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Chromosome 18 Clinical Research Center
Sponsor: The University of Texas Health Science Center at San Antonio
Summary
Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. Our goals are to provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities; perform and facilitate groundbreaking clinical and basic research relating to the syndromes of chromosome 18; and to provide treatments to help these individuals overcome the effects of their chromosome abnormality.
Official title: The Chromosome 18 Clinical Research Center
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
4000
Start Date
1993-09
Completion Date
2040-12
Last Updated
2026-01-06
Healthy Volunteers
Yes
Interventions
Determination of growth hormone status
Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test
Measurement of growth, thyroid and sex hormone levels
Gonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered
Behavior and neuropsychometric evaluations
evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history
Audiological and ear, nose and throat examination
neurotological exam, behavioral audiometry, immittance audiometry, assessment of the function of the inner ear using otoacoustic emissions, Auditory brain responses
Magnetic resonance imaging of the brain
MRI of the brain - standard clinical procedure
Dysmorphology evaluation
Genetic evaluation with picture and measurements, physical exam
Neurology examination
physical examination including observation of balance, coordination and reflexes.
Dental evaluation
Visual detal inspection with panorex X-ray of the entire mouth
Speech pathology evaluation
Standardized speech \& language tests and naturalistic assessment procedures.
Psychiatric evaluation
Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained
Orthopedic evaluation
Physical exam by orthopedic surgeon and a dysplasia series of radiographs including AP and lateral radiographics of the feet, APs of the knees, pelvis, thoracic lumbar spine and chest, laterals of thoracic lumbar and cervical spine, lateral of the skull, AP and lateral of the forearm, bone age evaluation with radiograph of left hand
Ophthalmologic evaluation
exam will determine visual acuity using one of the following: Snellen chart, Allen acuity, target acuity, optokinetic nystagmus (OKN), or Teller acuity depending on study participants ability level. Motility/alignment will also be determined using cover/uncover test. Pupils examined using slit lamp. Dilated fundus exam and cycloplegic refraction which will require dilating drops in both eyes. Cyclogen 1% and NeuSynephrine 2.5% are using. In children less than 6 months old, less potent mydriatrics and cycloplegics are used Cyclogel 0.5% or Tropicamide 1%. Intraocular pressure will be measured in adults and cooperative teens using applanation tonometry. A topical anesthetic will be used to perform this measurement.
Gastrointestinal evaluation
physical exam and medical history by board certified gastroenterologist.
Locations (2)
University Health Systems Hospital
San Antonio, Texas, United States
University of Texas Health Science Center at San Antonio
San Antonio, Texas, United States