Ignite Creation Date:
2024-05-05 @ 12:02 PM
Last Modification Date:
2024-10-26 @ 9:19 AM
Study NCT ID:
NCT00227253
Status:
RECRUITING
Last Update Posted:
2023-11-08
First Post:
2005-09-14
Brief Title:
Chromosome 18 Clinical Research Center
Sponsor:
The University of Texas Health Science Center at San Antonio
Organization:
The University of Texas Health Science Center at San Antonio
Study Overview
Official Title:
The Chromosome 18 Clinical Research Center
Status:
RECRUITING
Status Verified Date:
2023-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
Chromosome18
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 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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 5M01RR001346 | NIH | None | httpsreporternihgovquickSearch5M01RR001346 |