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Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02329210
Recruitment Status : Recruiting
First Posted : December 31, 2014
Last Update Posted : August 11, 2020
Sponsor:
Information provided by (Responsible Party):
Robert Haws, M.D., Marshfield Clinic Research Foundation

Tracking Information
First Submitted Date December 26, 2014
First Posted Date December 31, 2014
Last Update Posted Date August 11, 2020
Study Start Date June 2014
Estimated Primary Completion Date December 2030   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: December 26, 2014)
Clinical Registry Investigating Bardet-Biedl Syndrome [ Time Frame: 10years ]
Natural history observational study of Bardet-Biedl syndrome
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical Registry Investigating Bardet-Biedl Syndrome
Official Title Clinical Registry Investigating Bardet-Biedl Syndrome
Brief 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.

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 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]
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration 10 Years
Biospecimen Not Provided
Sampling Method Non-Probability Sample
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.
Condition Bardet-Biedl Syndrome
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: December 26, 2014)
500
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2030
Estimated Primary Completion Date December 2030   (Final data collection date for primary outcome measure)
Eligibility Criteria

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

Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Deborah L Johnson 877-594-3499 cribbs@mcrf.mfldclin.edu
Contact: Robert M Haws, M.D. 715-387-5092 haws.robert@marshfieldclinic.org
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02329210
Other Study ID Numbers HAW10113
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Yes
Plan Description: De-identified data is shared the NIH/NCATS GRDR® Program.
Responsible Party Robert Haws, M.D., Marshfield Clinic Research Foundation
Study Sponsor Marshfield Clinic Research Foundation
Collaborators Not Provided
Investigators
Principal Investigator: Robert M Haws, M.D. Marshfield Clinic Research Institute
PRS Account Marshfield Clinic Research Foundation
Verification Date August 2020