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.
Disclaimer
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This is a summary of
the original study
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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.
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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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Texas Children's Hospital
RECRUITINGHouston, Texas, 77030, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••