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Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
NCT06274164 · View on ClinicalTrials.gov ↗
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. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. 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 678 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
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. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT06274164 reports 1 study location spanning 1 distinct geographic area — top geographies include Texas. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
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. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
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). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT06274164?
This trial is sponsored by Baylor College of Medicine, which has 678 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
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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