Recruiting

Chromosome 18 Abnormalities

Sponsor:

The University of Texas Health Science Center at San Antonio

Code:

NCT00227253

Conditions

Chromosome Aberrations

Growth Hormone Deficiency

Hypomyelination

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Interventions

Determination of growth hormone status

Measurement of growth, thyroid and sex hormone levels

Behavior and neuropsychometric evaluations

Audiological and ear, nose and throat examination

Magnetic resonance imaging of the brain

Study Details

Brief 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

Study ID

NCT00227253

Start date

Sep, 1993

Status verified date

Jan, 2026

Completion date

Dec, 2040

Anticipated

Primary completion date

Dec, 2040

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Pregnant women
  • Dead fetuses
  • Prisoners
  • Non-viable neonates or neonates of uncertain viability

Study Design

Enrollment

4000 participants

Anticipated

Interventions and Outcome Measures

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.

Primary outcome measure

  • Primary [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Jannine D. Cody, Ph.D.

210-567-9220cody@uthscsa.edu

Jonathan Gelfond, M.D., Ph.D.

210-567-0851gelfondjal@uthscsa.edu

Locations

University Health Systems Hospital

Recruiting

San Antonio, Texas, United States, 78229

Contacts

Janinne Cody, PhD

210-567-9220cody@uthscsa.edu

Principal Investigator:

Kameel M. Karkar, M.D.

University of Texas Health Science Center at San Antonio

Recruiting

San Antonio, Texas, United States, 78229

Contacts

Jannine D Cody, Ph.D.

210-567-9220cody@uthscsa.edu

Jonathan Gelfond, M.D., Ph.D.

210-567-0851gelfondjal@uthscsa.edu

Principal Investigator:

Jannine D. Cody, Ph.D.

More Information

Sponsor

The University of Texas Health Science Center at San Antonio

Last update posted

Jan 6, 2026

Last verified

Jan, 2026

Keywords

  • Phenotype
  • Growth
  • Genotype
  • Chromosome 18

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by The University of Texas Health Science Center at San Antonio on 2026-01-06.