish the Cure As One ECHS1D Research Fund at Te Kāuru — Ferrier Research Institute, Victoria University of Wellington. This funding is supporting a dedicated research programme to investigate SRT as a potential treatment for ECHS1D.
The research team will produce a key enzyme involved in the buildup of these toxic molecules, and then systematically test new compounds designed to block it. The aim is to determine whether this approach is scientifically viable — and if so, to lay the groundwork for developing it into a future medicine.
“The study will determine whether this is a viable approach that could be developed into a future medicine. Treatment options for ECHS1D are currently very limited.”
— Victoria University of Wellington, Te Kāuru Ferrier Research Institute
Gene Therapy
What is it?
Gene therapy is a revolutionary approach to treating genetic diseases at their source. Rather than managing symptoms, gene therapy works by replacing the defective gene responsible for a disease with a healthy, functioning copy — offering the potential for a one-time treatment that provides lasting benefit.
For ECHS1D, this would mean replacing the faulty ECHS1 gene in a patient’s cells with a healthy version, restoring the body’s ability to properly process the molecules that currently cause so much harm.
How does it work?
The gene therapy process involves four key stages:
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Scientists identify the target gene and develop a healthy copy. A virus — stripped of its own genetic material — is used as a vehicle (called a vector) to carry the healthy gene into the body’s cells.
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Before any human testing, the therapy is rigorously tested in laboratory and animal studies to assess its effectiveness and safety. This stage involves detailed analysis of how the therapy behaves in living systems.
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If preclinical results are promising, the therapy moves into formal safety testing. Scientists evaluate how the body responds to the treatment at varying doses, and the therapy is manufactured to the standards required for human trials.
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The therapy is tested in humans for the first time. Clinical trials carefully assess safety and, over subsequent phases, effectiveness — moving from small groups of patients to larger populations.
Where things stand
The Cure Mito Foundation in the United States is currently working with The University of Texas Southwestern to develop a gene therapy for ECHS1D. They are currently in Stage 2: Preclinical Research — a critical phase in which the therapy is being tested and refined before any human trials can begin.
We are following this work closely and are deeply encouraged by the progress being made. A successful gene therapy for ECHS1D would be a landmark moment for every family affected by this condition around the world.