Actively Recruiting
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Led by Baylor College of Medicine · Updated on 2025-05-25
90
Participants Needed
1
Research Sites
154 weeks
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
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
Official 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 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 in Houston and spend one day for assessments
- Caregiver able to provide informed assent or consent in spoken and written English
- Healthy family members without RAI1-related disorder aged between 5 and 80 years old can participate as controls
You will not qualify if you...
- Contraindication for blood draw or skin biopsy as determined by the enrolling provider (e.g., bleeding disorders)
- Patients who are ventilator or tracheostomy dependent
- Patients with poorly controlled endocrine disorders
- Patients with unstable seizures as assessed by a neurologist
- Patients with end-stage renal disease
- Participation in any investigational treatment study
- Control group individuals with confirmed RAI1-related disorder
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Texas Children's Hospital
Houston, Texas, United States, 77030
Actively Recruiting
Research Team
D
Davut Pehlivan, MD
CONTACT
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
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here