Participate in Research

Supporting research is an important part of CFC International’s mission. Often, the success of research studies of a rare disorder like Cardio-Facio-Cutaneous syndrome (CFC) depends on getting enough people to participate in the study so the results are meaningful.

The following Studies are currently enrolling participants.
See the contact person for each study for detailed information about who is eligible to participate and other study information.

 

Growth Delay and Short Stature in Children with Cardiofaciocutaneous Syndrome (CFC)

The focus of this study is the short stature, growth delay and/or deficiency of growth hormone that is a consistent feature of CFC syndrome. This may include but not be limited to the etiology, mechanisms for appropriate growth assessment in children with CFC syndrome, and potential interventional treatment.

We are conducting a research study on growth in children with CFC syndrome. We will be creating growth charts for children with CFC, but we need your help!

STUDY GOALS:

  1. Create growth curves for height, weight, and head circumference for males and females with CFC syndrome.
  2. Determine how many individuals with CFC have growth hormone (GH) deficiency.
  3. Determine how many individuals with CFC have used GH medication. If you decide to participate, you will be asked to:
    1. Sign a consent form which will allow us to request and review your child’s medical records (related to growth)
    2. Complete a short medical history questionnaire. From this information, we will create growth curves for all children with CFC that your children will be able to use!

Please contact Pilar Magoulas, MS, CGC, primary investigator, certified genetic counselor, and CFC Board member, for more information about participating in this research study. CONTACT INFORMATION: Pilar can be reached at: 832-822-4288 or magoulas@bcm.edu.