Bardet-Biedl Syndrome

Research Updates (10)Clinical Trials (7)

Browse recruiting and upcoming clinical trials for Bardet-Biedl syndrome.

Patient-friendly, AI-assisted summaries based on official ClinicalTrials.gov ↗ records. Last updated: Oct 10, 2026

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7 trials

Sex

Age

Countries

Recruiting

Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity

NCT07674290

Who can join AIPeople with Bardet‑Biedl syndrome or Alström syndrome who are receiving an approved MC4R agonist (setmelanotide).

What is being studied AICollects real-world safety, weight, metabolic, cognitive, and quality-of-life data for MC4R agonist therapy.

Study typeTreatment (drug) · Phase 4

CountriesGermany

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Recruiting

First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration

NCT07269665

Who can join AIChildren aged 4 to 17 with genetically confirmed bi‑allelic BBS1 mutations and retinal degeneration.

What is being studied AITests safety, tolerability, dose finding, and AXV-101 levels in blood, urine and tears.

Study typeTreatment (drug) · Early Phase 1

CountriesUnited Kingdom

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Recruiting

COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study

NCT04461444

Who can join AIPeople (any sex) with Bardet-Biedl syndrome (BBS) or Alström syndrome (ALMS), age 4 months and older.

What is being studied AICollects clinical, biological and quality-of-life data; includes genetic testing via skin biopsy.

Study typeOther

CountriesFrance

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Recruiting

GROWing Up With Rare GENEtic Syndromes

NCT04463316

Who can join AIAdults (18+) with complex rare genetic syndromes listed in the study, e.g., Prader‑Willi, Turner, Noonan, Rett and others.

What is being studied AICollects and analyzes adult medical records to describe health problems, labs, symptoms, and medication use.

Study typeObservational

CountriesNetherlands

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Recruiting

ARPKD Database Study

NCT01401998

Who can join AIPeople aged up to 18 years with hepato/renal fibrocystic diseases (for example ARPKD, Joubert, Bardet‑Biedl, CHF, Caroli).

What is being studied AICollects clinical records, genetic (DNA) data, and stored tissue samples for a hepato/renal fibrocystic diseases resource.

Study typeObservational

CountriesUnited States

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Recruiting

Inherited Retinal Degenerative Disease Registry

NCT02435940

Who can join AIPeople of any age diagnosed with an inherited retinal degenerative disease (examples: retinitis pigmentosa, Leber congenital amaurosis, Stargardt, Usher).

What is being studied AICollects patient-reported, family, clinical, and genetic data about inherited retinal diseases.

Study typeRegistry

CountriesUnited States

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Recruiting

Clinical Registry Investigating Bardet-Biedl Syndrome

NCT02329210

Who can join AIPeople with Bardet‑Biedl syndrome (BBS) with genetic confirmation or who meet the registry's diagnostic criteria.

What is being studied AICollects clinical and genetic information over time in people with Bardet-Biedl syndrome.

Study typeRegistry

CountriesUnited States

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