Clinical and Molecular Biomarker Studies in RAI1 (Retinoic Acid-Induced 1) -Related Disorders
Status: Not yet recruiting

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:
- EligibilityCriteria: 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. - HealthyVolunteers: Accepts Healthy Volunteers - Gender: All - MinimumAge: 1 Month - MaximumAge: 80 Years - StdAgeList: Child, Adult, Older Adult - StudyPopulation: 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. - SamplingMethod: Non-Probability Sample