Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
NCT ID: NCT06274164
Last Updated: 2025-05-25
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
90 participants
OBSERVATIONAL
2024-03-13
2027-03-31
Brief Summary
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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.
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Detailed Description
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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 collected
* History and physical examination: A detailed birth, medical, surgical and medication history will be collected as well as seizure and movement disorder histories. Subject chart will be reviewed to complete this data collection. A general physical examination and detailed neurological examination will be performed.
* Vitals: blood pressure, temperature, respiratory rate, weight and height will be collected.
* Polysomnography/electroencephalography (PSG/EEG): clinician Investigator will determine if subject is candidate for the procedure. A sleep study records the brain electrical waves, the oxygen level in the blood, heart rate and breathing, as well as eye and leg movements. Subject will need to be admitted overnight for the sleep study. The exam is video recorded.
* Blood samples: A single blood sample of 15 cc (not exceeding 3 cc per kg) (\~3 teaspoons) will be collected for research purposes. Samples will be kept up to 2 years after the study results are published.
* Optional skin biopsy: a skin biopsy from the upper, inner arm, lateral upper thigh, or another area, may be performed for research purposes. A 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.
Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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Patient group
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).
Electroencephalography/Polysomnography (EEG/PSG)
Instigators 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
A 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
A 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.
Control group
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.
Blood draw
A 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.
Interventions
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Electroencephalography/Polysomnography (EEG/PSG)
Instigators 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
A 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
A 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.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* 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)
* Caregiver with spoken and written English at a level adequate to give informed assent (consent on behalf of the patient) for participation.
Control group:
* Healthy family member, not having a RA1-related disorder
* Age between 5 years to 80 years old
Exclusion Criteria
* 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
Control group:
• Patients who have RAI1-related disorder confirmed by genetic testing.
1 Month
80 Years
ALL
Yes
Sponsors
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Doris Duke Charitable Foundation
OTHER
Baylor College of Medicine
OTHER
Responsible Party
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Davut Pehlivan
MD, Assistant Professor, Pediatrics-Neurology
Principal Investigators
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Davut Pehlivan, MD
Role: PRINCIPAL_INVESTIGATOR
Texas Children's Hospital - Baylor College of Medicine
Locations
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Texas Children's Hospital
Houston, Texas, United States
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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H-54820 / RAI1
Identifier Type: -
Identifier Source: org_study_id
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