Clinical Trials Logo

Clinical Trial 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.


Clinical Trial 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 Design


Related Conditions & MeSH terms


NCT number NCT00227253
Study type Observational
Source The University of Texas Health Science Center at San Antonio
Contact Jannine D. Cody, Ph.D.
Phone 210-567-9220
Email cody@uthscsa.edu
Status Recruiting
Phase
Start date September 1993
Completion date December 2040

See also
  Status Clinical Trial Phase
Recruiting NCT02243852 - Effects of Growth Hormone (GH) Deficiency and Growth Hormone Replacement on Serum Fibroblast Growth Factor 21 (FGF21) N/A
Completed NCT01440686 - Safety, Pharmacokinetics and Pharmacodynamics Study of HL-032 in Healthy Male Volunteers Phase 1
Completed NCT00990340 - Comparison of a Needle-free Injection Method With a Needle-syringe Injection Method Phase 4
Completed NCT00235599 - The IGFBP-3 Stimulation Test: A New Tool for the Diagnosis of Growth Hormone Deficiency in Children. N/A
Completed NCT00149708 - Consequence of Lifetime Isolated Growth Hormone Deficiency N/A
Completed NCT00459940 - The Effects of TZD on Fat Metabolism and Insulin Sensitivity in GH-Replaced GHD Patients N/A
Completed NCT01157793 - A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in Growth Hormone Deficient(GHD) Subjects During the Transition Phase From Childhood to Adulthood Phase 4
Completed NCT00004365 - Study of Pituitary Size and Function in Familial Dwarfism of Sindh N/A
Recruiting NCT04121780 - Growth Hormone Replacement Therapy for Retried Professional Football Players Phase 2
Completed NCT02934399 - Dynamic Hormone Diagnostics in Endocrine Disease
Completed NCT01090778 - Diurnal Variation of Exogenous Peptides (GH Puls/Jurgita I) Phase 2
Completed NCT00965484 - Genotropin Study Assessing Use of Injection Pen Phase 3
Completed NCT01062529 - Peripheral Metabolic Effects of Somatostatin N/A
Completed NCT00616278 - National Cooperative Growth Study in CKD N/A
Completed NCT02693522 - Evaluation of Efficacy and Safety of Recombinant Somatroipn in Patients With Growth Hormone Deficiency Phase 3
Recruiting NCT02908958 - Clinical Study of Pegylated Somatropin to Treat Children Growth Hormone Deficiency Phase 4
Terminated NCT01243892 - A Study to Evaluate Growth in Participants Treated With Somatropin (Nutropin) Using NuSpin Device N/A
Withdrawn NCT00638287 - Inter-Assay Growth Hormone and IGF-I Variability N/A
Completed NCT00929799 - Growth Hormone and Glucose Metabolism Phase 4
Completed NCT00957671 - Anterior Pituitary Hormone Replacement in Traumatic Brain Injury Phase 4