Chromosome 18 Clinical Research Center

Официальное название

The Chromosome 18 Clinical Research Center

Обзор

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.

Подробное описание

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.

Вмешательства

• Процедура Determination of growth hormone status
  Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test
• Процедура Measurement of growth, thyroid and sex hormone levels
  Gonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered
• Процедура Behavior and neuropsychometric evaluations
  evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history
• Процедура Audiological and ear, nose and throat examination
  neurotological exam, behavioral audiometry, immittance audiometry, assessment of the function of the inner ear using otoacoustic emissions, Auditory brain responses
• Процедура Magnetic resonance imaging of the brain
  MRI of the brain - standard clinical procedure
• Процедура Dysmorphology evaluation
  Genetic evaluation with picture and measurements, physical exam
• Процедура Neurology examination
  physical examination including observation of balance, coordination and reflexes.
• Процедура Dental evaluation
  Visual detal inspection with panorex X-ray of the entire mouth
• Процедура Speech pathology evaluation
  Standardized speech \& language tests and naturalistic assessment procedures.
• Процедура Psychiatric evaluation
  Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained

Первичные конечные точки

• Primary [Срок оценки: Ongoing]

Критерии участия

Критерии включения

• 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

Критерии исключения

• Pregnant women
• Dead fetuses
• Prisoners
• Non-viable neonates or neonates of uncertain viability

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Модель наблюдения

Другое

Центры проведения

США · 2 центра

• University Health Systems Hospital — San Antonio
• University of Texas Health Science Center at San Antonio — San Antonio

Публикации

• Cody JD, Semrud-Clikeman M, Hardies LJ, Lancaster J, Ghidoni PD, Schaub RL, Thompson NM, Wells L, Cornell JE, Love TM, Fox PT, Leach RJ, Kaye CI, Hale DE. Growth hormone benefits children with 18q deletions. Am J Med Genet A. 2005 Aug 15;137(1):9-15. doi: 10.1002/ajmg.a.30848. PMID 16007630
• Lancaster JL, Cody JD, Andrews T, Hardies LJ, Hale DE, Fox PT. Myelination in children with partial deletions of chromosome 18q. AJNR Am J Neuroradiol. 2005 Mar;26(3):447-54. PMID 15760848
• Kochunov P, Lancaster J, Hardies J, Thompson PM, Woods RP, Cody JD, Hale DE, Laird A, Fox PT. Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization. Hum Brain Mapp. 2005 Apr;24(4):325-31. doi: 10.1002/hbm.20090. PMID 15704090
• Schaub RL, Hale DE, Rose SR, Leach RJ, Cody JD. The spectrum of thyroid abnormalities in individuals with 18q deletions. J Clin Endocrinol Metab. 2005 Apr;90(4):2259-63. doi: 10.1210/jc.2004-1630. Epub 2005 Jan 25. PMID 15671099
• Cody JD, Hale DE. Precision in phenotyping and genotyping. Am J Med Genet A. 2004 Dec 15;131(3):313. doi: 10.1002/ajmg.a.30263. No abstract available. PMID 15540176
• Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet A. 2003 Jul 1;120A(1):127-35. doi: 10.1002/ajmg.a.20026. PMID 12794705
• Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med. 2002 Jan-Feb;4(1):15-9. doi: 10.1097/00125817-200201000-00003. PMID 11839953
• Schaub RL, Cody JD, Hale DE. Growth disorders in the chromosome 18 syndromes. Highlights 9:3-5, 2001

Идентификаторы

NCT: NCT00227253 · Chromosome 18 · 5M01RR001346

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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