Bardet-Biedl syndrome
MONDO:0015229A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems
Also known as: BBS, Bardet-Biedl syndrome
8 clinical trials for this condition and its sub-types.
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Broader categories
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Could a drug that targets the brain's hunger pathway help people with Bardet-Biedl syndrome?
Disease control Recruiting nowThis study looks at how well setmelanotide works in real-world settings for people with Bardet-Biedl syndrome, a rare genetic condition that causes severe obesity and constant hunger. Researchers will track changes in body mass index, cholesterol, liver fat, and quality of life i…
Phase: PHASE4 • Sponsor: Tom Hühne • Aim: Disease control
Last updated Jul 01, 2026 00:00 UTC
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New registry aims to unlock secrets of rare Kidney-Liver diseases
Knowledge-focused Recruiting nowThis study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Thousands join fight against blindness by sharing their stories
Knowledge-focused Recruiting nowThis registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …
Sponsor: Foundation Fighting Blindness • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:36 UTC
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Scientists hunt for drug targets in rare kidney disorder
Knowledge-focused Recruiting nowThis study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…
Phase: NA • Sponsor: Imagine Institute • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:13 UTC