Disease

Bardet-Biedl Syndrome

Late-stage therapeutic developmentEmerging research

MeSHBardet-Biedl Syndrome

Publications

Clinical trials

2024

Latest publication

Latest activity

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Recent clinical, regulatory, research and industry developments relating to this disease.

Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction.

Research2024-02-01Diabetes, obesity & metabolism

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low

Key developments

1 clinical trial expected to report results, the earliest in Q4 2030.

Upcoming Milestones

Q4 2030Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional Study

Major developments

Upcoming trial readoutHigh impact

Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional Study

Results expected Q4 20302026-06-29

Clinical Milestones1View

Results expected 1

2026-06-29Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional StudyResults expected Q4 2030

Activity timeline1

2026-06-29ClinicalReal-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional StudyResults expected Q4 2030

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies

Setmelanotideapproved

Approval — Imcivree is indicated for the treatment of obesity and the control of hunger in adults an… (2021)

Clinical trials

3 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme

All trials

Active

Late-stage

Completed

Late-stage studies

Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional Study

Phase 4 · Recruiting · Tom Hühne

A Phase 3 Multi-Center, 1-Year, Open-Label Study of Setmelanotide in Pediatric Patients Aged 2 to <6 Years of Age With Rare Genetic Causes of Obesity

Phase 3 · Completed · Rhythm Pharmaceuticals, Inc.

A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation

Phase 3 · Completed · Rhythm Pharmaceuticals, Inc.

Recruiting

Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional Study

Phase 4 · Recruiting · Tom Hühne

Recently completed

Phase 3 · Completed · Rhythm Pharmaceuticals, Inc.

A Phase 3 Multi-Center, 1-Year, Open-Label Study of Setmelanotide in Pediatric Patients Aged 2 to <6 Years of Age With Rare Genetic Causes of Obesity

Phase 3 · Completed · Rhythm Pharmaceuticals, Inc.

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals

2021emaApproval — Setmelanotide· Imcivree is indicated for the treatment of obesity and the control of hunger in adults and children 4 years of age and above with acquired hypothalamic obesity (aHO) due to hypothalamic injury or impairment.  Imcivree is indicated for the treatment of obesity and the control of hunger associated with genetically confirmed Bardet Biedl syndrome (BBS) in adults and children 2 years of age and above.  Imcivree is indicated for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic pro-opiomelanocortin (POMC), including PCSK1, deficiency or biallelic leptin receptor (LEPR) deficiency in adults and children 2 years of age and above.  source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Research activity

1 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Most influential

Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction.

Diabetes, obesity & metabolism · 2024 · 27 cites

Recent publications

Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction.

Diabetes, obesity & metabolism · 2024 · 27 cites

Major themes2

Bardet-Biedl Syndrome1
Diabetes Mellitus, Type 21

Leading journals1

Diabetes, obesity & metabolism1

Leading researchers1

Tomlinson JW1

Affiliations (unnormalised)1

Oxford Centre for Diabetes1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)

Identifiers

MeSHBardet-Biedl Syndrome

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
Related entities are derived from literature co-mention (studied together) — associative, not causal.