Chromosome 18 Clinical Research Center

Conditions

• Chromosome Aberrations
• Growth Hormone Deficiency
• Hypomyelination

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Accepted

Interventions

• Determination of growth hormone status — PROCEDURE
  Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test
• Measurement of growth, thyroid and sex hormone levels — PROCEDURE
  Gonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered
• Behavior and neuropsychometric evaluations — PROCEDURE
  evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history
• Audiological and ear, nose and throat examination — PROCEDURE
  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 — PROCEDURE
  MRI of the brain - standard clinical procedure
• Dysmorphology evaluation — PROCEDURE
  Genetic evaluation with picture and measurements, physical exam
• Neurology examination — PROCEDURE
  physical examination including observation of balance, coordination and reflexes.
• Dental evaluation — PROCEDURE
  Visual detal inspection with panorex X-ray of the entire mouth
• Speech pathology evaluation — PROCEDURE
  Standardized speech \& language tests and naturalistic assessment procedures.
• Psychiatric evaluation — PROCEDURE
  Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained
• Orthopedic evaluation — PROCEDURE
  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 — PROCEDURE
  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 — PROCEDURE
  physical exam and medical history by board certified gastroenterologist.

Study Details

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.

Key Dates

Start date

Sep 30, 1993

Status verified

Jan 2026

Primary completion

Dec 31, 2040

Completion

Dec 31, 2040

Study Design

Enrollment

4,000 participants (estimated)

Primary Outcome Measure

Primary [ Time Frame: Ongoing ]

Central Contacts

• Jannine D. Cody, Ph.D.
  210-567-9220
  [email protected]
• Jonathan Gelfond, M.D., Ph.D.
  210-567-0851
  [email protected]

Locations (2)

Find similar trials in San Antonio, TX

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