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
This trial accepts healthy volunteersQualifiers
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 population
Patients with RAI1-related disorders who are willing to participate in clinical, neurophysiological and molecular studies, will be enrolled, as well as healthy family controls. Subjects will have to travel to Texas Children's Hospital to complete study activities.
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Electroencephalography/Polysomnography (EEG/PSG)
Diagnostic testInstigators will determine if subjects are candidate for the procedure. A sleep study records the brain electrical waves, the oxygen level in the blood, heart rate breathing, as well as eye and leg movements. Subjects will need to be admitted overnight for the sleep study.
Skin Biopsy
Procedure/SurgeryA special 3-4 mm (0.12 inches) wide circular tool will be used to remove a small section of skin including deeper layers. A numbing cream or injectable anesthetic (i.e. lidocaine) will be applied to the area before the procedure. Sample will be used to create a cell line. This means that investigators would treat the cells from the sample in a way that allows to grow them in the laboratory. Investigators will then use these cells in research.
Blood draw
Diagnostic testA single blood sample of 15 cc (not exceeding 3 cc per kg) (\~3 teaspoons) will be collected for metabolomics (biomarker) study. From available family members, same amount of blood will be obtained to use as a control sample.
Treatment groups
90 Participants
are divided into 2 treatment groupsGroup A: Patient group3 interventions
Group B: Control group1 intervention
Trial outcomes
Primary outcomes
1
Rate of neurological clinical finding
Identify biomarkers which have suitable stability for use in clinical settings by combining quantitative comparisons from the visit with qualitative literature/retrospective chart review synthesis, to prioritize measures for inclusion in a panel of candidate biomarkers. Investigators expect to find a clinical exam finding such as tremor which can be measurable objectively or behavior which can be relied on caregiver's report.
Time frame
20292
Rate of electroencephalogram (EEG) and/or sleep abnormalities
Identify biomarkers which have suitable stability for use in clinical settings by combining quantitative comparisons from the visit with qualitative literature/retrospective chart review synthesis, to prioritize measures for inclusion in a panel of candidate biomarkers. To identify candidate oscillatory circuitry biomarkers of Smith-Magenis syndrome (SMS) and Potocki-Lupski Syndrome (PTLS), investigators will use EEG and sleep metrics.
Time frame
20293
Concentration of downstream molecular pathway interactors of RAI1
Identify biomarkers which have suitable stability for use in clinical settings by combining quantitative comparisons from the visit with qualitative literature synthesis, to prioritize measures for inclusion in a panel of candidate biomarkers. There are no biomarkers that trace disease stage and severity in RAI1-related disorders. Towards this goal, investigators aimed to identify molecular biomarkers from patients' plasma by quantifying metabolites.
Time frame
2029Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Baylor College of Medicine
Lead sponsor
Doris Duke Charitable Foundation
Collaborator
Source ClinicalTrials.gov