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Sponsors and Collaborators: |
The University of Texas Health Science Center at San Antonio South Texas Veterans Health Care System University Hospital CHRISTUS Santa Rosa Healthcare |
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Information provided by: | The University of Texas Health Science Center at San Antonio |
ClinicalTrials.gov Identifier: | NCT00227253 |
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 |
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Chromosome Aberrations Growth Hormone Deficiency Delayed Myelination |
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 |
Study Design: | Screening, Longitudinal, Defined Population, Retrospective/Prospective Study |
Official Title: | The Chromosome 18 Clinical Research Center |
Estimated Enrollment: | 180 |
Study Start Date: | September 1993 |
Protocol Summary:
The hypotheses are:
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:
To attain these goals, the study has the following specific aims:
gather comprehensive clinical data on individuals with chromosome 18 abnormalities including:
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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Inclusion Criteria:
Exclusion Criteria:
Contact: Jannine D. Cody, Ph.D. | 210-567-9220 | cody@uthscsa.edu |
Contact: Daniel E. Hale, M.D. | 210-567-5284 | hale@uthscsa.edu |
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: Robert J Ferry, Jr., M.D. | |
Sub-Investigator: Peter T. Fox, M.D. | |
Principal Investigator: Daniel E. Hale, M.D. | |
Sub-Investigator: Brian P Perry, M.D. | |
Sub-Investigator: Margaret Semrud-Clikeman, Ph.D. | |
Sub-Investigator: Robert F. Stratton, M.D. |
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 |
Study ID Numbers: | Chromosome 18, IRB: 990-9000-318 |
Study First Received: | September 14, 2005 |
Last Updated: | April 17, 2007 |
ClinicalTrials.gov Identifier: | NCT00227253 |
Health Authority: | United States: Institutional Review Board |
Phenotype Growth Genotype Chromosome 18 |
Dwarfism Bone Diseases, Endocrine Hypopituitary dwarfism Hypothalamic Diseases Pituitary Diseases Central Nervous System Diseases Endocrine System Diseases Dwarfism, Pituitary |
Brain Diseases Bone Diseases Growth hormone deficiency Musculoskeletal Diseases Hypopituitarism Chromosome Aberrations Bone Diseases, Developmental Endocrinopathy |
Pathologic Processes Nervous System Diseases |