On going medical Studies that need your input

1ST

Study. Columbia University Medical Center (CUMC)

Please Note, this study is open to all, Surgeon’s, Doctors, and Parents, and Adults with Condition, we need your help to make this work. Columbia University Medical Center (CUMC) is currently conducting phase one of the Congenital Anomalies Research Exploration (CARE) Study. This study is using genetic testing to investigate the underlying causes of gastrointestinal (GI) defects.

2 nd

Nationwide Children’s Hospital, in collaboration with the American Academy of Pediatrics Section on Surgery, is conducting research related to the care of children with esophageal atresia and tracheo-esophageal fistula. The study examines issues related to the transition of care (from pediatric to adult health care providers) and consists of a single, web-based survey for parents (and even older adolescent / young adult patients). The survey length varies depending on clinical history, but time to complete all questions should be less than 15 minutes.

 

Columbia University Medical Center (CUMC)

What is the CARE Study?

Overall, the CARE Study has two goals.

1. Identify genetic causes of EA/TEF.

It is suspected that there is an underlying genetic contribution to these types of congenital anomalies, but the specific genes and their effects are unknown. Through having a better understanding of the underlying genetic causes, we may be able to study the relationship between the genetic changes in patients with EA/TEF and the effectiveness of different treatment/management modalities. We will also be able to better understand the hereditary nature of the defect and risk of recurrence in a family.

2. Collect long-term developmental data on individuals born with EA/TEF.

This type of data will help us study what effects the gene changes causing EA/TEF will have on long-term development and will be useful for families in the future to help understand what to expect when their child is diagnosed with EA/TEF.

Who are we?

The CARE team is a multidisciplinary team based at Columbia University Medical Center. The principal investigator is Dr. Wendy Chung, a clinical geneticist who has extensive experience in studying the genetic causes of various birth defects. The co-investigators are the director of pediatric surgery, Dr. William Middlesworth and pediatric gastroenterologists, Dr. Julie Khlevner and Dr. Joseph Picoraro. The study coordinator and main contact person are Priyanka Ahimaz, a board-certified genetic counselor. The study also has rotating research assistants, currently Sarah Stewart, a genetic counseling student from Sarah Lawrence College.

To learn more about the study team members, click the link below:

The CARE study is an optional, free study, which accepts participants born with EA/TEF from all over the world. At this time, we are enrolling individuals who have esophageal atresia and tracheoesophageal fistula (EA/TEF). If you/ your child is affected with EA/TEF and are interested in participating in the study, we will arrange an appointment over the phone to discuss the study. We are able to enroll participants of all ages. As a part of the study, we will ask some general medical history questions to learn more about the affected individual and their family

history. A blood (ideal sample) or saliva sample will need to be collected from the affected individual and both biological parents- the collection kits can be shipped to your home at no cost and we will provide pre-paid packages for you to have them sent back to us, also at no cost. Having both the medical history and parent’s samples will allow us to create a more complete picture when analyzing genetic test results. We can observe if there are any changes in the genetic sequence of the affected individual compared to their parents that may be responsible for the birth defect.

The genetic test we will conduct is called Whole Exome Sequencing (WES). Basically, WES is a genetic test that looks at the DNA in your blood or saliva to analyze the sequence or code of your DNA. By doing this, we can see if there are any changes that could have contributed to the EA/TEF. In the CARE study, we will only be looking at the areas in your DNA that are known to be related to EA/TEF. This means that analysis and results will only be focused on these specific areas, so you will not get any secondary results that could potentially suggest you are at an increased risk for a different medical condition.

This study does not necessarily directly impact its participants. However, if any genetic changes are identified in the genes being examined, the family can be notified of the result if desired. Furthermore, this study will help future families with children born with a GI defect, in order to provide them with better information and management upon diagnosis.

Contact us.

For more information on the CARE study and our team, please visit our website at 

https://columbiacarestudy.wordpress.com/

or Facebook page at 

https://www.facebook.com/CAREstudycolumbia/

We can be contacted through either page if you have any questions or if you are interested in participating would like to set up an appointment via phone. Click the image below to see the study:

Ea-Tef Survey 2018

Nationwide Children’s Hospital Ea-Tef Survey 2018

Please tick the box next to this website address so the team running this survey know how you found it.

Mr. Wyles

We would greatly appreciate your help in promoting this survey. I have included below some model language for an announcement that you can use or modify in order to meet the needs of your online community. We have encountered a substantial response, but more responses can only improve the quality of the research we are conducting.

Thank You.

Pediatric Minimally Invasive Surgery Dept

Nationwide Children’s Hospital

The survey is available online click on this link,

https://redcap.nchri.org/surveys/?s=X4K94DWDLK

Nationwide Children’s Hospital, in collaboration with the American Academy of Pediatrics Section on Surgery, is conducting research related to the care of children with esophageal atresia and tracheo-esophageal fistula. The study examines issues related to the transition of care (from pediatric to adult health care providers) and consists of a single, web-based survey for parents (and even older adolescent / young adult patients). The survey length varies depending on clinical history, but time to complete all questions should be less than 15 minutes. No identifying information is required, although email addresses can be provided (optionally) if you wish to participate in a future survey that examines the quality of life for children with esophageal atresia and tracheo-esophageal fistula.

More information is available at:

Esophageal Atresia / Tracheo-Esophageal Fistula Transition of Care Survey

Thank you for your interest in this study of children growing up after surgical repair of Esophageal Atresia (EA or OA) and Tracheo-Esophageal Fistula (TEF or TOF). This document provides information related to this research project as well as contact information, should additional questions arise.

Who we are

This survey is being conducted by the Department of Pediatric Surgery at Nationwide Children’s Hospital (Columbus, OH, USA) in collaboration with the American Academy of Pediatrics (AAP) Section on Surgery. This research has been reviewed and approved by the Institutional Review Board at the Nationwide Children’s Hospital and the Principal Investigator is Dr. Karen Diefenbach, one of our pediatric surgeons.

What is being studied?

We are trying to determine whether certain children with TEF / EA are more or less likely to continue to be cared for by pediatric physicians. Some children are ultimately cared for by physicians and specialists that mainly treat adults. The information we gather should help us determine which path a patient might follow and why. We also hope to learn more about the quality of life and types of symptoms that can be expected for children with EA / TEF as they get older.

What data will be collected?

We will collect the following categories of information

  • The type of problem that the esophagus originally had
  • The kinds of procedures and medicines that were used to treat the problem
  • Information about the affected child (age, gender, other health problems)
  • The child’s age at the time when the procedures were done.
  • The country in which the child now lives
  • The kinds of doctors that care for the child and how often the child is seen by those doctors.
  • The kinds of information and advice that were provided to the child and to his or her parents
  • Problems the child continues to have related to having EF / TEA or related to the procedures that were used to treat it.
  • Respondents who would like to volunteer to participate in a future study examining the quality of life for children with EA / TEF will be able to provide an email address to be notified when that survey becomes available. Sharing an email address is voluntary and collected addresses will not be used for any other purpose.

How will data collected be secured?

https://docs.google.com/document/d/1mwbMt17Uz8Rvi8TQEmeqATYuit1MvQqgGH_cj8yCAH0/edit

The research team will maintain the data collected on a secure web server maintained by the Research Institute at Nationwide Children’s Hospital until the window to collect responses has ended (approximately 3 months). The data will then be removed from the server for analysis. The data will then be stored on a secure server within the Nationwide Children’s Hospital network and protected with the same safeguards as those used for patient data. The information will be analyzed by the research team and the results of this analysis will be submitted for publication to scientific journals. The published data should help doctors who care for children with EA / TEF but will not contain information about particular people who responded to our survey.

How can I participate?

The survey is available online click on this linkhttp://j.mp/2y9OEyS

Please submit only one response for each child with EA / TEF or Tofs

I still have questions

Please direct inquiries to the Study Coordinator at MISProgram@nationwidechildrens.org

The Institutional Review Board of Nationwide Children’s Hospital can also be reached at +1 (614) 722-2708.