Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Public ClinicalTrials.gov record NCT06274164. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Clinical and Molecular Biomarker Studies in RAI1-Related Disorders
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and there are no established clinical or molecular biomarkers that could be used as measures for the efficacy of therapy in future treatment studies. Biomarkers are measures of what is happening inside the body, shown by the results of laboratory, imaging or other tests. Biomarkers can help doctors and scientists diagnose diseases and health conditions, monitor responses to treatment and see how a person's disease or health condition changes over time. The goal of this observational and laboratory study is to develop clinical, neurophysiology and molecular biomarkers in RAI1-related disorders. The main question\[s\] it aims to answer are: * to characterize the disease features more precisely and analyze the differentiating and overlapping features of RAI1-related disorders (Smith-Magenis syndrome and Potocki-Lupski Syndrome) * to identify clinical, neurophysiology, and laboratory biomarkers that differentiate RAI1-related disorders one from another. Participants will have to complete: * a clinical examination * a blood draw * a skin biopsy (optional) * a sleep study Researchers will compare patients' blood to control group's blood for biomarker studies.
Study identification
- NCT ID
- NCT06274164
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 90 participants
Conditions and interventions
Conditions
Interventions
- Electroencephalography/Polysomnography (EEG/PSG) Diagnostic Test
- Skin Biopsy Procedure
- Blood draw Diagnostic Test
Diagnostic Test · Procedure
Eligibility (public fields only)
- Age range
- 1 Month to 80 Years
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Mar 12, 2024
- Primary completion
- Apr 30, 2027
- Completion
- Apr 30, 2027
- Last update posted
- Jun 2, 2026
2024 – 2027
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Texas Children's Hospital | Houston | Texas | 77030 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT06274164, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jun 2, 2026 · Synced Sep 4, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT06274164 live on ClinicalTrials.gov.