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Clinical and Molecular Biomarker Studies in RAI1-Related Disorders

This observational study aims to better understand Retinoic Acid-Induced 1 (RAI1)-related disorders, which currently lack specific genetic treatments. Researchers are looking for clinical and molecular biomarkers (measures of what's happening inside the body) that could help diagnose these disorders, monitor treatment responses, and track how the condition changes over time. You may be eligible if you have a genetically confirmed RAI1-related disorder, are between 1 month and 80 years old, and of any gender. The study involves various diagnostic tests like Electroencephalography/Polysomnography (EEG/PSG, a sleep study), a skin biopsy, and a blood draw. The goal is to identify neurological findings, sleep abnormalities, and molecular changes related to RAI1 disorders by 2029.

Study design
This is an observational study planning to enroll 90 participants. It will include 20 patients with Smith-Magenis syndrome (SMS), 20 patients with Potocki-Lupski Syndrome (PTLS), and up to 50 healthy family members as controls.
What's involved
You may need to visit the hospital for a one-time visit, which could include an overnight stay for a sleep study if selected. This visit will involve a physical exam, collection of medical history, vital signs, and potentially a sleep study, skin biopsy, and blood draw.
Compensation
Not stated in the trial record.
Follow-up
Researchers will measure neurological findings, EEG/sleep abnormalities, and molecular pathway interactors of RAI1 until 2029.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06274164

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

Recruiting
Not specifiedAges 1–80Observational
Baylor College of Medicine
~90 participants
Updated 2026-06-03 on ClinicalTrials.gov
What's tested:Electroencephalography/Polysomnography (EEG/PSG)Skin BiopsyBlood draw

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Rate of neurological clinical finding
Measured over 2029
+2 more outcomes measured

Conditions

RAI1 Gene 17P11.2 Deletion+Duplication

Explore related trials

Potocki-Lupski SyndromeRAI1-related disordersSmith-Magenis Syndrome

NCT06274164

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Texas Children's Hospital

    Houston, Texasstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Davut Pehlivan, MD · PRINCIPAL_INVESTIGATOR · Texas Children's Hospital - Baylor College of Medicine

Who to contact

Davut Pehlivan, MD
[email protected]
(713) 798-6970
Email the study team

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Eligibility criteria

Inclusion

Patient group:
Patients who have RAI1-related disorder confirmed by genetic testing including karyotyping, fluorescence in situ hybridization (FISH), array Comparative Genomic Hybridization (aCGH), single nucleotide polymorphism (SNP) array and next generation sequencing performed by a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory.
Grossly intact hearing and vision as per parent report
Age between 1 month to 60 years old
Able to complete the study (i.e., travel to site and spend 1 day in Houston)
Caregiver with spoken and written English at a level adequate to give informed assent (consent on behalf of the patient) for participation.
Healthy family member, not having a RA1-related disorder
Age between 5 years to 80 years old

Exclusion

Patient group:
Contraindication for blood draw or skin biopsy as determined by the enrolling provider (e.g., bleeding diathesis)
Patients who are at high risk including ventilator/tracheostomy dependent, poorly controlled endocrine disorders, and unstable seizures (will be assessed by neurologist), end-stage renal disease.
Participation in any investigational treatment study

What this trial measures

  • Rate of neurological clinical finding2029

    Identify biomarkers which have suitable stability for use in clinical settings by combining quantitative comparisons from the visit with qualitative literature/retrospective chart review synthesis, to prioritize measures for inclusion in a panel of candidate biomarkers. Investigators expect to find a clinical exam finding such as tremor which can be measurable objectively or behavior which can be relied on caregiver's report.

  • Rate of electroencephalogram (EEG) and/or sleep abnormalities2029

    Identify biomarkers which have suitable stability for use in clinical settings by combining quantitative comparisons from the visit with qualitative literature/retrospective chart review synthesis, to prioritize measures for inclusion in a panel of candidate biomarkers. To identify candidate oscillatory circuitry biomarkers of Smith-Magenis syndrome (SMS) and Potocki-Lupski Syndrome (PTLS), investigators will use EEG and sleep metrics.

  • Concentration of downstream molecular pathway interactors of RAI12029

    Identify biomarkers which have suitable stability for use in clinical settings by combining quantitative comparisons from the visit with qualitative literature synthesis, to prioritize measures for inclusion in a panel of candidate biomarkers. There are no biomarkers that trace disease stage and severity in RAI1-related disorders. Towards this goal, investigators aimed to identify molecular biomarkers from patients' plasma by quantifying metabolites.