Actively Recruiting
Clinical and Molecular Biomarker Studies in RAI1-Related Disorders
Led by Baylor College of Medicine · Updated on 2026-06-03
90
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
B
Baylor College of Medicine
Lead Sponsor
D
Doris Duke Charitable Foundation
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are studying RAI1-related disorders, including Smith-Magenis syndrome and Potocki-Lupski Syndrome, to better understand disease features and identify clinical, neurophysiological, and molecular biomarkers. These biomarkers can help diagnose, monitor treatment response, and track disease progression. Currently, there are no genetic-based treatments or established biomarkers for these conditions, so this observational and laboratory study aims to fill that gap. Participants include patients with RAI1-related disorders and healthy family members as controls. Patients will undergo clinical examinations, blood draws, and some may have a sleep study or optional skin biopsy. The sleep study records brain waves, oxygen levels, heart rate, and movements during an overnight stay. Blood samples will be used for molecular biomarker research, and skin biopsies may create cell lines for laboratory study. Participants will complete a one-time visit that may include overnight monitoring for the sleep study. Assessments include medical history, physical and neurological exams, vital signs, sleep and EEG studies, blood draws, and optional skin biopsies. Researchers will compare patient and control blood samples to identify biomarkers. The study measures neurological findings, sleep abnormalities, and molecular markers related to RAI1. Participation may last one day with possible additional visits if needed.
CONDITIONS
Brief Title
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with RAI1-related disorder confirmed by genetic testing from a CLIA-certified laboratory
- Grossly intact hearing and vision as reported by a parent or caregiver
- Age between 1 month and 60 years old for patient group
- Able to travel to the study site and spend one day for assessments
- Caregiver with English language skills sufficient to provide informed consent
- Healthy family members without RAI1-related disorder aged 5 to 80 years for control group
You will not qualify if you...
- Contraindications for blood draw or skin biopsy, such as bleeding disorders
- High risk patients including ventilator or tracheostomy dependent, poorly controlled endocrine disorders, unstable seizures, or end-stage renal disease
- Participation in any investigational treatment study
- Control group members with confirmed RAI1-related disorder
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants undergo clinical assessments including vitals, history, physical and neurological examinations, blood sample collection, and optional skin biopsy. Some participants may have a sleep study involving overnight admission for EEG/PSG monitoring.
1 to 2 visits including an overnight stay for selected participants
Trial Site Locations
Total: 1 location
1
Texas Children's Hospital
Houston, Texas, United States, 77030
Actively Recruiting
Research Team
D
Davut Pehlivan, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
Frequently Asked Questions
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