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Enrolling outside Boston Childrens Hospital | Overview

Information for research participation outside Boston Children's Hospital

Your participation in the study will require reading and completing some forms and providing a salivary specimen, this can be undertaken at home at your own leisure and should take no longer than 30 minutes. Lab staff will be available to answer any questions that the collaborator and/or any participant may have, and to describe the informed consent process.

Each participant will provide:

  1. Informed Consent- All participants need to carefully read and sign informed consent forms, authorizing our lab to perform studies on their samples. Each participant family member needs to sign a consent form. A parent/guardian should provide consent if the participant is less than 18 years old. Participants will also be asked to complete a participation data sheet.
  2. Permission for Release of Medical Information - We will ask you to sign a medical release form providing us with permission to obtain medical records that are relevant to the diagnosis in the family.
  3. Salivary specimen (or occasionally a blood sample) - We ask for a saliva sample from all available and consenting family members, from which we will extract DNA. Providing the sample is very quick and easy and simply requires your 'spitting' into a collection vessel. It is necessary, however, that you do not eat for 30 minutes prior to providing the sample. Occasionally, if the participant is very young or unable to provide a salivary specimen it may be necessary to ask for a blood sample. The DNA will be screened for alterations in genes that may cause the CCDD disease in the family.

To aid in documenting the participant's ophthalmologic exam we will request that their ophthalmologist complete a physician information sheet whenever possible. The exam is routine, noninvasive, and involves no discomfort, and will include a description of lid and eye position and movement, pupil size and reactivity, fundus examination, and vision refraction. With the participant's permission and informed consent, photographs and/or video recordings of eye position and movement will be made.

There is no fee for you to participate in this study as all costs will be covered by our research grants