Clinical Studies

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Please note: The Chromosome 18 Registry and the Chromosome 18 Clinical Research Center (this website) are separate entities and maintain separate lists of members and/or participants. The Registry does not share names with the Research Center and vise versa. Inclusion in one does not imply or obligate inclusion in the other. Therefore, if you want Registry membership information, you must contact the Registry. If you want research participation information, you must contact the Research Center.

Current Studies

Effects of growth hormone therapy on individuals with 18q deletions. This study involves young children with 18q- deletions and assesses them for growth failure and growth hormone deficiency. The assessment is comprehensive and involves a variety of evaluations over a 3-day period. The studies are performed in San Antonio during which time the children and their parents are in-patients at the General Clinical Research Center (GCRC) of the University of Texas Health Science Center. Travel expenses for the participants are covered by the study.

Planned Studies

Several grants are pending that will allow us to perform similar comprehensive assessments on individuals with the other chromosome 18 syndromes as those done with people who have 18q deletions. Families who have completed the Primary Enrollment will be notified when these studies are funded and can begin.

We are also planning studies that will be done by telephone, by mail or over the internet. While this is not the optimal was to perform a study, for many of the areas we have little or no information. The information gathered in this way can become the preliminary data for a grant proposal that would fund participants to come the Chromosome 18 Clinical research center for more in-depth evaluations.

These remote studies are:

Speech and language video taped assessments
Adaptive development survey by mail
Autism mail survey
Behavioral survey over the internet

Clinical study information

If your child is a candidate for the clinical study, the clinical coordinator will call you to invite you and your family to participate. If the family prefers to fly to San Antonio, airfare will be paid for and arranged by the study for the affected child and 2 adults. If you wish to bring other family members with you by plane, please contact the clinical coordinator well in advance of the trip. The study must use the travel agency under contract to the State of Texas and therefore we are unable to reimburse families for airfare purchased independently of the study. In other words, if you wish us to pay for the plane tickets, we must be the ones to arrange the flights.

If you decide to drive to San Antonio, we can reimburse you for personal car mileage at the rate of 35 cents per mile. We can also reimburse for taxi fare. The one item we are not able to reimburse families for is car rental.

The clinical coordinator will also need to collect some personal data from you for the hospital and the center. Social security number, place and date of birth are required from the affected child and both biological parents. An emergency contact including name, address, phone number and relationship of that person to you is also needed. You may provide your religion if you desire a visit from the hospital chaplain during your stay.

You will receive a packet from the clinical coordinator's office approximately 2 weeks prior to your arrival in San Antonio. It will contain your travel itineraries, a schedule of your child's activities, consent forms, and some information about the city. You should also receive a call from the GCRC staff the week before concerning your child's food preferencies/allergies and any special needs he or she might have.

Tests that are currently available include audiology, ENT exams, neuropsychology evaluations, speech pathology tests, dental exams, genetics exams, MRI scans and endocrinology evaluations for growth hormone deficiency, thyroid, ACTH, cortisol and sex hormone levels. Not all of these tests will be offered to you and your child at every visit nor are they appropriate for every chromosome 18 abnormality. As an example, once growth hormone deficiency has been diagnosed, these blood tests would not be repeated at subsequent visits. Other examples are the dental exam and speech pathology testing, which are specific for 18p- clinical evaluations.

You will receive reports from endocrinology, audiology, ENT (ear, nose, and throat), and neuropsychology. These are usually mailed with 6-8 weeks of the child's visit. Should a condition that requires prompt medical intervention be discovered during the course of the study, we will attempt to notify you as soon as possible and forward the relevant report to you. If your child is growth hormone deficient, we will write the first prescription and initiate the paperwork with the company that distributes growth hormone nationwide.

You will also receive a clinical report about the MRI by a radiologist that documents the structural and anatomical findings of your child's brain. However, this interpretation is not able to describe changes in white matter or myelin in response to growth hormone therapy. These changes are calculated and graphed from numerical values obtained during the MRI and is strictly a research activity. This is the same reason that we cannot accept films from local MRI facilities in lieu of performing this test here in San Antonio.

Similarly, the fine genetic mapping of your child's individual breakpoint is also a research activity. This is an entirely different process from the karyotype that originally diagnosed your child's chromosome 18 abnormality. Research laboratories are not certified to release clinical reports, and so we are unable to provide this information to you in a formal report. Upon enrollment in the study, each family is given a study number. Some families keep track of the publications produced by the center investigators and can use the study number to know if data about their child has been included in a particular manuscript.

We are also unable to release information about paternity/parentage of your child, although this will be determined during the course of the research study. If DNA analysis indicates that the blood sample submitted to the center could not possibly be that of the biological father, this information will not be released to any party under any circumstances.

Primary Enrollment Information & Forms

Click below to download documents (.pdf)