Opportunities for Families

The following announcements are being provided to you as a courtesy by the International 22q11.2 Foundation. Unless otherwise noted, the research is not being conducted by or funded by the Foundation. The announcements and the parties conducting and sponsoring the research meet basic guidelines established by the Foundation regarding relevancy and appropriateness to 22q11.2 deletion and/or duplication syndromes. The Foundation takes no position and makes no claims as to the potential benefits of the studies, including those studies involving medications, and cannot be responsible for any outcomes, lack of outcomes or unintended side effects. If interested in learning more about, or participating in, any research study, we urge you to use the contact information listed on the institution’s flyer or website. Please note that there will often be other research studies on 22q11.2 deletion syndrome that are available to you locally or regionally that may not be advertised here.
If you are a conducting pertinent research and you do not see it listed here, please email info@22q.org with the complete details, aim of the study and a copy of the IRB approval letter. We will have the study reviewed by our medical advisors and gladly post here if it meets appropriate criteria.study from the University of Newcastle, Australia.

Sleep study from the University of Newcastle, Australia

(posted October 22, 2017)

Do you have a child with a developmental disability of genetic origin? Is your child sleeping well or do you have any sleep related concerns? Over the years there have been many anecdotal stories about the relationship between developmental disabilities and sleep but very few studies! We are interested in hearing from you about your experiences. We are seeking parents of children with developmental disabilities who sleep well and also those who do not sleep well to participate in an online survey. If you want to find out more, please visit here.
This study is carried out by Dr Kathryn McCabe at UC Davis, USA, Mr Justyn Hyde and Dr Linda Campbell, University of Newcastle, Australia.


Albert Einstein College of Medicine is conducting a research study on the neurogenetics of 22q11.2 deletion syndrome.

(posted January 16, 2017)

Albert Einstein College of Medicine is conducting a study using genetic information, cognitive neuropsychological testing and electroencephalography (EEG) to characterize 22q11.2 deletion syndrome. The purpose of the study is to help uncover ties between genetics, symptoms or findings and disease, providing the potential to better understand the neural and mechanistic basis of the syndrome.

For children between the ages of 6 and 18 years old  Learn more

For individuals between the ages of 18 and 30 years old  Learn more


Transition Readiness and Quality of Life in Adolescents and Young Adults with 22q11.2 Deletion Syndrome
(Updated post November 15, 2016)

Transition Readiness and Quality of Life in Adolescents and Young Adults with 22q11.2DS. Northwestern University is conducting parent and young adult surveys designed to investigate quality of life and readiness to transition into adult healthcare programs. The study also aims to explore the impact of a 22q diagnosis on specific aspects of young adult life such as education, career choice, relationships, and family planning. Study survey open until December 3rd, 2016.

A note from the investigators:

Do you have 22q or DiGeorge syndrome or VCFS? Are you between the ages of 18-30? Please consider participating in our research study. All participants will have the opportunity to be entered into a lottery to win one of ten $30 Visa gift cards! For more information and to be directed to the online survey, please click on the link below.

Thank you for your time!”

 

Survey Link for Affected Individuals 

Survey Link for Parents 


Clinical Trial for Adolescents with 22q11.2DS and Attention Deficit Hyperactivity Disorder, Anxiety Disorder, and/or Autism Spectrum Disorder

(Updated post November 15, 2016)

The Children’s Hospital of Philadelphia is testing an investigational study medication for adolescents with 22q11.2DS and the commonly associated conditions of Attention Deficit Hyperactivity Disorder, Anxiety Disorder, and/or Autism Spectrum Disorder. The study drug being tested is called Fasoracetam or NFC-1 and is not currently approved in the US. This study is sponsored by Medgenics, Inc.

Patients aged 12 to 17 years old with 22q11.2DS and Attention Deficit Hyperactivity Disorder and/or Anxiety Disorder and/or Autism Spectrum Disorder may be eligible to participate in this study. Study participation lasts up to 17 weeks and includes up to 14 in-person visits at the Children’s Hospital of Philadelphia.  Study medication, study-related medical care, and compensation for time and travel may also be provided.  Participants will receive summary results of their academic strengths and weakness as well as any psychiatric findings.

For more information, please contact the 22q and You Center by phone at 215-590-2920 or by email at genetics@email.chop.ed

Learn more


Mental Health in 22q

University of British Columbia

(posted October 12, 2016)

Individuals with 22q11 Deletion syndrome are at increased risk to develop a psychiatric disorder. Psychiatric genetic counseling (PGC) provides people with individualized information and support related to causes of psychiatric disorders, the chances for children to develop these conditions, and about strategies that people can use to promote mental health.

Mental health problems are common among children with 22qDS, and are inadequately treated. We will explore whether psychiatric genetic counseling can help reduce the impact of mental health issues in these children, and help families to identify and manage symptoms of mental illness that could emerge.

We invite parents of a child (<18 years) with 22qDS to take part in this study. If you agree to participate, it will involve completing an initial telephone interview, one genetic counseling appointment via telephone or Skype, and a follow up telephone interview.

If you want to know more about the study or would like to participate, please email the study coordinator, Rolan Batallones at rolan.batallones@ubc.ca and to learn more click here.


Clinical Trial for Adolescents with 22q11.2DS and Attention Deficit Hyperactivity Disorder, Anxiety Disorder, and/or Autism Spectrum Disorder

(posted October 4, 2016)

The Children’s Hospital of Philadelphia is testing an investigational study medication for adolescents with 22q11.2DS and the commonly associated conditions of Attention Deficit Hyperactivity Disorder, Anxiety Disorder, and/or Autism Spectrum Disorder. The study drug being tested is called Fasoracetam or NFC-1 and is not currently approved in the US. This study is sponsored by Medgenics, Inc.

 Patients aged 12 to 17 years old with 22q11.2DS and Attention Deficit Hyperactivity Disorder and/or Anxiety Disorder and/or Autism Spectrum Disorder may be eligible to participate in this study. Study participation lasts up to 17 weeks and includes up to 14 in-person visits at the Children’s Hospital of Philadelphia.  Study medication, study-related medical care, and compensation for time and travel may also be provided.  Participants will receive summary results of their academic strengths and weakness as well as any psychiatric findings.

For more information, please contact the 22q and You Center by phone at 215-590-2920 or by email at genetics@email.chop.edu.


Transition Readiness and Quality of Life in Adolescents and Young Adults with 22q11.2 Deletion Syndrome

(posted September 12, 2016)

“Do you have 22q or DiGeorge syndrome or VCFS? Are you between the ages of 18-30? Please consider participating in the following research study (STU00203635)! All participants will have the opportunity to be entered into a lottery to win one of ten $30 Visa gift cards! For more information and to be directed to the online survey, please click on the link below.
Thank you for your time!” *

Link to Survey 


Sleep issues in Children with 22q

Children’s Mercy Hospital

(posted May 31, 2016)

Children with 22q11.2 deletion syndrome may have associated medical and behavioral problems. Previous research has shown that children with 22q11.2 deletion syndrome are at risk for obstructive sleep apnea. Despite this, there is relatively little information regarding other specific sleep concerns and habits in these children. To this end, we are conducting research out of Children’s Mercy Hospital to focus on gathering information about sleep habits in children with 22q11.2 deletion syndrome who are 1 to 18 years old.

We invite you, if you are a parent of a child with 22q11.2 deletion syndrome, to participate in an anonymous online survey. Please only complete one survey per child (only have one parent fill out the survey). Below is a link to a short survey which will take approximately 10-20 minutes to complete online.

Link to survey

Learn more here


Cognitive and Affective Risk and Protection in Psychosis (CARPP) in 22q11.2 Deletion (VCFS/DiGeorge) Syndrome

UC Davis Mind Institute 

(posted April 7, 2016)

Why do we call this the CARPP study? (PDF) »

We are carrying out a new study that focuses on how thinking, feeling and the biology of stress interact to affect the risk of young people with chromosome 22q11.2 deletion syndrome (22q11.2DS) to develop symptoms of psychotic thinking.   The study is funded by the National Institutes of Mental Health, which is one unit of the main organization that gives money for research in the USA. Dr. Tony J. Simon would like to invite your 12- to 18-year-old child with chromosome 22q11.2 deletion (VCFS/DiGeorge) syndrome or typically developing child to be part of the study.

Adolescents and young adults with chromosome 22q11.2DS are vulnerable to psychiatric illness ranging from mild anxiety to, in a small minority, schizophrenia. However, very little is known about what factors contribute to such symptoms.  This study will look at biological reactions to stress, anxiety levels, and how the mind and brain works to see if some of these factors influence the risk for or protection against signs of psychosis.

Young people who take part in the study will complete several tasks on a computer. During some of them, their brain activity will be painlessly recorded in our Electrophysiology Lab. We will also ask them to provide some saliva by chewing on a small swab like Q-tip at specific time points in the morning. They will also be asked to complete a clinical interview about how they have been feeling, thinking, and acting over the last couple of weeks.  This will enable skilled clinicians to measure any changes in thinking that indicate alterations in their understanding of reality. In addition, they will have pictures taken of their brain using an MRI machine and families will be provided a copy of this. MRI scans do not involve any radiation. All of the activities are safe, interesting, and painless. The young person’s parent(s) or guardian(s) will also be asked to answer questions about how the child has been thinking, feeling, and acting. All testing is for research purposes only, it is at no cost to families, and includes gift certificates for your child as a thank you for participating. If needed, we have some funds to help you with travel and lodging for your trip to Sacramento. All personal and medical information is kept private and safe. If you and your child would like to take part we will answer all of your questions and give you more information. The actual study will be carried out over one to two days and will include breaks for meals, snacks and resting when needed.

If you would like to find out more about taking part in the study and help us learn about mind and brain development in young adults like your own, please contact our study coordinator at 916-703-0409 or email us at hs-22q@ucdavis.edu.

 Complete the screening forms to be considered for participation in the study »

Learn more here


Adaptive skills in young children chromosome 22q11.2 Deletion (VCFS/DiGeorge) syndrome and the role of parenting

UC Davis Mind Institute 

(posted April 7, 2016)

We are carrying out a study on the relationship between parental behavior and emotional and independent living skill development in children with and without chromosome 22q11.2 deletion (VCFS/DiGeorge) syndrome (22q). Dr. Kathy Angkustsiri and Dr. Tony J. Simon would like to invite your 4 to 11-year-old child with 22q or typically developing child to be part of the study. We are interested in studying how children ages 4-11 years of age with 22q11.2DS solve problems, manage challenging tasks, and how parents are involved in that process. Another component of this study is looking at parent and child physiology during these tasks. This research will help to identify parent and child factors that may promote positive behaviors and optimal functioning in children with 22q11.2DS.

Children who take part in the study will undergo developmental testing, a history and physical examination, and complete interviews or questionnaires. Parents will complete questionnaires about parenting and their child’s behavior. Parents and children will work on activities such as puzzles and folding origami. All of the activities are safe, fun and painless. All testing is for research purposes only, is at no cost to families, and includes monetary compensation as well as a thank-you gift certificate for your child. An optional consultation with a pediatrician specializing in neurodevelopmental disorders will be available.

If needed, we have some funds to help you with travel and lodging for your trip to Sacramento. All personal and medical information is kept private and safe. If you and your child would like to take part we will answer all of your questions and give you more information over the phone first. The actual study takes about 4 hours over 1 day, with breaks for lunch/snacks.

If you would like to find out more about taking part in the study and help us learn about mind and brain development in young adults like your own, please contact our study coordinator at 916-703-0409 or email us at hs-22q@ucdavis.edu

Learn more here


Attention Tooth Fairies

(posted April 5, 2016)

New research at the University of Tennessee shows that nerve cells can be grown from the dental pulp of teeth after they fall out. Nerve cells are the key cells that function in the brain. In some children, these cells are affected by a missing section of chromo- some 22. This missing section called the 22q11.2 deletion can lead to many serious health problems.

Your child’s lost teeth may be the key to understanding how the deletion affects these important cells.

Learn more here


Children Needed for MRI-Speech Study

(Re-posted March 2016)

Who are we looking for? – Children ages 4-12 years old with 22q11.2 deletion syndrome (also known as velocardiofacial/DiGeorge syndrome). Children who have a pharyngeal flap or sphincter pharyngoplasty are not eligible. Children who previously had a palate repair surgery (e.g., Furlow) are also not eligible to participate.

What is involved?
• 15-minute speech video recording (repeating words and sentences)
• Oral exam
• Medical history review
• 15-minute magnetic resonance imaging (MRI) scan of the head while the child is quiet and while the child is saying sounds

All tests will be done at Nationwide Children’s Hospital in Columbus, Ohio. All study procedures (including paperwork and medical history review) will take up to two hours total and can be completed in one or two visits.

Learn more here


Parenting and Adaptive Functioning in Children with 22q11.2DS 

(First posted January 2016)

Researchers at the UC Davis MIND Institute in Sacramento, California are carrying out a new study on the relationship between emotional and independent living skill development in children, ages 4-11, with and without chromosome 22q11.2 deletion (VCFS/DiGeorge) syndrome and how parenting can influence their child.

IRB approval # 628271. Study ends 01/01/2017.

Learn more here


Facilitating discussions about the psychiatric phenotypes of 22q11.2 deletion syndrome

(First posted January 2016)

A Virginia Commonwealth University research team wants to know what conversations about a diagnosis of 22q11.2 deletion syndrome look like from the point of view of people with 22q and/or the parents or legal guardians of someone with 22q. We want to know what information was or was not given about the mental health problems associated with 22q: What information was helpful? What information was not helpful? What information did they want to know? What information did they not want to know? When is the best time to talk about the chance to have mental health problems as a part of 22q?

We want to use what we learn to create a pamphlet about the mental health problems that are part of 22q11.2 deletion syndrome, but we need help from study participants. If you 1) have 22q11.2 deletion syndrome AND/OR 2) are the parent or legal guardian of someone with 22q, we want to hear what this was like for you. We hope a pamphlet about the mental health problems of 22q will be helpful for people, their family and friends, and the doctors and other healthcare providers who care for people with 22q11.2 deletion syndrome.

Learn more here


Brain Structure and Function in Genetic Disorders

(Survey for those in the U.S. and Canada. First posted November 2015.)

The purpose of the research is to create human induced pluripotent stem cells (iPSC) from a small skin sample in order to model 22q11DS in a laboratory and better understand the structure and growth of nerve cells and their connections. In this research, your skin will be sent to Stanford University and induced to become iPSC. The iPSC will then be induced to become nerve cells in order to model 22q11DS and possibly identify future therapies.

This is a University of California – Los Angeles (UCLA) research project for individuals over 18 years old.

Learn more here


A Survey for Caregivers

(International survey. First posted November 2015)

Hello, my name is Tiffany Vickers. Among many things I am a wife, mother, and student. On March 1, 2003 I gave birth to my youngest daughter Grace… When I went into labor I was so excited to meet Grace… I found out several days after her birth that she has 22q11.2 Deletion Syndrome… The day I left the genetics office began the amazing journey of the last 12 years.

Learn more here

I am asking parents and caregivers of children with 22q to assist me in my graduate studies by participating in a survey. The goal of the survey will be to further the research that suggests that social supports can have a positive impact on caregivers of children who have been diagnosed with 22q11.2 Deletion Syndrome.

Read more here


A study of movement disorders in adults with 22q11 deletion (DiGeorge syndrome)

(United Kingdom Families Only. First posted November 2015)

We would like to invite you to take part in our research study.  Before you decide we would like you to understand why the research is being done and what it would involve for you…

Recently a research study has shown that people with 22q11 deletion (DiGeorge syndrome) may have an increased chance of developing a movement disorder…

Read more here 

Researchers at Children’s NHS Foundation Trust are organising this study.  They will not get any extra money for doing this research.  The Royal College of Physicians of Edinburgh has provided a research grant, awarded in a competition, to the research team, to fund the project.  This study has been reviewed and given a favourable opinion by a Research Ethics Committee.

Learn more here


Children Needed for MRI-Speech Study

Who are we looking for? – Children ages 4-12 years old with 22q11.2 deletion syndrome (also known as velocardiofacial/DiGeorge syndrome). Children who have a pharyngeal flap or sphincter pharyngoplasty are not eligible. Children who previously had a palate repair surgery (e.g., Furlow) are also not eligible to participate.

What is involved?
• 15-minute speech video recording (repeating words and sentences)
• Oral exam
• Medical history review
• 15-minute magnetic resonance imaging (MRI) scan of the head while the child is quiet and while the child is saying sounds

All tests will be done at Nationwide Children’s Hospital in Columbus, Ohio. All study procedures (including paperwork and medical history review) will take up to two hours total and can be completed in one or two visits.

Learn more here.


Cognitive and Affective Risk and Protection in Psychosis (CARPP) in 22q11.2 Deletion (VCFS/DiGeorge) Syndrome

We are carrying out a new study that focuses on how thinking, feeling and the biology of stress interact to affect the risk of young people with chromosome 22q11.2 deletion syndrome (22q11.2DS) to develop symptoms of psychotic thinking. The study is funded by the National Institutes of Mental Health, which is one unit of the main organization that gives money for research in the USA. Dr. Tony J. Simon at the UC Davis MIND Institute would like to invite your 12- to 18-year-old child with chromosome 22q11.2 deletion (VCFS/DiGeorge) syndrome or typically developing child to be part of the study. Read more here.


Family Experiences with Genetic Testing and Return of Results

Dr. Holly Tabor and colleagues at the Seattle Children’s Research Institute are conducting a research study called “Family Experiences with Genetic Testing and Return of Results.” The goal of this study is to improve the way that health care providers, hospitals and genetic testing laboratories communicate with patients and families about genetic results in the future. As a part of this study, they are recruiting parents whose children underwent genetic testing before the age of 18 for a range of conditions and symptoms. If you qualify and would like to participate, you will be asked to participate in an interview about your experiences for up to one hour, by phone or in person. The interview will be audio recorded and transcribed and identifying information about you and your family will be removed from the transcript. You will not receive any payment for participation in the study. If you are interested, please contact Dr. Tabor in the Division of Bioethics in the Department of Pediatrics at holly.tabor@seattlechildrens.org or (206) 884-5929. This study is approved by the Seattle Children’s Research Institute Institutional Review Board. Learn more here.


Let’s talk about your OTHER chromosomes!

When you have a 22q11.2 deletion or duplication, you hear a lot about that one chromosome. By studying the impact of family background, we hope to better understand and personalize interventions for people with 22q11.2 deletions and duplications. To learn more and how you can participate from your home computer, visit http://www.geisingeradmi.org/care-innovation/studies/22q/


ATTENTION FATHERS!!!! WE NEED YOU

Are you a father of a child with 22q11.2 deletion syndrome? The University of Newcastle is interested in your experiences of well-being, coping styles, and access to support, as well as your level of growth since your child’s diagnosis. If you want more information, or would like to complete the questionnaire, please click here.


Identifying the Musical Interests and Behaviors of Children with 22q11.2 Deletion Syndrome

You are being asked to participate in a research study that investigates the musical behaviors and reactions of individuals with 22q11.2 deletion syndrome (also called DiGeorge syndrome or VCFS).  This study will be the first of its kind to research the musical interests of children with 22q11.2DS. In this study we are asking parents or guardians of children with 22q11.2DS to complete an online questionnaire about the musical interests and behaviors of their children. The entire questionnaire takes approximately 30 minutes or less to complete. You are eligible to participate in this study if you have a child between the ages of birth-18 who has been diagnosed with 22q11.2DS (also called DiGeorge syndrome or VCFS) by genetic testing.

To learn more and/or to participate, please visit: https://www.surveymonkey.com/s/HD69QRY

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