Chromosome 18 Clinical Research Center

NCT00227253 | Recruiting

• 2 other identifiers: Chromosome 185M01RR001346
• Study Type: observational
• Target: 4,000
• Locations: 1 country
• Sites: 2

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.

Conditions

Chromosome Aberrations; Growth Hormone Deficiency; Hypomyelination

Keywords

Phenotype; Growth; Genotype; Chromosome 18

Outcome Measures

Primary Outcomes (1)

• Primary

  Provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities

  Ongoing

Interventions

Measurement of growth, thyroid and sex hormone levels PROCEDURE

Gonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered

Behavior and neuropsychometric evaluations PROCEDURE

evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history

Audiological and ear, nose and throat examination PROCEDURE

neurotological exam, behavioral audiometry, immittance audiometry, assessment of the function of the inner ear using otoacoustic emissions, Auditory brain responses

Magnetic resonance imaging of the brain PROCEDURE

MRI of the brain - standard clinical procedure

Dysmorphology evaluation PROCEDURE

Genetic evaluation with picture and measurements, physical exam

Neurology examination PROCEDURE

physical examination including observation of balance, coordination and reflexes.

Dental evaluation PROCEDURE

Visual detal inspection with panorex X-ray of the entire mouth

Speech pathology evaluation PROCEDURE

Standardized speech \& language tests and naturalistic assessment procedures.

Psychiatric evaluation PROCEDURE

Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained

Orthopedic evaluation PROCEDURE

Physical exam by orthopedic surgeon and a dysplasia series of radiographs including AP and lateral radiographics of the feet, APs of the knees, pelvis, thoracic lumbar spine and chest, laterals of thoracic lumbar and cervical spine, lateral of the skull, AP and lateral of the forearm, bone age evaluation with radiograph of left hand

Ophthalmologic evaluation PROCEDURE

exam will determine visual acuity using one of the following: Snellen chart, Allen acuity, target acuity, optokinetic nystagmus (OKN), or Teller acuity depending on study participants ability level. Motility/alignment will also be determined using cover/uncover test. Pupils examined using slit lamp. Dilated fundus exam and cycloplegic refraction which will require dilating drops in both eyes. Cyclogen 1% and NeuSynephrine 2.5% are using. In children less than 6 months old, less potent mydriatrics and cycloplegics are used Cyclogel 0.5% or Tropicamide 1%. Intraocular pressure will be measured in adults and cooperative teens using applanation tonometry. A topical anesthetic will be used to perform this measurement.

Gastrointestinal evaluation PROCEDURE

physical exam and medical history by board certified gastroenterologist.

Determination of growth hormone status PROCEDURE

Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• The University of Texas Health Science Center at San Antonio: lead
• National Center for Research Resources (NCRR): collaborator

Study Sites (2)

University Health Systems Hospital

San Antonio, Texas, 78229, United States

RECRUITING

University of Texas Health Science Center at San Antonio

San Antonio, Texas, 78229, United States

RECRUITING

Related Publications (25)

• 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 RESULT

• 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 RESULT

• 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 RESULT

• 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 RESULT

• 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 RESULT

• 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 RESULT

• 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 RESULT

• Schaub RL, Cody JD, Hale DE. Growth disorders in the chromosome 18 syndromes. Highlights 9:3-5, 2001

  RESULT

• Hermesch CB, Cody JT, Cody JD. Dental caries history in nine children with chromosome 18p deletion syndrome. Spec Care Dentist. 2000 Mar-Apr;20(2):53-5. doi: 10.1111/j.1754-4505.2000.tb01143.x.

  PMID: 11203878 RESULT

• Hale DE, Cody JD, Baillargeon J, Schaub R, Danney MM, Leach RJ. The spectrum of growth abnormalities in children with 18q deletions. J Clin Endocrinol Metab. 2000 Dec;85(12):4450-4. doi: 10.1210/jcem.85.12.7016.

  PMID: 11134092 RESULT

• Cody JD, Reveles XT, Hale DE, Lehman D, Coon H, Leach RJ. Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q. Hum Genet. 1999 Nov;105(5):424-7. doi: 10.1007/s004390051125.

  PMID: 10598807 RESULT

• Wang Z, Cody JD, Leach RJ, O'Connell P. Gene expression patterns in cell lines from patients with 18q- syndrome. Hum Genet. 1999 Jun;104(6):467-75. doi: 10.1007/s004390050989.

  PMID: 10453734 RESULT

• Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub RL, Leach RJ, Kaye CI. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet. 1999 Aug 27;85(5):455-62. doi: 10.1002/(sici)1096-8628(19990827)85:53.0.co;2-z.

  PMID: 10405442 RESULT

• Brkanac Z, Cody JD, Leach RJ, DuPont BR. Identification of cryptic rearrangements in patients with 18q- deletion syndrome. Am J Hum Genet. 1998 Jun;62(6):1500-6. doi: 10.1086/301854.

  PMID: 9585582 RESULT

• Keppler-Noreuil KM, Carroll AJ, Finley SC, Descartes M, Cody JD, DuPont BR, Gay CT, Leach RJ. Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss. Am J Med Genet. 1998 Apr 13;76(5):372-8. doi: 10.1002/(sici)1096-8628(19980413)76:53.0.co;2-p.

  PMID: 9556294 RESULT

• Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ. Growth hormone insufficiency associated with haploinsufficiency at 18q23. Am J Med Genet. 1997 Sep 5;71(4):420-5.

  PMID: 9286448 RESULT

• Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Cornell JE, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT. Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency. Am J Med Genet. 1997 Jul 25;74(4):422-31. doi: 10.1002/(sici)1096-8628(19970725)74:43.0.co;2-k.

  PMID: 9259379 RESULT

• Cody JD, Pierce JF, Brkanac Z, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. Preferential loss of the paternal alleles in the 18q- syndrome. Am J Med Genet. 1997 Mar 31;69(3):280-6. doi: 10.1002/(sici)1096-8628(19970331)69:33.0.co;2-n.

  PMID: 9096757 RESULT

• Ghidoni PD, Hale DE, Cody JD, Gay CT, Thompson NM, McClure EB, Danney MM, Leach RJ, Kaye CI. Growth hormone deficiency associated in the 18q deletion syndrome. Am J Med Genet. 1997 Mar 3;69(1):7-12. doi: 10.1002/(sici)1096-8628(19970303)69:13.0.co;2-p.

  PMID: 9066876 RESULT

• Carter E, Heard P, Hasi M, Soileau B, Sebold C, Hale DE, Cody JD. Ring 18 molecular assessment and clinical consequences. Am J Med Genet A. 2015 Jan;167A(1):54-63. doi: 10.1002/ajmg.a.36822. Epub 2014 Oct 22.

  PMID: 25339348 RESULT

• Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE. Consequences of chromsome18q deletions. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):265-80. doi: 10.1002/ajmg.c.31446. Epub 2015 Aug 3.

  PMID: 26235940 RESULT

• Cody JD, Hale DE. Making chromosome abnormalities treatable conditions. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):209-15. doi: 10.1002/ajmg.c.31447.

  PMID: 26351122 RESULT

• Hasi-Zogaj M, Sebold C, Heard P, Carter E, Soileau B, Hill A, Rupert D, Perry B, Atkinson S, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE, Cody JD. A review of 18p deletions. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):251-64. doi: 10.1002/ajmg.c.31445. Epub 2015 Aug 6.

  PMID: 26250845 RESULT

• Sebold C, Soileau B, Heard P, Carter E, O'Donnell L, Hale DE, Cody JD. Whole arm deletions of 18p: medical and developmental effects. Am J Med Genet A. 2015 Feb;167A(2):313-23. doi: 10.1002/ajmg.a.36880. Epub 2015 Jan 14.

  PMID: 25586871 RESULT

• Cody JD, Hasi M, Soileau B, Heard P, Carter E, Sebold C, O'Donnell L, Perry B, Stratton RF, Hale DE. Establishing a reference group for distal 18q-: clinical description and molecular basis. Hum Genet. 2014 Feb;133(2):199-209. doi: 10.1007/s00439-013-1364-6. Epub 2013 Oct 5.

  PMID: 24092497 RESULT

Related Links

• Click here for more information about this study: The Chromosome 18 Clinical Research Center
• The Chromosome 18 Registry \& Research Society is a lay advocacy organization composed primarily of the parents of individuals with one of the chromosome 18 abnormalities.

Biospecimen

Retention: SAMPLES WITH DNA

blood specimens are collected from study participant and both biological parents if available and are processed for DNA and to establish cell lines

MeSH Terms

Conditions

Chromosome Aberrations; Dwarfism, Pituitary

Interventions

Thyroid (USP)

Condition Hierarchy (Ancestors)

Pathologic Processes; Pathological Conditions, Signs and Symptoms; Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Bone Diseases, Endocrine; Hypopituitarism; Pituitary Diseases; Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

Thyroid Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists

Study Officials

• Jannine D. Cody, Ph.D.

  The University of Texas Health Science Center at San Antonio

  PRINCIPAL INVESTIGATOR

• Jonathan Gelfond, M.D., Ph.D.

  The University of Texas Health Science Center at San Antonio

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jannine D. Cody, Ph.D.

CONTACT

210-567-9220; cody@uthscsa.edu

Jonathan Gelfond, M.D., Ph.D.

CONTACT

210-567-0851; gelfondjal@uthscsa.edu

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 14, 2005
• First Posted: September 27, 2005
• Study Start: September 1, 1993
• Primary Completion (Estimated): December 1, 2040
• Study Completion (Estimated): December 1, 2040
• Last Updated: January 6, 2026

Record last verified: 2026-01

Locations

US (2)