RECRUITING

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

Conditions

RAI1 Gene 17P11.2 Deletion+Duplication Smith-Magenis syndrome (SMS)Potocki-Lupski Syndrome (PTLS)RAI1-related disorders Retinoic Acid-Induced 1-related disorders

Quick Navigation

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Clinical and Molecular Biomarker Studies in RAI1-Related Disorders

Quick Facts

Study Start:2024-03-13

Study Completion:2027-03

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06274164

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Month to 80 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
* 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. * Healthy family member, not having a RA1-related disorder * Age between 5 years to 80 years old	* 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

Inclusion Criteria

Exclusion Criteria

* 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.
* Healthy family member, not having a RA1-related disorder
* Age between 5 years to 80 years old

* 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

Contacts and Locations

Study Contact

Davut Pehlivan, MD

CONTACT

(713) 798-6970

pehlivan@bcm.edu

Principal Investigator

Davut Pehlivan, MD

PRINCIPAL_INVESTIGATOR

Texas Children's Hospital - Baylor College of Medicine

Study Locations (Sites)

Texas Children's Hospital

Houston, Texas, 77030

United States

Collaborators and Investigators

Sponsor: Baylor College of Medicine

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-03-13

Study Completion Date2027-03

Study Record Updates

Study Start Date2024-03-13

Study Completion Date2027-03

Terms related to this study

Keywords Provided by Researchers

Smith-Magenis syndrome (SMS)
Potocki-Lupski Syndrome (PTLS)
RAI1-related disorders
Retinoic Acid-Induced 1-related disorders

Additional Relevant MeSH Terms

RAI1 Gene 17P11.2 Deletion+Duplication