NCT06274164 Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
| NCT ID | NCT06274164 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Baylor College of Medicine |
| Condition | RAI1 Gene 17P11.2 Deletion+Duplication |
| Study Type | OBSERVATIONAL |
| Enrollment | 90 participants |
| Start Date | 2024-03-13 |
| Primary Completion | 2027-05 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 90 participants in total. It began in 2024-03-13 with a primary completion date of 2027-05.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility 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.
Contact & Investigator
Davut Pehlivan, MD
PRINCIPAL INVESTIGATOR
Texas Children's Hospital - Baylor College of Medicine
Frequently Asked Questions
Who can join the NCT06274164 clinical trial?
This trial is open to participants of all sexes, aged 1 Month or older, up to 80 Years, studying RAI1 Gene 17P11.2 Deletion+Duplication. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06274164 currently recruiting?
Yes, NCT06274164 is actively recruiting participants. Contact the research team at pehlivan@bcm.edu for enrollment information.
Where is the NCT06274164 trial being conducted?
This trial is being conducted at Houston, United States.
Who is sponsoring the NCT06274164 clinical trial?
NCT06274164 is sponsored by Baylor College of Medicine. The principal investigator is Davut Pehlivan, MD at Texas Children's Hospital - Baylor College of Medicine. The trial plans to enroll 90 participants.