Chromosome AberrationsChromosome18NCT00227253
Chromosome 18 Clinical Research Center
An observational study of Chromosome Aberrations and Growth Hormone Deficiency, run by The University of Texas Health Science Center at San Antonio at 2 sites in United States.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Chromosome Aberrations, Growth Hormone Deficiency, Hypomyelination
- What is being tested?
- Determination of growth hormone status, Measurement of growth, thyroid and sex hormone levels and Behavior and neuropsychometric evaluations
- Type of treatment
- Surgery or procedure
- How many people
- 4,000 participants
- Where
- 2 sitesUnited States
- Study dates
- Sep 1993to Dec 2040
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- Pregnant women
- Dead fetuses
- Prisoners
- Non-viable neonates or neonates of uncertain viability
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
University Health Systems Hospital
San Antonio, Texas, 78229
Janinne Cody, PhD, 210-567-9220, cody@uthscsa.edu
Kameel M. Karkar, M.D.
- Recruiting
University of Texas Health Science Center at San Antonio
San Antonio, Texas, 78229
Jannine D Cody, Ph.D., 210-567-9220, cody@uthscsa.edu
Jonathan Gelfond, M.D., Ph.D., 210-567-0851, gelfondjal@uthscsa.edu
About this study
Official title: The Chromosome 18 Clinical Research Center
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.
Read the detailed description
Protocol Summary:
The hypotheses are:
- 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
- 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:
- to be the international medical and education resource for the families of individuals with chromosome 18 abnormalities;
- to perform and facilitate both clinical and basic research relating to the disorders of chromosome 18; and
- 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:
- perform genotypic molecular analysis on the DNA of the subjects and their biological parents to determine the genotype of the affected individual;
- gather comprehensive clinical data on individuals with chromosome 18 abnormalities including:
- determination of growth hormone levels;
- measurement of corticotrophin, thyroid and sex hormones;
- psychiatric and neuropsychological evaluations;
- audiology and ENT testing;
- brain MRI scan;
- genetic dysmorphology examination;
- neurology exam;
- dental exam;
- speech pathology evaluation;
- gastrointestinal exam;
- orthopedic exam;
- 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.
- Being tested
- Determination of growth hormone status, Measurement of growth, thyroid and sex hormone levels, Behavior and neuropsychometric evaluations, Audiological and ear, nose and throat examination, Magnetic resonance imaging of the brain
- Keywords
- Phenotype, Growth, Genotype, Chromosome 18
- Medical subject headings
- Chromosome Aberrations, Dwarfism, Pituitary
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Determination of growth hormone statusProcedure or surgery
Growth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test
Measurement of growth, thyroid and sex hormone levelsProcedure or surgery
Gonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered
Behavior and neuropsychometric evaluationsProcedure or surgery
evaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history
Audiological and ear, nose and throat examinationProcedure or surgery
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 brainProcedure or surgery
MRI of the brain - standard clinical procedure
Dysmorphology evaluationProcedure or surgery
Genetic evaluation with picture and measurements, physical exam
Neurology examinationProcedure or surgery
physical examination including observation of balance, coordination and reflexes.
Dental evaluationProcedure or surgery
Visual detal inspection with panorex X-ray of the entire mouth
Speech pathology evaluationProcedure or surgery
Standardized speech \& language tests and naturalistic assessment procedures.
Psychiatric evaluationProcedure or surgery
Psychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained
Orthopedic evaluationProcedure or surgery
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 evaluationProcedure or surgery
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 evaluationProcedure or surgery
physical exam and medical history by board certified gastroenterologist.
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary
Provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Sep 2005 (estimated)
- Study startSep 1993
- Primary completionDec 2040 (estimated)
- Study completionDec 2040 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (25)Papers the sponsor has linked to this study.
- Other trials for Chromosome AberrationsStudies of the same condition, open and under way.
- More trials run by The University of Texas Health Science Center at San AntonioThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 4,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- National Center for Research Resources (NCRR)
- Responsible party
- Sponsor
- Investigators
- Jannine D. Cody, Ph.D., Principal investigator, The University of Texas Health Science Center at San AntonioJonathan Gelfond, M.D., Ph.D., Principal investigator, The University of Texas Health Science Center at San Antonio
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00227253
- Sponsor's protocol ID
- Chromosome 18
- Other IDs
- 5M01RR001346
- Acronym
- Chromosome18
- Status last verified
- Jan 2026
- First submitted
- 14 Sep 2005
- Last updated
- 6 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 16007630Lancaster 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.
PubMed 15760848Kochunov 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.
PubMed 15704090Schaub 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.
PubMed 15671099Cody 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.
PubMed 15540176Gunn 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.
PubMed 12794705Schaub 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.
PubMed 11839953Schaub RL, Cody JD, Hale DE. Growth disorders in the chromosome 18 syndromes. Highlights 9:3-5, 2001
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.
PubMed 11203878Hale 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.
PubMed 11134092Cody 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.
PubMed 10598807Wang 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.
PubMed 10453734Cody 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.
PubMed 10405442Brkanac 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.
PubMed 9585582Keppler-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.
PubMed 9556294
Study at a glance
From the registry record, last updated by the sponsor on 6 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Chromosome 18 Clinical Research Center
- ClinicalTrials.gov ID
- NCT00227253
- Acronym / sponsor ID
- Chromosome18 / Chromosome 18
- Keywords
- Phenotype, Growth, Genotype, Chromosome 18
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 4,000 participants (estimated)
- Lead sponsor
- The University of Texas Health Science Center at San AntonioUniversity, hospital or other
- Collaborators
- National Center for Research Resources (NCRR)
- Study start
- Sep 1993
- Primary completion
- Dec 2040 (estimated)
- Study completion
- Dec 2040 (estimated)
- First posted
- 27 Sep 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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
- 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:
- to be the international medical and education resource for the families of individuals with chromosome 18 abnormalities;
- to perform and facilitate both clinical and basic research relating to the disorders of chromosome 18; and
- 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:
- perform genotypic molecular analysis on the DNA of the subjects and their biological parents to determine the genotype of the affected individual;
- gather comprehensive clinical data on individuals with chromosome 18 abnormalities including:
- determination of growth hormone levels;
- measurement of corticotrophin, thyroid and sex hormones;
- psychiatric and neuropsychological evaluations;
- audiology and ENT testing;
- brain MRI scan;
- genetic dysmorphology examination;
- neurology exam;
- dental exam;
- speech pathology evaluation;
- gastrointestinal exam;
- orthopedic exam;
- 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
- Observational model
- Other
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- Pregnant women
- Dead fetuses
- Prisoners
- Non-viable neonates or neonates of uncertain viability
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Determination of growth hormone statusGrowth hormone stimulating testing using Arginine and Clonidine, Corticotrophin releasing hormone stimulation test | Procedure or surgery | – |
| Measurement of growth, thyroid and sex hormone levelsGonadotrophin releasing hormone stimulation test Thyroid testing - T4, TSH, T3 uptake, and anti-thyroidal antibodies baseline sample - no medication administered | Procedure or surgery | – |
| Behavior and neuropsychometric evaluationsevaluation by neuropsychologist, standardized testing geared to study participant's age, abilities and past medical history | Procedure or surgery | – |
| Audiological and ear, nose and throat examinationneurotological exam, behavioral audiometry, immittance audiometry, assessment of the function of the inner ear using otoacoustic emissions, Auditory brain responses | Procedure or surgery | – |
| Magnetic resonance imaging of the brainMRI of the brain - standard clinical procedure | Procedure or surgery | – |
| Dysmorphology evaluationGenetic evaluation with picture and measurements, physical exam | Procedure or surgery | – |
| Neurology examinationphysical examination including observation of balance, coordination and reflexes. | Procedure or surgery | – |
| Dental evaluationVisual detal inspection with panorex X-ray of the entire mouth | Procedure or surgery | – |
| Speech pathology evaluationStandardized speech \& language tests and naturalistic assessment procedures. | Procedure or surgery | – |
| Psychiatric evaluationPsychiatric interview about history of psychiatric and medical illnesses, family psychiatric and medical history, demographic info also obtained | Procedure or surgery | – |
| Orthopedic evaluationPhysical 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 | Procedure or surgery | – |
| Ophthalmologic evaluationexam 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. | Procedure or surgery | – |
| Gastrointestinal evaluationphysical exam and medical history by board certified gastroenterologist. | Procedure or surgery | – |
Primary outcome
Primary
Time frame: Ongoing
Provide definitive medical and education resources for the families of individuals with chromosome 18 abnormalities
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jan 2026.
- Results publication: PubMed 16007630Cody 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.
- Results publication: PubMed 15760848Lancaster 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.
- Results publication: PubMed 15704090Kochunov 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.
- Results publication: PubMed 15671099Schaub 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.
- Results publication: PubMed 15540176Cody 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.
- Results publication: PubMed 12794705Gunn 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.
- Results publication: PubMed 11839953Schaub 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.
- Results publicationSchaub RL, Cody JD, Hale DE. Growth disorders in the chromosome 18 syndromes. Highlights 9:3-5, 2001
- Results publication: PubMed 11203878Hermesch 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.
- Results publication: PubMed 11134092Hale 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.
- Results publication: PubMed 10598807Cody 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.
- Results publication: PubMed 10453734Wang 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.
- Click here for more information about this study: The Chromosome 18 Clinical Research CenterLink provided by the sponsor.
- 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.Link provided by the sponsor.
Related trials for Chromosome Aberrations
RecruitingObservational study
Pilot Study of Discarded Blastocysts
Infertility (IVF Patients)
Not yet recruitingPhase 3
A Randomized Study of ELVN-001 Versus Investigator-Selected TKI, in CP-CML Previously Treated With One or More TKIs
Chronic Myeloid Leukemia (CML), Chronic Myeloid Leukemia (CML) Philadelphia Chromosome Positive
RecruitingPhase 1/2
CD19/CD22 Bicistronic Chimeric Antigen Receptor (CAR) T Cells in Children and Young Adults With Recurrent or Refractory B Cell Malignancies
B-NHL, B-Non Hodgkin Lymphoma
RecruitingObservational study
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
Pregnant Individuals, Aneuploidy
RecruitingPhase 1
A Study of Sovilnesib in Subjects With Ovarian Cancer
High Grade Serous Adenocarcinoma of Ovary, Fallopian Tube Cancer
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jannine D. Cody, Ph.D. principal investigator
The University of Texas Health Science Center at San Antonio
Jonathan Gelfond, M.D., Ph.D. principal investigator
The University of Texas Health Science Center at San Antonio
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Chromosome Aberrations and Growth Hormone Deficiency, run by The University of Texas Health Science Center at San Antonio at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jannine D. Cody, Ph.D. (210-567-9220, cody@uthscsa.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Primary (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00227253, which also lists 25 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Jan 2026.