Scientists hunt for clues to rare genetic disorders
NCT ID NCT06274164
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This observational study aims to find biological markers (biomarkers) for RAI1-related disorders, including Smith-Magenis and Potocki-Lupski syndromes. Researchers will study 90 participants through clinical exams, blood tests, optional skin biopsies, and sleep studies. The goal is to better understand these conditions and develop tools to measure disease severity and treatment effects in future trials.
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 identify reliable biomarkers to track disease progression and response to future treatments for RAI1-related disorders.
- What could go wrong
- This is an early observational study, not a treatment trial. It may not find stable biomarkers, and results may not apply to all patients.
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 POTOCKI-LUPSKI 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
Locations
-
Texas Children's Hospital
RECRUITINGHouston, Texas, 77030, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.