Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-80
SponsorBaylor College of Medicine
About this trial
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
Qualifiers
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)
Disqualifiers
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
Trial design
Treatments tested in this trial
- Electroencephalography/Polysomnography (EEG/PSG)
- Skin Biopsy
- Blood draw
Treatment groups
90 Participants
are divided into 2 treatment groupsSponsors and collaborators
Baylor College of Medicine
Lead sponsor
Doris Duke Charitable Foundation
Collaborator
Source ClinicalTrials.gov