Clinical and Molecular Biomarker Studies in RAI1-Related Disorders

Status: Recruiting
Location: See location...
Intervention Type: Procedure, Diagnostic test
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1 month
Maximum Age: 80
Healthy Volunteers: t
View:

• 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.

∙ Control group:

• Healthy family member, not having a RA1-related disorder

• Age between 5 years to 80 years old

Locations
United States
Texas
Texas Children's Hospital
RECRUITING
Houston
Contact Information
Primary
Davut Pehlivan, MD
pehlivan@bcm.edu
(713) 798-6970
Time Frame
Start Date: 2024-03-13
Estimated Completion Date: 2027-03
Participants
Target number of participants: 90
Treatments
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).
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.
Sponsors
Collaborators: Doris Duke Charitable Foundation
Leads: Baylor College of Medicine

This content was sourced from clinicaltrials.gov

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