Exploring biomarkers in RAI1-related disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to develop clinical, neurophysiology, and molecular biomarkers for RAI1-related disorders, specifically Smith-Magenis syndrome and Potocki-Lupski Syndrome. It will enroll 20 patients from each disorder and up to 50 healthy controls, focusing on characterizing disease features and identifying overlapping traits. Participants will undergo a series of assessments, including medical history, physical examinations, polysomnography, and blood sample collection, to gather comprehensive data. The study seeks to establish measures that could inform future treatment efficacy.

Why it matters

Who can join: the full rules

Inclusion 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.

Control group:

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

Exclusion Criteria:

* 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.

Where it's running

• Texas Children's Hospital
  Houston, Texas, United States Recruiting

Study contacts

• Principal investigator: Davut Pehlivan, MD — Texas Children's Hospital - Baylor College of Medicine
• Study coordinator: Davut Pehlivan, MD
• Email: pehlivan@bcm.edu
• Phone: (713) 798-6970

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• GelPOINT Path-assisted endoscopic removal of colorectal polyps

  This study tests whether using the GelPOINT Path access platform during endoscopic submucosal dissection can safely help remove colorectal polyps in adults.

  Recruiting Baylor College of Medicine · Houston, Texas · NCT07723937

• Acceptance Based Coping Skills for Hispanic/Latino Military Patients With Type 2 Diabetes

  A bilingual health coach will lead a 10-week telehealth program to help Hispanic/Latino military patients with type 2 diabetes manage their condition better.

  Recruiting Baylor College of Medicine · San Antonio, Texas · NCT07674628

• Postoperative Pain After Pediatric Adenotonsillectomy: Ibuprofen Plus Tylenol vs Ketorolac Plus Tylenol

  This observational study will see if teens (13-18) who have adenotonsillectomy and take acetaminophen with ibuprofen or acetaminophen with ketorolac after discharge experience different levels of pain and recovery.

  Recruiting Baylor College of Medicine · Houston, Texas · NCT07672418

• Non-invasive brain stimulation to try to improve memory in early Alzheimer's

  Scientists test whether repetitive transcranial magnetic stimulation to the cerebellum can help short-term memory in people with early Alzheimer's disease compared with a sham procedure.

  Recruiting Baylor College of Medicine · Houston, Texas · NCT07667478

• Using a steroid cream to prevent repeat urinary tract infections in uncircumcised baby boys

  This pilot will test whether applying a steroid cream twice weekly for four weeks can help prevent repeat urinary tract infections in uncircumcised male infants under 6 months who have had a first UTI.

  Recruiting Phase 4 Baylor College of Medicine · Houston, Texas and 2 other locations · NCT07508124

• Speedboat UltraSlim™ for POEM in adults with achalasia and other esophageal motility disorders.

  This registry will see if using the Speedboat UltraSlim™ device for POEM is safe and effective for adults with achalasia or other esophageal motility disorders.

  Recruiting Baylor College of Medicine · Houston, Texas · NCT07496840

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.