Chromosome 18 Clinical Research Center
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorThe University of Texas Health Science Center at San Antonio
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Must have a confirmed diagnosis of Chromosome 18 or be the parent/guardian of a child with Chromosome 18
Subject must be at least one year of age to participate in the clinical examination aspect of the study (due to issues of venous access and blood volume required to complete studies)
General health status: good
Disqualifiers
Pregnant women
Dead fetuses
Prisoners
Non-viable neonates or neonates of uncertain viability
Trial population
Must have a confirmed diagnosis of Chromosome 18 or be the parent/guardian of a child with Chromosome 18 * Subject must be at least one year of age to participate in the clinical examination aspect of the study (due to issues of venous access and blood volume required to complete studies) * General health status: good
Trial design
Design model
Other
Time perspective
Other
Treatments tested in this trial
Determination of growth hormone status
Procedure/SurgeryGrowth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test
Measurement of growth, thyroid and sex hormone levels
Procedure/SurgeryGonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered
Behavior and neuropsychometric evaluations
Procedure/Surgeryevaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history
Audiological and ear, nose and throat examination
Procedure/Surgeryneurotological 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
Procedure/SurgeryMRI of the brain - standard clinical procedure
Dysmorphology evaluation
Procedure/SurgeryGenetic evaluation with picture and measurements, physical exam
Neurology examination
Procedure/Surgeryphysical examination including observation of balance, coordination and reflexes.
Dental evaluation
Procedure/SurgeryVisual detal inspection with panorex X-ray of the entire mouth
Speech pathology evaluation
Procedure/SurgeryStandardized speech \& language tests and naturalistic assessment procedures.
Psychiatric evaluation
Procedure/SurgeryPsychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained
Orthopedic evaluation
Procedure/SurgeryPhysical 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
Procedure/Surgeryexam 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
Procedure/Surgeryphysical exam and medical history by board certified gastroenterologist.
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Primary
Provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities
Time frame
OngoingSponsors and contacts
Click on the lead sponsor to view all of their trials.
The University of Texas Health Science Center at San Antonio
Lead sponsor
National Center for Research Resources (NCRR)
Collaborator
Source ClinicalTrials.gov