Exploring biomarkers in RAI1-related disorders
Clinical and Molecular Biomarker Studies in RAI1-Related Disorders
This study is trying to find new markers in the blood and other tests that can help us understand and treat Smith-Magenis syndrome and Potocki-Lupski Syndrome better.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 90 (estimated) |
| Ages | 1 Month to 80 Years |
| Sex | All |
| Sponsor | Baylor College of Medicine Academic / other |
| Locations | 1 site (Houston, Texas) |
| Trial ID | NCT06274164 on ClinicalTrials.gov |
What this trial studies
This observational study aims to develop clinical, neurophysiology, and molecular biomarkers for RAI1-related disorders, specifically Smith-Magenis syndrome and Potocki-Lupski Syndrome. It will enroll 20 patients from each disorder and up to 50 healthy controls, focusing on characterizing disease features and identifying overlapping traits. Participants will undergo a series of assessments, including medical history, physical examinations, polysomnography, and blood sample collection, to gather comprehensive data. The study seeks to establish measures that could inform future treatment efficacy.
Who should consider this trial
Good fit: Ideal candidates include patients aged 1 month to 60 years with genetically confirmed RAI1-related disorders.
Not a fit: Patients with contraindications for blood draws or skin biopsies may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to the identification of biomarkers that enhance diagnosis and treatment strategies for patients with RAI1-related disorders.
How similar studies have performed: While there is limited data on similar biomarker studies for RAI1-related disorders, the approach of identifying biomarkers has shown promise in other genetic conditions.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Houston, Texas
- Texas Children's Hospital — Houston, Texas, United States (Recruiting)
Study contacts
- Principal investigator: Davut Pehlivan, MD — Texas Children's Hospital - Baylor College of Medicine
- Study coordinator: Davut Pehlivan, MD
- Email: pehlivan@bcm.edu
- Phone: (713) 798-6970
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.