Recruiting

Observational Study

Sponsor:

Baylor College of Medicine

Code:

NCT06274164

Conditions

RAI1 Gene 17P11.2 Deletion+Duplication

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Interventions

Electroencephalography/Polysomnography (EEG/PSG)

Skin Biopsy

Blood draw

Study Details

Brief 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

RAI1 Gene 17P11.2 Deletion+Duplication

Study ID

NCT06274164

Start date

Mar 13, 2024

Status verified date

Jun, 2026

Completion date

May, 2027

Anticipated

Primary completion date

May, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Inclusion Criteria:

  • 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.

Control group:

  • Healthy family member, not having a RA1-related disorder
  • Age between 5 years to 80 years old

Exclusion Criteria:

  • 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

Control group:

• Patients who have RAI1-related disorder confirmed by genetic testing.

Study Design

Enrollment

90 participants

Anticipated

Interventions and Outcome Measures

Arms

Patient group

Subject enrollment: patients with RAI1-related disorders will be enrolled and will complete the following assessments:

  • Clinical studies: vitals, history and physical examinations.
  • Neurophysiological studies: sleep/EEG study (for a selected patient population).
  • Molecular (biomarkers) studies: blood (required) and skin biopsy (optional).

Control group

Subject enrollment: healthy family members of the patients with RAI1-related disorders who are willing to give a blood sample.

Molecular (biomarkers) studies: blood samples will be used as healthy control for biomarker studies.

Interventions

Electroencephalography/Polysomnography (EEG/PSG)

Instigators will determine if subjects are candidate for the procedure. A sleep study records the brain electrical waves, the oxygen level in the blood, heart rate breathing, as well as eye and leg movements. Subjects will need to be admitted overnight for the sleep study.

Skin Biopsy

A special 3-4 mm (0.12 inches) wide circular tool will be used to remove a small section of skin including deeper layers. A numbing cream or injectable anesthetic (i.e. lidocaine) will be applied to the area before the procedure. Sample will be used to create a cell line. This means that investigators would treat the cells from the sample in a way that allows to grow them in the laboratory. Investigators will then use these cells in research.

Blood draw

A single blood sample of 15 cc (not exceeding 3 cc per kg) (\~3 teaspoons) will be collected for metabolomics (biomarker) study. From available family members, same amount of blood will be obtained to use as a control sample.

Primary outcome measure

  • Rate of neurological clinical finding [ Time Frame: 2029 ]
  • Rate of electroencephalogram (EEG) and/or sleep abnormalities [ Time Frame: 2029 ]
  • Concentration of downstream molecular pathway interactors of RAI1 [ Time Frame: 2029 ]

Central Contacts and Locations

Central contacts

Davut Pehlivan, MD

(713) 798-6970pehlivan@bcm.edu

Locations

Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Davut Pehlivan, MD

(713) 798-6970pehlivan@bcm.edu

More Information

Sponsor

Baylor College of Medicine

Last update posted

Jun 3, 2026

Last verified

Jun, 2026

Keywords

  • Smith-Magenis syndrome (SMS)
  • Potocki-Lupski Syndrome (PTLS)
  • RAI1-related disorders
  • Retinoic Acid-Induced 1-related disorders

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Baylor College of Medicine on 2026-06-03.