About The Study
What is the aim of the study?
The objective of the study is to discover novel and effective treatments for VCFS-related psychosis.
The researchers hope to learn four things as a result of the study:
How psychosis develops
How better treatments might be identified for VCFS-related psychosis
Why people with VCFS develop mental illness at such a high rate
Ultimately, the intent is to develop effective treatments for people at high genetic risk for developing psychiatric illness
Who are the collaborating parties in the study?
The Virtual Center for Velo-Cardio-Facial Syndrome (The Virtual Center) and The Center for Precision Neuropsychiatry, based in the Department of Psychiatry at Columbia University Vagelos College of Physicians and Surgeons, are collaborating in this study.
What is needed from participants for the study?
Qualified study participants will need to provide only one thing:
A small blood sample. It could not be simpler.
What are the requirements to join the study?
A participant who wants to join this study must meet the following requirements:
Each participant must have VCFS (a.k.a. DiGeorge, 22q11.2 deletion syndrome), must be genetically confirmed as having a 22q11.2 deletion, and be diagnosed by a recognized professional as having had a diagnosis of some form of psychosis at one time in their life.
Each participant must have an unaffected first-degree family member (either a same-sex sibling or same-sex parent) who does not have VCFS. They will also provide a blood sample, which will be used for control purposes. In some cases, an opposite sex first degree relative might be accepted.
Participants must be located in the contiguous 48 states of the United States of America.
Does the VCFS psychosis-diagnosed participant have to be psychotic when their blood sample is taken?
No, they do not need to be psychotic at the time the blood is drawn. As long as they have been diagnosed by a recognized professional as having had a diagnosis of some form of psychosis at one time in their life they may join the study.
Must the VCFS psychosis-diagnosed participant stop taking their psychosis-related medication to provide a blood sample?
No, study participants are not required to stop any of the medication they have been prescribed. They are free to join the study if they are receiving treatment with medications and undergoing other forms of therapy when they provide their blood sample for the study.
How will the blood sample be obtained?
Once a participant registers on this site, a coordinator will be in contact to discuss the logistics of the blood draw.
A phlebotomist or nurse will visit participants to draw the blood in the comfort of their homes or location of their choice.
Is there a cost associated with the study for participants?
There is no expense for participants for any component of the study, including the blood draw.
Will participants be paid to take part in the study?
Yes, a small stipend will be paid to those who participate.
Do participants need to be registered with Columbia University Irving Medical Center or the Virtual Center for Velo-Cardio-Facial Syndrome to participate in the study?
No, participants do not need to be registered with Columbia University Irving Medical Center or the Virtual Center for Velo-Cardio-Facial Syndrome to participate in the study. As long as they meet the study requirements they may join the study.
How will the study be carried out and what is the science behind it?
The study will use induced pluripotent stem cells (iPSCs) obtained from donor blood. White blood cells are reprogrammed to become stem cells, and those stem cells are grown into cerebral organoids that will be exposed to drug libraries to determine how the brain tissue responds. The organoid response to the drugs can then be assessed and characterized. This type of research, called translational research, yields results that can be translated to ultimately benefit patient treatment.
The blood draw from the subject and relative (control subject) will be used to develop iPSCs and organoids to better understand VCFS biology and responses to medications. The specific form of mental illness will be determined in each case and considered in relation to the responses to the drug library. Individuals living with VCFS can exhibit many different forms of psychiatric illness, a strong indication that treating symptoms is likely to be less effective than treating the genetic cause of the disorder. Following this initial study, the team plans to run clinical trials of medications that show promise in the organoid response.
How many stages are there in the study?
There are three stages in the study:
Stage 1: Identifying a number of individuals with VCFS with psychiatric conditions from whom blood can be drawn to develop iPSCs and organoids and assessing their responses to medications.
Stage 2: Relating the specific forms of mental illness in the subjects to the response of the iPSCs and organoids in Stage 1.
Stage 3: Determination of how organoids respond to exposure to thousands of known drugs and using that information to find the most effective treatments as determined by the observations. Eventually, it is hoped these outcomes will allow us to conduct future clinical trials using this technology as guidance for choosing treatments.
If I have any questions who do I speak to?
For study questions please click here:
For blood draw questions please click here: