Clinical Registry Investigating Bardet Biedl Syndrome Foundation (CRIBBS)
Prepared by Jeremy Pomeroy, PhD, MS
The Clinical Registry Investigating Bardet Biedl Syndrome (CRIBBS) is an international registry hosted at the Marshfield Clinic Research Institute. CRIBBS is funded by the BBS Foundation. Individuals with BBS or the parent/caregiver of someone with BBS can enroll in CRIBBS through the CRIBBS website or by calling one of two CRIBBS toll-free numbers. The online registration and phone lines are available in English and Spanish. After enrollment and eligibility screening participants are asked to take part in an initial interview with a trained interviewer. Both current CRIBBS interviewers are bilingual in English and Spanish.
Frequency of Major Features reported at initial CRIBBS interview:
Rod-cone dystrophy 68.5%
Obesity 85.5%
Polydactyly 74.5%
Learning difficulties 71.8%
Hypogonadism 33.5%
Abnormalities of urinary tract 51.4%
Frequency of Minor Features reported at initial CRIBBS interview:
Speech delays 71.1%
Strabismus 57.4%
Brachydactyly 56.0%
Developmental delays 72.4%
Polyuria 24.4%
Awkward gait/imbalances 70.9%
Spasticity 7.9%
Diabetes Mellitus 7.9%
Dental Crowding 51.4%
Hepatic Fibrosis 11.1%
Congenital heart disease 8.1%
The initial interview consists of questions about the BBS diagnosis, demographic questions, family history, as well as questions about health issues related to BBS. Participants are given the opportunity to consent to being contacted about participation in additional research. The interview covers questions regarding neurology, sleep, bone and joint issues, vision, oral health, renal history, respiratory health, cardiac, endocrine, reproduction, digestive, psychological/behavioral health, general quality of life, sensory issues, developmental milestones, speech and language development, general quality of life, as well as miscellaneous issues including cancer diagnosis. Participants or parents/caregivers are also asked about surgical history, and a list of current medications, as well as experience with specific tests like ERGs and OCTs and for information about where these tests were conducted. As of February 13, 2025 785 people have completed the initial interview.
We also ask for participation in annual follow up interviews. The follow up interviews include questions about changes in health since the last interview including new diagnoses, symptoms, or medical or laboratory tests. Follow up interviews also include the addition of questionnaires including the Hyperphagia Questionnaire at follow ups 4, 6, and 8, along with the Symptoms and Impacts of Hyperphagia Questionnaires at follow ups 8 and 9. As of February 13, 2025, 387 have more than three interviews and 25 have completed all 10 interviews.
We attempt to get copies of medical records including labs and genetic testing reports. In a recent study we were able to abstract nearly 1200 hemoglobin A1c measures from 312 participants. As of January 31, 2025, 63% of participants reported ever having an ERG and 33% reported ever having an OCT exam. Over 98% gave us permission to obtain results. CRIBBS falls under the jurisdiction of the Marshfield Clinic Research Institute Institutional Review Board (IRB). Summary level data can be shared without need for IRB approval. Examples include the prevalence of type 2 diabetes in CRIBBS, or the percentage of people with BBS who are diagnosed with each of the major and minor diagnostic criteria. Individual level de-identified data can be shared with collaborators. Either an IRB approved protocol or an IRB approved amendment to an existing protocol is needed. A data transfer agreement between institutions is needed as well. Individual data with personally identifiable information can be shared. In addition to the approvals for de-identified data individual informed consents are also needed. The informed consent must be approved by the Marshfield Clinic Research Institute IRB.
