Bardet-Biedl SyndromeCRIBBSNCT02329210
Clinical Registry Investigating Bardet-Biedl Syndrome
An observational study of Bardet-Biedl Syndrome, run by Marshfield Clinic Research Foundation at 1 site in United States.
Trial summary
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital to better understanding this complex disease and designing effective treatments. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Bardet-Biedl Syndrome
- How many people
- 1,200 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2014to Dec 2030
- How long will I take part?
- 15 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals meeting the diagnostic criteria of Bardet-Biedl syndrome and/or with genetic confirmation of the condition are eligible for participation in CRIBBS. Deceased individuals meeting diagnostic and/or genetic criteria may also be enrolled by their next of kin.
Who may be able to join
None listed.
Who cannot join
- Individuals not meeting established genetic and/or phenotypic criteria
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Marshfield Clinic Research Foundation
Marshfield, Wisconsin, 54449
Deborah L Johnson, 715-387-9139, johnson.deborah@mcrf.mfldclin.edu
Robert M Haws, M.D., 715-387-5092, haws.robert@marshfieldclinic.org
About this study
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital to better understanding this complex disease and designing effective treatments.
Marshfield Clinic has developed the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) to gather comprehensive health information from patients diagnosed with BBS in a single repository. This information will be used to inform patients, families, and physicians about the complex features of BBS and will serve as a platform for researchers to develop effective and targeted treatment strategies for patients with BBS.
Read more
CRIBBS is a web-based, confidential database and the privacy of patients enrolled in the registry will always be respected. Information maintained in the database will be identifiable only by an assigned study identification number, not by name. The registry strictly complies with HIPAA regulations. CRIBBS participants may be contacted periodically with information regarding clinical trials or research studies, but participation is entirely voluntary.
CRIBBS will bring together complex genetic and clinical information from BBS patients to accelerate research into effective treatments, attract additional researchers, and make it easier for researchers to identify patients and find funding for innovative studies.
Read the detailed description
The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is an international registry for individuals with a rare genetic disorder called Bardet-Biedl syndrome (BBS). The registry is sustained by private philanthropic funding sources. The primary objective of establishing and sustaining CRIBBS is to enable clinical natural history studies and therapeutic trials in individuals with BBS.
Participation in CRIBBS is open to individuals meeting diagnostic criteria for BBS and/or genetic confirmation of the condition. Identification and recruitment of members will be accomplished in two approaches. First, family support organizations will share information regarding CRIBBS and encourage enrollment in the registry. Second, a website will be developed for participants, families and health care providers. This website provides a portal for registration as well as medical and new information impacting health care for individuals with BBS.
Selection and Enrollment of Participants:
A website portal at www.bbs-registry.org facilitates voluntary registration of interested individuals. A CRIBBS coordinator will contact the individual and/or family to establish that participants meet published diagnostic criteria and/or genetic criteria for BBS. Individuals meeting criteria will be consented and assigned a unique identifier.
Data collection:
Consented participants and/or their parent/guardian will be interviewed by a CRIBBS coordinator to collect demographic information as well as completion of a health questionnaire. Because CRIBBS is an international study and participants are geographically dispersed most individuals will be interviewed using secured telephone or Internet services. Participants will also be asked to complete behavioral health surveys. Health information from providers and treatment facilities will be obtained with appropriate authorization. The CRIBBS coordinator will conduct an annual update of health information and the behavioral health surveys will be repeated.
Data Safety Monitoring:
- Participant confidentiality: Participation in CRIBBS is voluntary and every effort will be made to ensure participant privacy. Interviews with participants will be carried out by a CRIBBS coordinator in closed room. Personal Health Information obtained for health information abstraction will be stored securely in a double locked environment and destroyed following data abstraction. CRIBBS makes use primarily of an electronic database which is password protected and only accessible to CRIBBS staff members.
- Data use: Participant information will be used to inform researchers of the natural history of BBS, refine research initiatives and facilitate new therapies for individuals with BBS. De-identified data will be shared researchers and organizations approved by the CRIBBS board of directors.
- Registry Oversight: The Marshfield Clinic Research Foundation Institutional Review Board provides oversight of the CRIBBS registry while the CRIBBS board of directors determine the direction and focus of the registry.
- Conditions
- Bardet-Biedl Syndrome
- Medical subject headings
- Bardet-Biedl Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical Registry Investigating Bardet-Biedl Syndrome
Natural history observational study of Bardet-Biedl syndrome
Measured: 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Dec 2014 (estimated)
- Study startJun 2014
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Bardet-Biedl SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,200 participants (estimated)
- Target duration
- 15 Years
Sponsor and investigators
- Lead sponsor
- Marshfield Clinic Research Foundation
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jeremy Pomeroy, PhD, Marshfield Clinic Research Foundation
- Investigators
- Robert M Haws, M.D., Principal investigator, Marshfield Clinic Research Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02329210
- Sponsor's protocol ID
- HAW10113
- Acronym
- CRIBBS
- Status last verified
- Jul 2022
- First submitted
- 26 Dec 2014
- Last updated
- 19 Jul 2022
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Publications
Haws RM, Kretz AD, Stankowski RV, Steiner RD. Bardet-Biedl syndrome: A model for translational research in rare disease. New Horizons in Translational Medicine 2: 102-109, 2015.
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA. Renal transplantation in Bardet-Biedl Syndrome. Pediatr Nephrol. 2016 Nov;31(11):2153-61. doi: 10.1007/s00467-016-3415-4. Epub 2016 Jun 1.
PubMed 27245600Panny A, Glurich I, Haws RM, Acharya A. Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. J Dent Res. 2017 Nov;96(12):1361-1369. doi: 10.1177/0022034517716913. Epub 2017 Jun 29.
PubMed 28662344Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM. Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. J Pediatr. 2019 Jan;204:31-37. doi: 10.1016/j.jpeds.2018.08.068. Epub 2018 Oct 4.
PubMed 30293640Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM. Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome. Pediatr Obes. 2021 Feb;16(2):e12703. doi: 10.1111/ijpo.12703. Epub 2020 Jul 22.
PubMed 32700463Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM. Kidney failure in Bardet-Biedl syndrome. Clin Genet. 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119.
PubMed 35112343Pomeroy JJ, Richards J, Sweeney BR, Kumar S, Queen KE, Zaritsky J, Cramer CH, Traboulsi EI, Scruggs BA, Davis EE, Keifer E, McGibbon E, Ogden T, De Graaf B, Hymers T, Forsythe E, Beales P. Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria. Am J Med Genet A. 2026 May 23. doi: 10.1002/ajmg.a.70199. Online ahead of print.
PubMed 42175648
Study at a glance
From the registry record, last updated by the sponsor on 19 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Registry Investigating Bardet-Biedl Syndrome
- ClinicalTrials.gov ID
- NCT02329210
- Acronym / sponsor ID
- CRIBBS / HAW10113
- Conditions
- Bardet-Biedl Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,200 participants (estimated)
- Lead sponsor
- Marshfield Clinic Research FoundationUniversity, hospital or other
- Study start
- Jun 2014
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 31 Dec 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital to better understanding this complex disease and designing effective treatments.
Marshfield Clinic has developed the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) to gather comprehensive health information from patients diagnosed with BBS in a single repository. This information will be used to inform patients, families, and physicians about the complex features of BBS and will serve as a platform for researchers to develop effective and targeted treatment strategies for patients with BBS.
CRIBBS is a web-based, confidential database and the privacy of patients enrolled in the registry will always be respected. Information maintained in the database will be identifiable only by an assigned study identification number, not by name. The registry strictly complies with HIPAA regulations. CRIBBS participants may be contacted periodically with information regarding clinical trials or research studies, but participation is entirely voluntary.
CRIBBS will bring together complex genetic and clinical information from BBS patients to accelerate research into effective treatments, attract additional researchers, and make it easier for researchers to identify patients and find funding for innovative studies.
Detailed description
The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is an international registry for individuals with a rare genetic disorder called Bardet-Biedl syndrome (BBS). The registry is sustained by private philanthropic funding sources. The primary objective of establishing and sustaining CRIBBS is to enable clinical natural history studies and therapeutic trials in individuals with BBS.
Participation in CRIBBS is open to individuals meeting diagnostic criteria for BBS and/or genetic confirmation of the condition. Identification and recruitment of members will be accomplished in two approaches. First, family support organizations will share information regarding CRIBBS and encourage enrollment in the registry. Second, a website will be developed for participants, families and health care providers. This website provides a portal for registration as well as medical and new information impacting health care for individuals with BBS.
Selection and Enrollment of Participants:
A website portal at www.bbs-registry.org facilitates voluntary registration of interested individuals. A CRIBBS coordinator will contact the individual and/or family to establish that participants meet published diagnostic criteria and/or genetic criteria for BBS. Individuals meeting criteria will be consented and assigned a unique identifier.
Data collection:
Consented participants and/or their parent/guardian will be interviewed by a CRIBBS coordinator to collect demographic information as well as completion of a health questionnaire. Because CRIBBS is an international study and participants are geographically dispersed most individuals will be interviewed using secured telephone or Internet services. Participants will also be asked to complete behavioral health surveys. Health information from providers and treatment facilities will be obtained with appropriate authorization. The CRIBBS coordinator will conduct an annual update of health information and the behavioral health surveys will be repeated.
Data Safety Monitoring:
- Participant confidentiality: Participation in CRIBBS is voluntary and every effort will be made to ensure participant privacy. Interviews with participants will be carried out by a CRIBBS coordinator in closed room. Personal Health Information obtained for health information abstraction will be stored securely in a double locked environment and destroyed following data abstraction. CRIBBS makes use primarily of an electronic database which is password protected and only accessible to CRIBBS staff members.
- Data use: Participant information will be used to inform researchers of the natural history of BBS, refine research initiatives and facilitate new therapies for individuals with BBS. De-identified data will be shared researchers and organizations approved by the CRIBBS board of directors.
- Registry Oversight: The Marshfield Clinic Research Foundation Institutional Review Board provides oversight of the CRIBBS registry while the CRIBBS board of directors determine the direction and focus of the registry.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 15 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals meeting the diagnostic criteria of Bardet-Biedl syndrome and/or with genetic confirmation of the condition are eligible for participation in CRIBBS. Deceased individuals meeting diagnostic and/or genetic criteria may also be enrolled by their next of kin.
Key inclusion criteria (0 listed)
Key exclusion criteria (1 listed)
- Individuals not meeting established genetic and/or phenotypic criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Clinical Registry Investigating Bardet-Biedl Syndrome
Time frame: 15 years
Natural history observational study of Bardet-Biedl syndrome
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jul 2022.
- BackgroundHaws RM, Kretz AD, Stankowski RV, Steiner RD. Bardet-Biedl syndrome: A model for translational research in rare disease. New Horizons in Translational Medicine 2: 102-109, 2015.
- Background: PubMed 27245600Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA. Renal transplantation in Bardet-Biedl Syndrome. Pediatr Nephrol. 2016 Nov;31(11):2153-61. doi: 10.1007/s00467-016-3415-4. Epub 2016 Jun 1.
- Background: PubMed 28662344Panny A, Glurich I, Haws RM, Acharya A. Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. J Dent Res. 2017 Nov;96(12):1361-1369. doi: 10.1177/0022034517716913. Epub 2017 Jun 29.
- Background: PubMed 30293640Olson AJ, Krentz AD, Finta KM, Okorie UC, Haws RM. Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. J Pediatr. 2019 Jan;204:31-37. doi: 10.1016/j.jpeds.2018.08.068. Epub 2018 Oct 4.
- Background: PubMed 32700463Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM. Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome. Pediatr Obes. 2021 Feb;16(2):e12703. doi: 10.1111/ijpo.12703. Epub 2020 Jul 22.
- Background: PubMed 35112343Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM. Kidney failure in Bardet-Biedl syndrome. Clin Genet. 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119.
- Derived from this study: PubMed 42175648Pomeroy JJ, Richards J, Sweeney BR, Kumar S, Queen KE, Zaritsky J, Cramer CH, Traboulsi EI, Scruggs BA, Davis EE, Keifer E, McGibbon E, Ogden T, De Graaf B, Hymers T, Forsythe E, Beales P. Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria. Am J Med Genet A. 2026 May 23. doi: 10.1002/ajmg.a.70199. Online ahead of print.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Robert M Haws, M.D. principal investigator
Marshfield Clinic Research Institute
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Bardet-Biedl Syndrome, run by Marshfield Clinic Research Foundation at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 19 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Deborah L Johnson (877-594-3499, cribbs@mcrf.mfldclin.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical Registry Investigating Bardet-Biedl Syndrome (time frame: 15 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02329210, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jul 2022.