Clinical and Molecular Biomarker Studies in RAI1-Related Disorders
Baylor College of Medicine
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.
Description
20 SMS (Smith-Magenis syndrome) patients and 20 PTLS (Potocki-Lupski Syndrome) patients will be enrolled in the study. Additionally, up to 50 healthy controls will be enrolled among family members of patients. All the assessments may be completed during a one-time visit at the hospital which includes an overnight stay for the sleep study for selected individuals. In case all the procedures could not be completed during the one-time visit, subjects may be asked to come again for the remaining procedure. Tests, procedures and samples to be completed or collected: * Demographics will be collec…