Clinical trialNCT06274164RecruitingObservational

Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders

SponsorBaylor College of MedicineEnrollment90RAI1 Gene 17P11.2 Deletion+Duplication

View the registry record on ClinicalTrials.gov

Summary

The lay summary the sponsor registered on ClinicalTrials.gov.

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.

clinicaltrials.gov ↗

Investigators

The overall officials registered on this study. Names that resolve to a findmyKOL profile link to it; the rest are shown as registered.

Davut Pehlivan, MD
Texas Children's Hospital - Baylor College of Medicine
Principal Investigator
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A profile link is shown only when the registered name resolves to a person record with a confident, namesake-checked match; ambiguous names stay unlinked.

Sites

1 registered facility, with the per-site recruitment status where the registry publishes one. ClinicalTrials.gov does not publish per-site enrollment counts.

United States

Texas Children'S Hospital
Houston, Texas, United States
Recruiting

Site investigator names are published by ClinicalTrials.gov only while a study recruits, so completed studies list sites without them.

Drugs studied

No drug or biological interventions are in our data for this study — it may test a procedure, device or behavioral intervention, or the intervention list isn't in our current snapshot. See the registry record ↗. Why? →

Registration & key dates

Registry attributes as recorded on the ClinicalTrials.gov study record.

Start: 13 Mar 2024
Primary completion: 31 May 2027
Completion: 31 May 2027
Last update posted: 3 Jun 2026
Registered enrollment: 90
Registry id: NCT06274164

clinicaltrials.gov ↗

Source: ClinicalTrials.gov, via the CTTI AACT database, data as of 24 Aug 2026. Registry facts are shown as registered by the study sponsor; findmyKOL does not interpret them.