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NCT06274164 · ClinicalTrials.gov registry record
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
A clinical trial of RAI1 Gene 17P11.2 Deletion+Duplication, sponsored by Baylor College of Medicine.
- Recruiting
- Registry status
- 90
- Enrollment target
- 1
- Study location
NCT06274164 is a study of RAI1 Gene 17P11.2 Deletion+Duplication that is actively recruiting participants, run by Baylor College of Medicine. The registered enrollment target is 90 participants. The trial reports 1 study location across 1 state.
The verdict
NCT06274164, a study of RAI1 Gene 17P11.2 Deletion+Duplication, is actively recruiting participants, sponsored by Baylor College of Medicine.
- RECRUITING
- Registry status
- 90 participants
- Enrollment target
- 1
- Study location
Study Summary
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.
Conditions Studied
Interventions
- DIAGNOSTIC_TEST Blood draw
- DIAGNOSTIC_TEST Electroencephalography/Polysomnography (EEG/PSG)
- PROCEDURE Skin Biopsy
Study Locations (1)
Texas
- Texas Children's Hospital - Houston
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 90 participants |
| Start Date | 2024-03-13 |
| Est. Completion | 2027-03 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT06274164
The ClinicalTrials.gov registry entry for NCT06274164 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 90 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Baylor College of Medicine, which has 616 total studies on file at ClinicalTrials.gov.
The record links to 1 condition, with RAI1 Gene 17P11.2 Deletion+Duplication appearing as the primary indexed condition, and to 3 interventions - of which Blood draw is the first listed.
NCT06274164 reports 1 study location spanning 1 distinct geographic area - top geographies include Texas.
Frequently Asked Questions
What is clinical trial NCT06274164 about?
NCT06274164 is a clinical study titled "Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders". 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 stu...
What is the current status of trial NCT06274164?
This trial is currently recruiting. The enrollment target is 90 participants. The study started on 2024-03-13. Estimated completion is 2027-03.
What conditions does trial NCT06274164 study?
This clinical trial studies the following conditions: RAI1 Gene 17P11.2 Deletion+Duplication.
What interventions are being tested in trial NCT06274164?
The interventions under investigation include: Blood draw (DIAGNOSTIC_TEST), Electroencephalography/Polysomnography (EEG/PSG) (DIAGNOSTIC_TEST), Skin Biopsy (PROCEDURE).
Who is sponsoring clinical trial NCT06274164?
This trial is sponsored by Baylor College of Medicine, which has 616 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT06274164 being conducted?
This trial has 1 study location across Texas. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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