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Patient group for Smith-Magenis Syndrome

N/A
Recruiting
Led By Davut Pehlivan, MD
Research Sponsored by Baylor College of Medicine
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 2029
Awards & highlights

Study 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.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~2029
This trial's timeline: 3 weeks for screening, Varies for treatment, and 2029 for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Concentration of downstream molecular pathway interactors of RAI1
Rate of electroencephalogram (EEG) and/or sleep abnormalities
Rate of neurological clinical finding
Secondary outcome measures
To examine the evidence for SMS vs. PTLS differences

Trial Design

2Treatment groups
Experimental Treatment
Group I: Patient groupExperimental Treatment3 Interventions
Subject enrollment: patients with RAI1-related disorders will be enrolled and will complete the following assessments: Clinical studies: vitals, history and physical examinations. Neurophysiological studies: sleep/EEG study (for a selected patient population). Molecular (biomarkers) studies: blood (required) and skin biopsy (optional).
Group II: Control groupExperimental Treatment1 Intervention
Subject enrollment: healthy family members of the patients with RAI1-related disorders who are willing to give a blood sample. Molecular (biomarkers) studies: blood samples will be used as healthy control for biomarker studies.
Treatment
First Studied
Drug Approval Stage
How many patients have taken this drug
Blood draw
2021
Completed Phase 4
~6290
Skin Biopsy
2015
Completed Phase 4
~680

Find a Location

Who is running the clinical trial?

Baylor College of MedicineLead Sponsor
1,001 Previous Clinical Trials
6,002,322 Total Patients Enrolled
1 Trials studying Smith-Magenis Syndrome
20 Patients Enrolled for Smith-Magenis Syndrome
Doris Duke Charitable FoundationOTHER
61 Previous Clinical Trials
259,996 Total Patients Enrolled
Davut Pehlivan, MDPrincipal InvestigatorTexas Children's Hospital - Baylor College of Medicine

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
Recent research and studies
clinicaltrials.govStudy
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Davut Pehlivan 2024. "Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT06274164.
All > Paid Studies Houston > Paid Studies Pasadena
~60 spots leftby Mar 2027
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