Currently, there is no cure for ECHS1 Deficiency. The families of the affected children and supporters can fund the Pre-Clinical research for ECHS1 Deficiency at UT Southwestern, Dallas, Texas, where scientists are working on developing the ECHS1 Deficiency gene therapy.
You can support the pre-clinical work required before a ECHS1 Deficiency clinical trial becomes feasible. This work includes pre-clinical research to develop an ECHS1 Deficiency gene therapy, creation and manufacture of an AAV/ECHS1 vector, and testing the safety and efficacy of AAV/ECHS1 in both cell models and mice.
You can donate on the official page of UT Southwestern Medical Center: Click here
Learn more about ECHS1 pre-clinical research at UTSW here