Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders

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. 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.

Conditions

• RAI1 Gene 17P11.2 Deletion+Duplication

Interventions

DIAGNOSTIC_TEST

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.

PROCEDURE

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.

DIAGNOSTIC_TEST

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.

Sponsors & Collaborators

• Doris Duke Charitable Foundation

  collaborator OTHER

• Baylor College of Medicine

  lead OTHER

Principal Investigators

• Davut Pehlivan, MD · Texas Children's Hospital - Baylor College of Medicine

Eligibility

Min Age

1 Month

Max Age

80 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2024-03-13

Primary Completion

2027-03-31

Completion

2027-03-31

Countries

• United States

Study Locations