Chromosome 18 Clinical Research Center

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.

Conditions

• Chromosome Aberrations
• Growth Hormone Deficiency
• Hypomyelination

Interventions

PROCEDURE

Determination of growth hormone status

Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test

PROCEDURE

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

PROCEDURE

Behavior and neuropsychometric evaluations

evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history

PROCEDURE

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

PROCEDURE

Magnetic resonance imaging of the brain

MRI of the brain - standard clinical procedure

PROCEDURE

Dysmorphology evaluation

Genetic evaluation with picture and measurements, physical exam

PROCEDURE

Neurology examination

physical examination including observation of balance, coordination and reflexes.

PROCEDURE

Dental evaluation

Visual detal inspection with panorex X-ray of the entire mouth

PROCEDURE

Speech pathology evaluation

Standardized speech \& language tests and naturalistic assessment procedures.

PROCEDURE

Psychiatric evaluation

Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained

PROCEDURE

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

PROCEDURE

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.

PROCEDURE

Gastrointestinal evaluation

physical exam and medical history by board certified gastroenterologist.

Sponsors & Collaborators

• National Center for Research Resources (NCRR)

  collaborator NIH

• The University of Texas Health Science Center at San Antonio

  lead OTHER

Principal Investigators

• Jannine D. Cody, Ph.D. · The University of Texas Health Science Center at San Antonio

• Jonathan Gelfond, M.D., Ph.D. · The University of Texas Health Science Center at San Antonio

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

1993-09-30

Primary Completion

2040-12-31

Completion

2040-12-31

Countries

• United States

Study Locations