Bardet-Biedl Syndrome Clinical Trial
— CRIBBSOfficial title:
Clinical Registry Investigating Bardet-Biedl Syndrome
NCT number | NCT02329210 |
Other study ID # | HAW10113 |
Secondary ID | |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | June 2014 |
Est. completion date | December 2030 |
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.
Status | Recruiting |
Enrollment | 1200 |
Est. completion date | December 2030 |
Est. primary completion date | December 2030 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: (1) Genetic confirmation of 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 |
Country | Name | City | State |
---|---|---|---|
United States | Marshfield Clinic Research Foundation | Marshfield | Wisconsin |
Lead Sponsor | Collaborator |
---|---|
Marshfield Clinic Research Foundation |
United States,
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. — View Citation
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.
Meyer 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. — View Citation
Olson 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. — View Citation
Panny 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. Review. — View Citation
Pomeroy 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. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Clinical Registry Investigating Bardet-Biedl Syndrome | Natural history observational study of Bardet-Biedl syndrome | 15 years |
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