Clinical Registry Investigating Bardet-Biedl Syndrome

NCT02329210 | Recruiting

• 1 other identifier: HAW10113
• Study Type: observational
• Target: 1,200
• Locations: 1 country
• Sites: 1

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.

Conditions

Bardet-Biedl Syndrome

Outcome Measures

Primary Outcomes (1)

• Clinical Registry Investigating Bardet-Biedl Syndrome

  Natural history observational study of Bardet-Biedl syndrome

  15 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• Individuals not meeting established genetic and/or phenotypic criteria

Sponsors & Collaborators

• Marshfield Clinic Research Foundation: lead

Study Sites (1)

Marshfield Clinic Research Foundation

Marshfield, Wisconsin, 54449, United States

RECRUITING

Related Publications (6)

• 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.

  BACKGROUND

• 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.

  PMID: 27245600 BACKGROUND

• 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.

  PMID: 28662344 BACKGROUND

• 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.

  PMID: 30293640 BACKGROUND

• 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.

  PMID: 32700463 BACKGROUND

• 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.

  PMID: 35112343 BACKGROUND

MeSH Terms

Conditions

Bardet-Biedl Syndrome

Condition Hierarchy (Ancestors)

Hypothalamic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Retinitis Pigmentosa; Eye Diseases, Hereditary; Eye Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Robert M Haws, M.D.

  Marshfield Clinic Research Institute

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Deborah L Johnson

CONTACT

877-594-3499; cribbs@mcrf.mfldclin.edu

Robert M Haws, M.D.

CONTACT

715-387-5092; haws.robert@marshfieldclinic.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 15 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director, Clinical Research Center

Study Record Dates

• First Submitted: December 26, 2014
• First Posted: December 31, 2014
• Study Start: June 1, 2014
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: July 19, 2022

Record last verified: 2022-07

Locations

US (1)