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Chromosome 18 Clinical Research Center (Chromosome18)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by The University of Texas Health Science Center at San Antonio
Sponsor:
Information provided by (Responsible Party):
The University of Texas Health Science Center at San Antonio
ClinicalTrials.gov Identifier:
NCT00227253
First received: September 14, 2005
Last updated: September 26, 2016
Last verified: September 2016
  Purpose
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.

Condition Intervention
Chromosome Aberrations
Growth Hormone Deficiency
Hypomyelination
Procedure: Determination of growth hormone status
Procedure: Measurement of growth, thyroid and sex hormone levels
Procedure: Behavior and neuropsychometric evaluations
Procedure: Audiological and ear, nose and throat examination
Procedure: Magnetic resonance imaging of the brain
Procedure: Dysmorphology evaluation
Procedure: Neurology examination
Procedure: Dental evaluation
Procedure: Speech pathology evaluation
Procedure: Psychiatric evaluation
Procedure: Orthopedic evaluation
Procedure: Ophthalmologic evaluation
Procedure: Gastrointestinal evaluation

Study Type: Observational
Official Title: The Chromosome 18 Clinical Research Center

Resource links provided by NLM:


Further study details as provided by The University of Texas Health Science Center at San Antonio:

Primary Outcome Measures:
  • Primary [ Time Frame: Ongoing ] [ Designated as safety issue: No ]
    Provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities


Biospecimen Retention:   Samples With DNA
blood specimens are collected from study participant and both biological parents if available and are processed for DNA and to establish cell lines

Estimated Enrollment: 1000
Study Start Date: September 1993
Estimated Study Completion Date: December 2025
Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)
Intervention Details:
    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.
Detailed Description:

Protocol Summary:

The hypotheses are:

  1. growth hormone (GH) deficiency in children with chromosome 18 deletions is accompanied by cognitive and microstructural abnormalities of the brain that can be ameliorated by GH treatment; and
  2. the physical and behavioral findings in individuals with abnormalities of chromosome 18 are due to the genes that present in a non-diploid number.

Therefore, correlation of the physical and behavioral findings with the extent of the deletion will help identify the genes involved. An understanding of the molecular mechanisms of the phenotype will provide the insight necessary to devise appropriate therapies.

Our goals are:

  1. to be the international medical and education resource for the families of individuals with chromosome 18 abnormalities;
  2. to perform and facilitate both clinical and basic research relating to the disorders of chromosome 18; and
  3. to devise treatments to help these individuals overcome the negative effects of their chromosome abnormality.

To attain these goals, the study has the following specific aims:

  1. perform genotypic molecular analysis on the DNA of the subjects and their biological parents to determine the genotype of the affected individual;
  2. gather comprehensive clinical data on individuals with chromosome 18 abnormalities including:

    1. determination of growth hormone levels;
    2. measurement of corticotrophin, thyroid and sex hormones;
    3. psychiatric and neuropsychological evaluations;
    4. audiology and ENT testing;
    5. brain MRI scan;
    6. genetic dysmorphology examination;
    7. neurology exam;
    8. dental exam;
    9. speech pathology evaluation;
    10. gastrointestinal exam;
    11. orthopedic exam;
    12. ophthalmology exam.

The phenotypical assessment will be longitudinal; therefore, the participants will have a wide age range. This extensive range plus the fact that some participants will be assessed multiple times means that not all components of the clinical studies will be appropriate for every subject at every visit.

  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study 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
Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00227253

Contacts
Contact: Jannine D. Cody, Ph.D. 210-567-9220 cody@uthscsa.edu
Contact: Daniel E. Hale, M.D. 210-567-5284 hale@uthscsa.edu

Locations
United States, Texas
University of Texas Health Science Center at San Antonio Recruiting
San Antonio, Texas, United States, 78229
Contact: Jannine D Cody, Ph.D.    210-567-9220    cody@uthscsa.edu   
Contact: Daniel E Hale, M.D.    210-567-5284    hale@uthscsa.edu   
Principal Investigator: Jannine D. Cody, Ph.D.         
Sub-Investigator: Peter T. Fox, M.D.         
Principal Investigator: Daniel E. Hale, M.D.         
Sub-Investigator: Brian P Perry, M.D.         
Sponsors and Collaborators
The University of Texas Health Science Center at San Antonio
Investigators
Principal Investigator: Jannine D. Cody, Ph.D. The University of Texas Health Science Center at San Antonio
Principal Investigator: Daniel E. Hale, M.D. The University of Texas Health Science Center at San Antonio
  More Information

Additional Information:
Publications:
Schaub RL, Cody JD, Hale DE. Growth disorders in the chromosome 18 syndromes. Highlights 9:3-5, 2001

Responsible Party: The University of Texas Health Science Center at San Antonio
ClinicalTrials.gov Identifier: NCT00227253     History of Changes
Other Study ID Numbers: Chromosome 18  IRB: 990-9000-318 
Study First Received: September 14, 2005
Last Updated: September 26, 2016
Health Authority: United States: Institutional Review Board

Keywords provided by The University of Texas Health Science Center at San Antonio:
Phenotype
Growth
Genotype
Chromosome 18

Additional relevant MeSH terms:
Dwarfism, Pituitary
Dwarfism
Chromosome Aberrations
Chromosome Disorders
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Bone Diseases, Endocrine
Hypopituitarism
Pituitary Diseases
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Endocrine System Diseases
Pathologic Processes
Congenital Abnormalities
Genetic Diseases, Inborn
Hormones
Hormones, Hormone Substitutes, and Hormone Antagonists
Physiological Effects of Drugs

ClinicalTrials.gov processed this record on December 02, 2016