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

Baylor College of Medicine · with Doris Duke Charitable Foundation · NCT06274164

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Ages 1 mo–80 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
90
US sites recruiting
1
Study start
March 13, 2024
Record last updated
June 3, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Being studied: Electroencephalography/Polysomnography (EEG/PSG); Skin Biopsy; Blood draw

Conditions: RAI1 Gene 17P11.2 Deletion+Duplication

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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.

Recruiting US locations

  • Texas Children's Hospital

    Houston, TX 77030

    Site contact: Davut Pehlivan, MD · (713) 798-6970 · pehlivan@bcm.edu

Study contacts (from the official record)

  • Davut Pehlivan, MD · (713) 798-6970 · pehlivan@bcm.edu
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Clinical and Molecular Biomarker Studies in RAI1 (Retinoic… (NCT06274164) | Bored Studies