Chromosome 18 Clinical Research Center (Chromosome18)

The Chromosome 18 Clinical Research Center

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.

Study Overview

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.

Study Type

Observational

Enrollment (Estimated)

4000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Jannine D. Cody, Ph.D.
  • Phone Number: 210-567-9220
  • Email: cody@uthscsa.edu

Study Contact Backup

Study Locations

    • Texas
      • San Antonio, Texas, United States, 78229
        • Recruiting
        • University Health Systems Hospital
        • Contact:
      • San Antonio, Texas, United States, 78229
        • Recruiting
        • University of Texas Health Science Center at San Antonio
        • Contact:
        • Contact:
        • 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.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Primary
Time Frame: Ongoing
Provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities
Ongoing

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Daniel E. Hale, M.D., The University of Texas Health Science Center at San Antonio
  • Principal Investigator: Jannine D. Cody, Ph.D., The University of Texas Health Science Center at San Antonio

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 1993

Primary Completion (Estimated)

December 1, 2040

Study Completion (Estimated)

December 1, 2040

Study Registration Dates

First Submitted

September 14, 2005

First Submitted That Met QC Criteria

September 23, 2005

First Posted (Estimated)

September 27, 2005

Study Record Updates

Last Update Posted (Actual)

November 8, 2023

Last Update Submitted That Met QC Criteria

November 7, 2023

Last Verified

November 1, 2023

More Information

Terms related to this study

Other Study ID Numbers

  • Chromosome 18
  • 5M01RR001346 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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