Phase 1 Evaluation of Single-Dose Intravenous AAVrh10-PCCA Gene Therapy for Children Aged 6 Months to 2 Years with Propionic Acidemia

What this Trial Is About

Propionic acidemia is a rare genetic metabolic disorder caused by mutations in the PCCA gene leading to loss of function in the mitochondrial enzyme propionyl-CoA carboxylase. This results in buildup of toxic substances causing symptoms like metabolic acidosis, vomiting, lethargy, cognitive impairment, and risk of death. This trial evaluates a gene therapy using an adeno-associated virus AAV to deliver a healthy copy of the PCCA gene to treat children with genetically confirmed propionic acidemia. The study tests three different single intravenous doses of AAVrh10-PCCA gene therapy in young children aged 6 months to 2 years. Doses include low 2 x 1012 vgkg, middle 8 x 1012 vgkg, and high 3.2 x 1013 vgkg amounts given to separate groups of three patients each. The gene therapy uses a viral vector to introduce the human PCCA gene to potentially restore enzyme function. Participants are closely monitored for safety and treatment effects for up to seven years after infusion. Researchers observe adverse events and conduct follow-up visits to evaluate the therapys impact. Parents or guardians must attend all assessments and consent to their childs participation. This long-term monitoring aims to better understand safety and potential benefits of this gene therapy for propionic acidemia.

AAVrh10-PCCA Gene Therapy for Propionic Acidemia