In order to be eligible for the series of clinical studies, participants must have completed all the steps in enrollment, including providing a blood sample amongst other steps in the evaluation process.
Unfortunately, even if a family has provided blood samples and all the other documentation we request at enrollment, we cannot guarantee them a visit to our research center. Eligibility depends on our current funding as well as project priorities. If your family is eligible to come to San Antonio, our patient coordinator will contact you.
Participants undergo numerous evaluations when they come to San Antonio. Even if the study participant has already been in a similar evaluation process in his or her hometown, we repeat the evaluation process in San Antonio. Possible evaluations include:
- Speech and Language
- GAIT Lab
Learn more purpose and procedures of the evaluations
Participants will receive copies of the reports from the visits with the specialists at the Chromosome 18 Clinical Research Center. These reports may be provided to the individual’s health care team to help in the management of medical and developmental concerns.
Not eligible for clinical studies?
We are frequently asked whether our team of collaborators will see patients who are not eligible for one of the clinical studies. Our investigators do see patients on a non-research basis and will be happy to see you in their individual clinics. As a service to families who have completed the primary enrollment for the Chromosome 18 Clinical Research Center, we will help schedule these appointments so that they can take place within a relatively compressed number of days. However, it is important to understand that the Chromosome 18 Clinical Research Center will not cover the cost of these visits. As with other specialists that your child might see, you will need to check that your insurance will cover the costs. This might require your child’s primary care provider to complete a referral to the provider in San Antonio. When setting up these appointments, you will need to tell both the provider and the insurer that this will be a CLINICAL VISIT and not a “research visit”. Your child’s physician in your hometown will receive a clinical summary from each appointment.
Please keep in mind that, if you seek an appointment with a provider in San Antonio, the results of the evaluation will not automatically be made available to the Research Center. If you would like the information of those visits to become part of the Research Center’s data base, then we will need your permission to obtain those records for every doctor seen. This can easily be done by filling out a medical record release form as you see each of these providers.
Although you will be responsible for all costs associated with a visit to San Antonio, the staff at the Research Center may be able to provide you with some assistance. If you are already enrolled in our Primary Research Study, we can:
- Review your child’s records and determine which specialists would be most appropriate
- Coordinate the visit so that multiple specialists can be seen in a timely fashion
- Make suggestions about hotels and tourist attractions
- Provide directions and other instructions to get to the appointments.
Collaborators who see private patients in their clinics
(Ear, Nose and Throat)
Includes an ENT examination and possible ABR/audiology testing, as ordered by Dr. Perry.
Includes an endocrinology examination and appropriate endocrinology blood work, which may include growth hormone stimulation testing and bone age X-rays.
Includes neuropsychology testing appropriate for child’s age and could also include interviews of parents or guardians.
Allergy and Immunology
Includes a thorough evaluation of the history of exposures and allergies.
These providers could become your child’s treating specialists, if you so wish. This differs from research-funded evaluations, in which our providers can only make treatment recommendations.
If you have any questions about this information, please call or email our Project Manager, Annice Hill, 210-567-5321, email@example.com.