Chromosome 18 Clinical Research Center

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Brief Title

Chromosome 18 Clinical Research Center

Official Title

The Chromosome 18 Clinical Research Center

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.

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

             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


Primary Outcome



Chromosome Aberrations


Determination of growth hormone status


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

September 1993

Completion Date

December 2040

Primary Completion Date

December 2040

Eligibility 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




N/A - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers


Jannine D. Cody, Ph.D., 210-567-9220, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID

Chromosome 18

Secondary IDs

IRB: 990-9000-318

Responsible Party


Study Sponsor

The University of Texas Health Science Center at San Antonio

Study Sponsor

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

Verification Date

October 2021