Disease · MONDO_0015229

Bardet-Biedl syndrome

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Bardet-Biedl syndrome. Diseases, record MONDO_0015229. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0015229

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: Bardet-Biedl syndrome; Open Targets
Open Targets ID: MONDO_0015229; Open Targets
Other names: BBS; Open Targets
Disease Ontology: DOID:1935; Disease Ontology
MeSH: D020788; MeSH
NCI Thesaurus: C118632; NCI Thesaurus
Orphanet: ORPHA:110; Orphanet
Highest stage of its drugs: Approval, for 1 of its 2 drugs, from ClinicalTrials.gov; Open Targets

Drugs2

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
SETMELANOTIDE	CHEMBL3301624	Protein	Approval	ClinicalTrials.gov	4	3	3	Drugs and targets
METFORMIN	CHEMBL1431	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets52

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
COXFA4	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/4697	Drugs and targets
COXFA4L2	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/56901	Drugs and targets
GPD2	Glycerol-3-phosphate dehydrogenase, mitochondrial	1	Mitochondrial glycerol-3-phosphate dehydrogenase inhibitor	Phase 2	https://conductscience.org/library/genes/2820	Drugs and targets
MC4R	Melanocortin receptor 4	1	Melanocortin receptor 4 agonist	Approval	https://conductscience.org/library/genes/4160	Drugs and targets
MT-ND1	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/4535	Drugs and targets
MT-ND2	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/4536	Drugs and targets
MT-ND3	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/4537	Drugs and targets
MT-ND4	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/4538	Drugs and targets
MT-ND4L	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/4539	Drugs and targets
MT-ND5	Mitochondrial complex I (NADH dehydrogenase)	1	Mitochondrial complex I (NADH dehydrogenase) inhibitor	Phase 2	https://conductscience.org/library/genes/4540	Drugs and targets

1 to 10 of 52

See all 52 targets

Trials4

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT03013543	Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity	Phase 2	213	2023-08-18	Genetic Obesity, Obesity, Obesity Due to Melanocortin 4 Receptor Deficiency	SETMELANOTIDE	Its record names the disease	ClinicalTrials.gov
NCT05194124	Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway	Phase 3	19	2024-11-26	Bardet-Biedl Syndrome, POMC Deficiency	SETMELANOTIDE	Its record names the disease	ClinicalTrials.gov
NCT03490019	Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement	Phase 2	0		Bardet-Biedl Syndrome, Visual Impairment	METFORMIN	Its record names the disease	ClinicalTrials.gov
NCT05183802	An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)				Bardet-Biedl Syndrome (BBS), Obesity	SETMELANOTIDE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials0

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

None in this release.

Papers from its trials2

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
36961653	DERIVED	1	PubMed
35112343	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0015229

GET https://conductscience.org/api/diseases/v1/MONDO_0015229/targets?page=2

API reference For AI assistants