Beckwith-Wiedemann Syndrome (BWS) Overgrowth Registry
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Description
Thank you for your interest in the BWS Registry!
The BWS Registry was developed to improve our understanding and management of Beckwith-Wiedemann syndrome (BWS), hemihypertrophy/lateralized overgrowth, and other disorders.
The primary objective of this registry/repository is to store ongoing clinical data and biospecimens to facilitate the conduct of research on disorders of growth, genetic, and epigenetic alterations. This can also include storage of samples and data from relatives of the index patients to serve as study controls.
Families who wish to join the BWS Registry must give us permission (consent) for review of medical records and other optional parts of the study. Optional parts include sharing photographs, samples, and contact preferences. Once a family completes a consent form, each family member will be assigned a unique study number. To protect his/her identity, medical information (and samples as applicable) will be stored with this number.
The Informed Consent Form outlines each part of the study and reviews your choices for optional consents as well. Please click on the presentations to review what is involved in the study as well as the consent form process.
Eligibility and criteria
What to expect
Participation includes a review of medical history and we may collect of samples like blood or saliva to study now and in the future. The medical history and exam information will be stored securely in a registry and the samples will be kept safely in a biorepository.
Required study procedures are as follows:
- We will review your medical records every 6 months. This is the only required portion of the study.
Optional study procedures include the following:
- Physical exams, blood samples (to be coordinated with your clinical care visits), skin biopsy, collection of tissue specimens that are removed during a procedure that are not needed for medical care (and often would be thrown away), collection of other specimens (such as urine, saliva or a cheek swab), and photographs and audiovisual recordings. You do not need to do any of these optional procedures in order to participate in the study.
Related specialties
Related conditions
We need families like you
Your time and participation make a difference in supporting the work of the Research Institute and children in our community. Learn more about opportunities to participate in our research.