Note from Mary Fete, NFED Executive Director:
We are extremely pleased to report that Dr. Kenneth Olivier and Dr. Alexandra Freeman, NIH experts in pediatric pulmonology (lung disorders) and infectious diseases and immunology, will be performing respiratory function testing and immune function testing for patients enrolled in the special NIH studies this summer.
Families have consistently reported increased levels of concerns for respiratory infections, asthma and allergic rhinitis in individual affected by various of the ectodermal dysplasias. Previous survey studies of our NFED families have confirmed a significant increase in allergic disorders, asthma, eczema, ear infections and sinusitis in affected individuals compared to the general population.
The studies at the NIH this summer will include questionnaires, physical examination, lung function studies, x-rays and lab tests. Depending on the results of initial testing, some individuals may be invited back to the NIH for more advanced studies.
Research Study Details
Doctors at the National Institutes of Health (NIH) are conducting a study that will identify the conditions of craniofacial abnormalities, including ectodermal dysplasias, in an effort to develop treatments specific to the type of the condition.
From each family, the research team invites one person affected by ectodermal dysplasia and one person who is not affected or a person who is known to be a carrier.
The NIH will schedule appointments for individuals and families affected by ectodermal dysplasias for Tuesday, July 18; Wednesday, July 19 and the morning of Thursday, July 20. Appointments will take approximately four hours.
- All study-related tests and procedures are provided at no cost.
- All participants will receive a medical, and dental exam.
- DNA sample (blood or buccal swab) and/or Cone Beam CT scan of the face, head and neck.
You may be eligible to participate in this study if you:
- Are 2 years or older
- Have an abnormal condition to your face, head, and neck that was present at birth, hemifacial microsomia, or may have developed after birth such as underbite, or any other facial defect
- Are being considered for jaw surgery for bite abnormalities
- Are a parent, sibling, or extended family member of the volunteer
You may NOT be eligible to participate in this study if you:
- Are unable or unwilling to have a CT scan of the face, head and neck,
- Unwilling to provide a DNA sample for this study
- Are pregnant or breastfeeding if you are a healthy volunteer
- Have had extensive facial trauma and reconstruction
Location: The NIH Clinical Center
Participating in a research study is a personal decision and families should consider many questions before deciding. If you have questions or are interested in participating, call 1-800-411-1222/(TTY: 1-866-411-1010) or email Esther Akpa at the NIH. Refer to study # 16-D-0040.