The Chromosome 18 Clinical Research Center is conducting a life-time longitudinal study of individuals with any chromosome 18 abnormality with the goal of improving their health and life.
Any individual of any age with a previously diagnosed chromosome 18 abnormality. This includes a diagnosis of 18p-, 18q-, Ring 18, Tetrasomy 18p, Trisomy 18, a chromosome 18 inversion or translocation. These genetic changes can be as small as involving a single gene on chromosome 18.
This is a life-time longitudinal study. Individuals who have completed the Primary Enrollment are then offered the opportunity to participate in other research activities.
The Primary Enrollment involves first providing the diagnostic laboratory report that detected the chromosome 18 abnormality. Then discussing the program with the Program Manager, reading and then signing the informed consent documents. Sending other relevant medical records. Then we will send you a kit for getting blood drawn on the person with a chromosome 18 abnormality and both of their biological parents (when available).
A participant must have completed the Primary Enrollment in order to be eligible to participate in any of these or future studies. These studies could include:
- Periodic surveys and questionnaires to learn about developmental progress and behavior
- Requests for specific medial record if available
- A request for a skin sample
- An invitation to participate in a comprehensive clinical research evaluation at our center
Benefits of Enrollment
- Availability of study investigators to answer questions from participants and their health care providers
- Assistance in coordinating appointments with study investigators at our center at the participants expense
- New studies will be developed over time as new methods for evaluation are developed or as new questions arise
- In the future if clinical trials of novel treatments are undertaken all participants will be offered the opportunity to participate in such studies. There have been many active participants in the previous and ongoing studies