Biomarker Studies for Smith-Magenis Syndrome
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial aims to find new ways to measure and understand RAI1-related disorders, such as Smith-Magenis syndrome and Potocki-Lupski syndrome. Researchers seek to discover biomarkers (biological indicators) that can aid in diagnosing these conditions, tracking their progress, and distinguishing them from each other. Participants will undergo various assessments, including clinical exams, a blood draw, and possibly a sleep study, to gather this information. Individuals with an RAI1-related disorder confirmed by genetic testing and who can travel to Houston for a day may be suitable for this study. As an unphased study, this trial offers a unique opportunity to contribute to groundbreaking research that could lead to improved diagnostic tools and treatments for RAI1-related disorders.
Why are researchers excited about this trial?
Researchers are excited about this trial because it aims to uncover valuable insights into RAI1-related disorders, which are currently not well-understood. Unlike traditional treatments that often aim to manage symptoms, this study focuses on identifying clinical and molecular biomarkers that could revolutionize diagnosis and treatment strategies in the future. By comparing patients with RAI1-related disorders to healthy family members, the trial may reveal unique biomarkers that could lead to more targeted and effective therapies. This approach holds promise for advancing personalized medicine and improving outcomes for individuals with these rare conditions.
Who Is on the Research Team?
Davut Pehlivan, MD
Principal Investigator
Texas Children's Hospital - Baylor College of Medicine
Are You a Good Fit for This Trial?
Inclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Clinical Assessment
Participants undergo clinical examination, blood draw, optional skin biopsy, and sleep study
Follow-up
Participants are monitored for safety and effectiveness after assessments
What Are the Treatments Tested in This Trial?
How Is the Trial Designed?
2
Treatment groups
Experimental Treatment
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).
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.
Find a Clinic Near You
Who Is Running the Clinical Trial?
Baylor College of Medicine
Lead Sponsor
Doris Duke Charitable Foundation
Collaborator
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