Scientists hunt for clues in rare genetic brain disorder
NCT ID NCT06014541
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagnosis. The study was terminated early, so results may be limited.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this study could help researchers better understand how MECP2 duplication syndrome progresses and identify biological markers to use in future treatment trials.
What could go wrong
This is an observational study that was terminated early, so it may not collect enough data to draw firm conclusions. It does not test any treatment, so there is no direct benefit to participants.
Disclaimer
Read more
Show less
This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for METHYL CPG BINDING PROTEIN 2 (MECP2) DUPLICATION SYNDROME 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
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Locations
-
Baylor College of Medicine
Houston, Texas, 77030, United States
-
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
-
Gillette Children's Specialty Healthcare
Saint Paul, Minnesota, 55101, United States
-
UCSD - Rady Children's Hospital
San Diego, California, 92123, United States
-
Vanderbilt University Medical Center
Nashville, Tennessee, 37203, United States