Plain-English translation of NCT04322734 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
Researchers are trying to understand why some children with autism, epilepsy, brain tumors, and other neurological conditions have problems with their mitochondria—tiny structures inside cells that produce energy. This study will collect blood, urine, and stool samples from children with these conditions and compare them to healthy children, using a special machine called the Seahorse Analyzer to measure how well mitochondria are working. The goal is to find new, non-invasive ways to identify children who have mitochondrial problems without needing painful muscle biopsies.
Mitochondrial dysfunction—when these cellular energy factories don't work properly—is believed to play a role in many neurological and developmental disorders, but doctors don't have good, simple tests to detect it. This trial aims to develop a better, less invasive method to identify which children have mitochondrial problems, which could eventually lead to earlier diagnosis and better treatment.
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If your child is enrolled, you will provide blood, urine, and stool samples at a study visit. Your child will also complete some standard developmental and behavioral tests to help researchers understand how mitochondrial function relates to development and behavior. Some children may also have tissue samples examined if they are undergoing a medical procedure that produces leftover tissue. The study involves 500 children total, divided into different groups based on their diagnosis, so the time commitment and specific procedures may vary depending on which group your child joins.
AI-generated summary from trial data · Jun 8, 2026 · Not medical advice
United States
Sponsor
Southwest Autism Research & Resource Center
Collaborators
State University of New York - Downstate Medical Center
Enrollment target
~500 participants
Started
December 2023
Primary completion
December 2028
Last updated on clinicaltrials.gov in April 2026.
Reach out to the team running this trial. Response times vary — some teams are faster than others.
Central contact
Richard E Frye, MD, PhD
Autism Discovery & Treatment Foundation
Tell us you're interested and we'll help connect you with the research team. We'll walk you through what to expect first — no email needed to get started.