Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS)
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| ClinicalTrials.gov Identifier: NCT02329210 |
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Recruitment Status :
Recruiting
First Posted : December 31, 2014
Last Update Posted : November 1, 2018
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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.
| Condition or disease |
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| Bardet-Biedl Syndrome |
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 with the Global Rare Diseases Registry Data Repository (GRDR) maintained by the National Center for Advancing Translational Sciences at the National Institutes of Health and with other 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 Type : | Observational [Patient Registry] |
| Estimated Enrollment : | 500 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Target Follow-Up Duration: | 10 Years |
| Official Title: | Clinical Registry Investigating Bardet-Biedl Syndrome |
| Study Start Date : | June 2014 |
| Estimated Primary Completion Date : | December 2025 |
| Estimated Study Completion Date : | December 2025 |
- Clinical Registry Investigating Bardet-Biedl Syndrome [ Time Frame: 10years ]Natural history observational study of Bardet-Biedl syndrome
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Inclusion Criteria: (1) Genetic confirmation of homozygosity for an established gene mutation associated with BBS or (2) manifest four primary features of BBS or (3) manifest three primary features plus two secondary features.
Primary Features: Rod-Cone dystrophy, Polydactyly, Obesity, Learning disabilities, Hypogonadism in males, Renal anomalies
Secondary Features: Speech disorder/delay, Strabismus/cataracts/astigmatism, Brachydactyly/syndactyly, Developmental delay, Polyuria/polydipsia, Ataxia/poor coordination/imbalance, Mild spasticity (especially lower extremities), Left ventricular hypertrophy/congenital heart disease, Hepatic fibrosis
Exclusion Criteria:
Individuals not meeting established genetic and/or phenotypic criteria
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02329210
| Contact: Deborah L Johnson | 715-387-9139 | johnson.deborah@mcrf.mfldclin.edu | |
| Contact: Robert M Haws, M.D. | 715-387-5092 | haws.robert@marshfieldclinic.org |
| United States, Wisconsin | |
| Marshfield Clinic Research Foundation | Recruiting |
| Marshfield, Wisconsin, United States, 54449 | |
| Contact: Deborah L Johnson 715-387-9139 johnson.deborah@mcrf.mfldclin.edu | |
| Contact: Robert M Haws, M.D. 715-387-5092 haws.robert@marshfieldclinic.org | |
| Principal Investigator: | Robert M Haws, M.D. | Marshfield Clinic Research Foundation |
Additional Information:
Publications:
| Responsible Party: | Robert Haws, M.D., Director, Clinical Research Center, Marshfield Clinic Research Foundation |
| ClinicalTrials.gov Identifier: | NCT02329210 History of Changes |
| Other Study ID Numbers: |
HAW10113 |
| First Posted: | December 31, 2014 Key Record Dates |
| Last Update Posted: | November 1, 2018 |
| Last Verified: | October 2018 |
| Individual Participant Data (IPD) Sharing Statement: | |
| Plan to Share IPD: | Yes |
| Plan Description: | De-identified data is shared the NIH/NCATS GRDR® Program. |
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Bardet-Biedl Syndrome Laurence-Moon Syndrome Syndrome Disease Pathologic Processes Hypothalamic Diseases Brain Diseases Central Nervous System Diseases |
Nervous System Diseases Retinitis Pigmentosa Eye Diseases, Hereditary Eye Diseases Ciliopathies Abnormalities, Multiple Congenital Abnormalities Genetic Diseases, Inborn |