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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register.

Register:	ClinicalTrials.gov
Last refreshed on:	20 November 2023
Main ID:	NCT00227253
Date of registration:	14/09/2005
Prospective Registration:	No
Primary sponsor:	The University of Texas Health Science Center at San Antonio
Public title:	Chromosome 18 Clinical Research Center Chromosome18
Scientific title:	The Chromosome 18 Clinical Research Center
Date of first enrolment:	September 1993
Target sample size:	4000
Recruitment status:	Recruiting
URL:	https://clinicaltrials.gov/ct2/show/NCT00227253
Study type:	Observational
Study design:
Phase:

Countries of recruitment
United States

Contacts

Name:	Daniel E. Hale, M.D.
Address:
Telephone:
Email:
Affiliation:	The University of Texas Health Science Center at San Antonio

Name:	Jannine D. Cody, Ph.D.
Address:
Telephone:	210-567-9220
Email:	cody@uthscsa.edu
Affiliation:

Name:	Jannine D. Cody, Ph.D.
Address:
Telephone:
Email:
Affiliation:	The University of Texas Health Science Center at San Antonio

Key inclusion & exclusion criteria

Inclusion Criteria:

- 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

Exclusion Criteria:

- Pregnant women

- Dead fetuses

- Prisoners

- Non-viable neonates or neonates of uncertain viability

Age minimum: N/A
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Growth Hormone Deficiency

Chromosome Aberrations

Hypomyelination

Intervention(s)

Procedure: Speech pathology evaluation

Procedure: Neurology examination

Procedure: Determination of growth hormone status

Procedure: Psychiatric evaluation

Procedure: Audiological and ear, nose and throat examination

Procedure: Orthopedic evaluation

Procedure: Dental evaluation

Procedure: Dysmorphology evaluation

Procedure: Behavior and neuropsychometric evaluations

Procedure: Gastrointestinal evaluation

Procedure: Magnetic resonance imaging of the brain

Procedure: Ophthalmologic evaluation

Procedure: Measurement of growth, thyroid and sex hormone levels

Primary Outcome(s)

Primary [Time Frame: Ongoing]

Secondary Outcome(s)

Secondary ID(s)

Chromosome 18

5M01RR001346

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

National Center for Research Resources (NCRR)

Ethics review

Results

Results available:
Date Posted:
Date Completed:
URL:

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