Experimental drug offers hope for babies with rare genetic brain condition
NCT ID NCT04143295
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This trial tests a drug called DITPA in male infants with MCT8 deficiency, a rare genetic disorder that causes severe intellectual disability and movement problems. The drug aims to improve thyroid hormone function in the brain. Only infants whose families have a history of the condition and choose not to terminate the pregnancy are eligible.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- Diiodothyropropionic acid (DITPA)
- What this could lead to
- If it works, this could offer a treatment to improve brain development and movement in infants with MCT8 deficiency, potentially reducing severe disability.
- What could go wrong
- This is an early-stage trial with very few participants, so results may not apply broadly. The drug may not fully correct the underlying genetic problem, and side effects are unknown.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY are added.
By submitting, you agree to our Terms of use
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
University of Miami, Miller School of Medicine
AVAILABLEMiami, Florida, 33136, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.