RAI1 Gene 17P11.2 Deletion+DuplicationNCT06274164
Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
An observational study of RAI1 Gene 17P11.2 Deletion+Duplication, run by Baylor College of Medicine at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 month to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- RAI1 Gene 17P11.2 Deletion+Duplication
- What is being tested?
- Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy and Blood draw
- Type of treatment
- Injection or infusion, Surgery or procedure
- How many people
- 90 participants
- Where
- 1 siteUnited States
- Study dates
- 13 Mar 2024to May 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 80 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study 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.
Who may be able to join
- Patient group:
- 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.
Show all 9Show fewer
- Control group:
- Healthy family member, not having a RA1-related disorder
- Age between 5 years to 80 years old
Who cannot join
- Patient group:
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Texas Children's Hospital
Houston, Texas, 77030
Davut Pehlivan, MD, (713) 798-6970, pehlivan@bcm.edu
About this study
Official title: Clinical and Molecular Biomarker Studies in RAI1-Related Disorders
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.
Read more
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.
Read the detailed 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 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
- RAI1 Gene 17P11.2 Deletion+Duplication
- Being tested
- Electroencephalography/Polysomnography (EEG/PSG), Skin Biopsy, Blood draw
- Keywords
- Smith-Magenis syndrome (SMS), Potocki-Lupski Syndrome (PTLS), RAI1-related disorders, Retinoic Acid-Induced 1-related disorders
- Medical subject headings
- Smith-Magenis Syndrome, Potocki-Lupski syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Electroencephalography/Polysomnography (EEG/PSG)Diagnostic test
Also called sleep study
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 BiopsyProcedure or surgery
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 drawDiagnostic test
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.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Diagnostic Test: Electroencephalography/Polysomnography (EEG/PSG); Procedure: Skin Biopsy; Diagnostic Test: Blood draw | |
| 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. Receives: Diagnostic Test: Blood draw |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 2029
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.
Measured: 2029
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.
Measured: 2029
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2024
- Study start13 Mar 2024
- Primary completionMay 2027 (estimated)
- Study completionMay 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RAI1 Gene 17P11.2 Deletion+DuplicationStudies of the same condition, open and under way.
- More trials run by Baylor College of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 90 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Baylor College of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- Doris Duke Charitable Foundation
- Responsible party
- Principal investigator, Davut Pehlivan, Baylor College of Medicine
- Investigators
- Davut Pehlivan, MD, Principal investigator, Texas Children's Hospital - Baylor College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06274164
- Sponsor's protocol ID
- H-54820 / RAI1
- Status last verified
- Jun 2026
- First submitted
- 16 Feb 2024
- Last updated
- 3 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Biomarker Studies in RAI1-Related Disorders
- ClinicalTrials.gov ID
- NCT06274164
- Acronym / sponsor ID
- H-54820 / RAI1
- Conditions
- RAI1 Gene 17P11.2 Deletion+Duplication
- Keywords
- Smith-Magenis syndrome (SMS), Potocki-Lupski Syndrome (PTLS), RAI1-related disorders, Retinoic Acid-Induced 1-related disorders
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 90 participants (estimated)
- Lead sponsor
- Baylor College of MedicineUniversity, hospital or other
- Collaborators
- Doris Duke Charitable Foundation
- Study start
- 13 Mar 2024 (actual)
- Primary completion
- May 2027 (estimated)
- Study completion
- May 2027 (estimated)
- First posted
- 23 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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 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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient group | – | Diagnostic Test: Electroencephalography/Polysomnography (EEG/PSG), Procedure: Skin Biopsy, Diagnostic Test: Blood drawSubject 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). |
| Control group | – | Diagnostic Test: Blood drawSubject 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. |
Who may qualify
- Ages
- 1 month to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study 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.
Key inclusion criteria (9 listed)
- Patient group:
- Healthy family member, not having a RA1-related disorder
- Age between 5 years to 80 years old
Key exclusion criteria (6 listed)
- Patient group:
- Patients who have RAI1-related disorder confirmed by genetic testing.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Electroencephalography/Polysomnography (EEG/PSG)Also: sleep studyInstigators 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. | Diagnostic test | Patient group |
| Skin BiopsyA 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. | Procedure or surgery | Patient group |
| Blood drawA 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. | Diagnostic test | Control group, Patient group |
Primary outcome
Rate of neurological clinical finding
Time frame: 2029
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.
Rate of electroencephalogram (EEG) and/or sleep abnormalities
Time frame: 2029
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.
Concentration of downstream molecular pathway interactors of RAI1
Time frame: 2029
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jun 2026.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Davut Pehlivan, MD principal investigator
Texas Children's Hospital - Baylor College of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of RAI1 Gene 17P11.2 Deletion+Duplication, run by Baylor College of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Davut Pehlivan, MD ((713) 798-6970, pehlivan@bcm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rate of neurological clinical finding (time frame: 2029). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Jun 2026.