CCDC28B

Summary

CCDC28B (coiled-coil domain containing 28B, HGNC:28163) is a protein-coding gene on chromosome 1p35.2, encoding Coiled-coil domain-containing protein 28B (Q9BUN5). Involved in ciliogenesis.

The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 79140 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Bardet-Biedl syndrome 1 (No Known Disease Relationship, GenCC)
• Clinical variants (ClinVar): 58 total
• Phenotypes (HPO): 66
• MANE Select transcript: NM_024296

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28163
Approved symbol	CCDC28B
Name	coiled-coil domain containing 28B
Location	1p35.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC1203, RP4-622L5.5, LTAP2B
Ensembl gene	ENSG00000160050
Ensembl biotype	protein_coding
OMIM	610162
Entrez	79140

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000373602, ENST00000421922, ENST00000461819, ENST00000469003, ENST00000483009, ENST00000680046, ENST00000680626, ENST00000681089, ENST00000681230, ENST00000868525, ENST00000868526, ENST00000934297, ENST00000966999

RefSeq mRNA: 2 — MANE Select: NM_024296 NM_001301011, NM_024296

CCDS: CCDS354, CCDS72749

Canonical transcript exons

ENST00000373602 — 6 exons

Exon	Start	End
ENSE00001049460	32204186	32204379
ENSE00001812361	32200595	32200709
ENSE00001900646	32205194	32205387
ENSE00003589324	32204598	32204620
ENSE00003645136	32203879	32204045
ENSE00003914661	32201913	32202099

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 97.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1057 / max 162.3651, expressed in 1568 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1956	7.4527	1553
1958	1.1873	383
1957	0.4657	224

Top tissues by expression

276 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	97.23	gold quality
gastrocnemius	UBERON:0001388	95.52	gold quality
muscle of leg	UBERON:0001383	95.05	gold quality
triceps brachii	UBERON:0001509	94.10	gold quality
muscle organ	UBERON:0001630	94.09	gold quality
right uterine tube	UBERON:0001302	93.79	gold quality
cortical plate	UBERON:0005343	93.45	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	92.85	gold quality
right testis	UBERON:0004534	92.41	gold quality
left testis	UBERON:0004533	92.24	gold quality
skeletal muscle tissue	UBERON:0001134	91.72	gold quality
vastus lateralis	UBERON:0001379	91.61	gold quality
adenohypophysis	UBERON:0002196	91.44	gold quality
apex of heart	UBERON:0002098	91.16	gold quality
quadriceps femoris	UBERON:0001377	91.09	gold quality
ganglionic eminence	UBERON:0004023	90.86	gold quality
biceps brachii	UBERON:0001507	90.80	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.61	gold quality
cerebellar hemisphere	UBERON:0002245	90.46	gold quality
cerebellar cortex	UBERON:0002129	90.38	gold quality
pituitary gland	UBERON:0000007	90.34	gold quality
testis	UBERON:0000473	89.74	gold quality
gluteal muscle	UBERON:0002000	89.50	gold quality
muscle tissue	UBERON:0002385	89.37	gold quality
cerebellum	UBERON:0002037	89.16	gold quality
right adrenal gland cortex	UBERON:0035827	89.15	gold quality
right adrenal gland	UBERON:0001233	88.85	gold quality
granulocyte	CL:0000094	88.62	gold quality
left adrenal gland cortex	UBERON:0035825	88.19	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-8498	yes	647.28
E-CURD-112	yes	32.25
E-HCAD-6	yes	18.28
E-ANND-3	yes	5.92
E-MTAB-6386	no	86.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting CCDC28B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-29B-1-5P	98.86	68.35	1364
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491

Literature-anchored findings (GeneRIF, showing 5)

• identification of a novel locus, MGC1203, that contributes epistatic alleles to Bardet-Biedl syndrome, a pleiotropic, oligogenic disorder; MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins (PMID:16327777)
• reports CCDC28B as a novel protein involved in the process of ciliogenesis whilst providing functional insight into the cellular basis of its modifier effect in Bardet-Biedl syndrome. (PMID:23015189)
• Findings implicate CCDC28B in the regulation of mTORC2, and uncover a novel function of SIN1 regulating cilia length that is likely independent of mTOR signaling. (PMID:23727834)
• these studies demonstrate that kinesin 1 regulates ciliogenesis through CCDC28B (PMID:29445114)
• A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly. (PMID:34294890)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccdc28b	ENSDARG00000011222
mus_musculus	Ccdc28b	ENSMUSG00000028795
rattus_norvegicus	Ccdc28b	ENSRNOG00000047578
drosophila_melanogaster	CG10874	FBGN0031395

Paralogs (1): CCDC28A (ENSG00000024862)

Protein

Protein identifiers

Coiled-coil domain-containing protein 28B — Q9BUN5 (reviewed: Q9BUN5)

All UniProt accessions (3): Q9BUN5, A0A7P0TB33, E9PM81

UniProt curated annotations — full annotation on UniProt →

Function. Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex.

Subunit / interactions. Interacts with BBS1, BBS2, BBS4, BBS5, BBS6, BBS7 and TTC8/BBS8. Interacts with MAPKAP1/SIN1 isoform 1 and RICTOR.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.

Disease relevance. Bardet-Biedl syndrome (BBS) [MIM:209900] A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The gene represented in this entry acts as a disease modifier.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BUN5-1	1	yes
Q9BUN5-3	2

RefSeq proteins (2): NP_001287940, NP_077272* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025271	CCDC28	Family

Pfam: PF13270

UniProt features (11 total): modified residue 3, region of interest 2, compositionally biased region 2, chain 1, sequence variant 1, coiled-coil region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BUN5-F1	71.15	0.28

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 1, 46, 115

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 281 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_BEHAVIOR, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTRASPECIES_INTERACTION_BETWEEN_ORGANISMS, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, DODD_NASOPHARYNGEAL_CARCINOMA_UP, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_CELL_PROJECTION_ORGANIZATION, SCHLINGEMANN_SKIN_CARCINOGENESIS_TPA_DN, chr1p35, THUM_SYSTOLIC_HEART_FAILURE_DN, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_DN, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN

GO Biological Process (2): cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): centrosome (GO:0005813), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
binding	1
centriole	1
microtubule organizing center	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

332 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC28B	BBS4	Q96RK4	873
CCDC28B	BBS1	Q8NFJ9	862
CCDC28B	BBS7	Q8IWZ6	847
CCDC28B	TTC8	Q8TAM2	844
CCDC28B	BBS5	Q8N3I7	836
CCDC28B	WDPCP	O95876	820
CCDC28B	BBS12	Q6ZW61	817
CCDC28B	MKS1	Q9NXB0	801
CCDC28B	BBS10	Q8TAM1	801
CCDC28B	TMEM67	Q5HYA8	754
CCDC28B	BBS9	P78514	729
CCDC28B	BBS2	Q9BXC9	729
CCDC28B	TRIM32	Q13049	726
CCDC28B	CEP290	O15078	694
CCDC28B	SREK1IP1	Q8N9Q2	548

IntAct

29 interactions, top by confidence:

A	B	Type	Score
CCDC28B	ATRIP	psi-mi:“MI:0915”(physical association)	0.560
ATRIP	CCDC28B	psi-mi:“MI:0915”(physical association)	0.560
CCDC28B	HSPA1L	psi-mi:“MI:0914”(association)	0.510
CCDC28B	BBS4	psi-mi:“MI:0915”(physical association)	0.510
CCDC28B	BBS1	psi-mi:“MI:0915”(physical association)	0.400
CCDC28B	TTC8	psi-mi:“MI:0915”(physical association)	0.400
CCDC28B	MKKS	psi-mi:“MI:0915”(physical association)	0.400
CCDC28B	BBS5	psi-mi:“MI:0915”(physical association)	0.400
CCDC28B	BBS2	psi-mi:“MI:0915”(physical association)	0.400
CCDC28B	BBS7	psi-mi:“MI:0915”(physical association)	0.400
IFT81	IFT56	psi-mi:“MI:0914”(association)	0.350
OSGEP	HYKK	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
LAGE3	HYKK	psi-mi:“MI:0914”(association)	0.350
S100A6	VWA8	psi-mi:“MI:0914”(association)	0.350
S100A4	VWA8	psi-mi:“MI:0914”(association)	0.350
NAA30	HARS2	psi-mi:“MI:0914”(association)	0.350
CCDC28B	IFT74	psi-mi:“MI:0915”(physical association)	0.000
HSPA1L	CCDC28B	psi-mi:“MI:0915”(physical association)	0.000
PRAME	CCDC28B	psi-mi:“MI:0915”(physical association)	0.000
LAGE3	CCDC28B	psi-mi:“MI:0915”(physical association)	0.000
IFT81	CCDC28B	psi-mi:“MI:0915”(physical association)	0.000
OSGEP	CCDC28B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (28): ATRIP (Two-hybrid), CCDC28B (Reconstituted Complex), CCDC28B (Affinity Capture-MS), CCDC28B (Affinity Capture-MS), CCDC28B (Affinity Capture-MS), CCDC28B (Affinity Capture-MS), CCDC28B (Affinity Capture-MS), CCDC28B (Affinity Capture-MS), IFT74 (Affinity Capture-MS), CCDC28B (Affinity Capture-RNA), CCDC28B (Two-hybrid), CCDC28B (Two-hybrid), CCDC28B (Two-hybrid), SCNM1 (Two-hybrid), GRB2 (Two-hybrid)

ESM2 similar proteins: A0A287BDC1, A8YXY8, B1AXD8, B3F209, B3KU38, B5DF41, O00287, O14503, O15079, O35185, O54972, P03966, P04198, P12755, P18444, P26014, Q0D2I5, Q25C79, Q2KJ58, Q3MHV6, Q3UR85, Q50H33, Q53H80, Q5BL57, Q5EA15, Q5FWN7, Q5RAI7, Q60591, Q60698, Q61976, Q63379, Q68FF7, Q6GQB5, Q6ZWB6, Q7ZY70, Q8BXL9, Q8CEG5, Q8CI08, Q8N228, Q8ND83

Diamond homologs: Q8CEG5, Q8IWP9, Q9BUN5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
BBSome-mediated cargo-targeting to cilium	7	193.1×	8e-14
Cargo trafficking to the periciliary membrane	6	82.8×	1e-09
Cilium Assembly	6	36.2×	2e-07
Organelle biogenesis and maintenance	6	22.0×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
melanosome transport	5	174.1×	3e-09
non-motile cilium assembly	7	92.5×	5e-11
fat cell differentiation	6	49.4×	5e-08
cilium assembly	10	33.5×	1e-11
visual perception	6	21.7×	3e-06
protein transport	5	10.0×	7e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

58 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	2
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

977 predictions. Top by Δscore:

Variant	Effect	Δscore
1:32201912:G:GT	acceptor_loss	1.0000
1:32202100:G:T	donor_loss	1.0000
1:32202101:T:G	donor_loss	1.0000
1:32202681:A:T	donor_gain	1.0000
1:32203877:A:AG	acceptor_gain	1.0000
1:32203878:G:GG	acceptor_gain	1.0000
1:32203878:GA:G	acceptor_gain	1.0000
1:32203878:GAGTA:G	acceptor_gain	1.0000
1:32204043:TCGGT:T	donor_loss	1.0000
1:32204044:CGGTG:C	donor_loss	1.0000
1:32204045:GGTG:G	donor_loss	1.0000
1:32204046:G:C	donor_loss	1.0000
1:32204046:G:GG	donor_gain	1.0000
1:32204047:T:A	donor_loss	1.0000
1:32204375:GCAAT:G	donor_gain	1.0000
1:32204378:AT:A	donor_gain	1.0000
1:32204380:G:GG	donor_gain	1.0000
1:32201272:G:GT	donor_gain	0.9900
1:32201306:G:GT	donor_gain	0.9900
1:32201893:T:TA	acceptor_gain	0.9900
1:32201894:G:A	acceptor_gain	0.9900
1:32201911:A:AG	acceptor_gain	0.9900
1:32201911:AG:A	acceptor_gain	0.9900
1:32201912:G:GA	acceptor_gain	0.9900
1:32201912:GG:G	acceptor_gain	0.9900
1:32201912:GGCCT:G	acceptor_gain	0.9900
1:32202097:GAG:G	donor_gain	0.9900
1:32202098:AGGTG:A	donor_gain	0.9900
1:32202692:A:T	donor_gain	0.9900
1:32203873:A:AG	acceptor_gain	0.9900

AlphaMissense

1303 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:32203955:T:C	F81L	1.000
1:32203957:C:A	F81L	1.000
1:32203957:C:G	F81L	1.000
1:32203998:T:A	L95H	1.000
1:32203998:T:C	L95P	1.000
1:32204007:T:C	L98P	1.000
1:32204010:T:A	L99H	1.000
1:32204010:T:C	L99P	1.000
1:32204018:T:C	F102L	1.000
1:32204019:T:C	F102S	1.000
1:32204019:T:G	F102C	1.000
1:32204020:C:A	F102L	1.000
1:32204020:C:G	F102L	1.000
1:32204034:T:C	L107P	1.000
1:32204042:T:C	F110L	1.000
1:32204044:C:A	F110L	1.000
1:32204044:C:G	F110L	1.000
1:32204210:T:C	L119P	1.000
1:32204219:T:A	V122D	1.000
1:32204222:G:C	R123P	1.000
1:32204231:A:C	Q126P	1.000
1:32204232:G:C	Q126H	1.000
1:32204232:G:T	Q126H	1.000
1:32204240:T:C	L129P	1.000
1:32204242:G:C	A130P	1.000
1:32204243:C:A	A130D	1.000
1:32204249:T:C	L132P	1.000
1:32204251:C:G	H133D	1.000
1:32204254:T:C	F134L	1.000
1:32204255:T:C	F134S	1.000

dbSNP variants (sampled 300 via entrez): RS1000374182 (1:32197781 T>C), RS1000383939 (1:32204373 T>A,C), RS1000484779 (1:32198342 C>G,T), RS1000797794 (1:32203708 C>T), RS1001005750 (1:32197477 C>T), RS1001100101 (1:32203994 G>A), RS1001436545 (1:32205511 C>A,G,T), RS1001647015 (1:32199212 A>G), RS1002125984 (1:32194111 G>A), RS1002206483 (1:32199904 G>T), RS1002326428 (1:32195967 ATTTCTTTTTCTTTTTTTTTTTT>A), RS1002880861 (1:32202814 T>C), RS1002956364 (1:32196766 C>G,T), RS1003001769 (1:32200407 G>A), RS1003398158 (1:32196379 T>C,G)

Disease associations

OMIM: gene MIM:610162 | disease phenotypes: MIM:209900

GenCC curated gene-disease

Disease	Classification	Inheritance
Bardet-Biedl syndrome 1	No Known Disease Relationship	Autosomal recessive

Mondo (2): Bardet-Biedl syndrome (MONDO:0015229), Bardet-Biedl syndrome 1 (MONDO:0008854)

Orphanet (1): Bardet-Biedl syndrome (Orphanet:110)

HPO phenotypes

66 total (30 of 66 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000054	Micropenis
HP:0000077	Abnormality of the kidney
HP:0000135	Hypogonadism
HP:0000137	Abnormality of the ovary
HP:0000148	Vaginal atresia
HP:0000218	High palate
HP:0000256	Macrocephaly
HP:0000365	Hearing impairment
HP:0000483	Astigmatism
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000556	Retinal dystrophy
HP:0000639	Nystagmus
HP:0000662	Nyctalopia
HP:0000668	Hypodontia
HP:0000678	Dental crowding
HP:0000750	Delayed speech and language development
HP:0000786	Primary amenorrhea
HP:0000819	Diabetes mellitus
HP:0000822	Hypertension
HP:0000855	Insulin resistance
HP:0001007	Hirsutism
HP:0001080	Biliary tract abnormality
HP:0001156	Brachydactyly

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
C537909	Bardet-Biedl syndrome 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, decreases methylation, affects cotreatment	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
trichostatin A	decreases expression	1
arsenite	increases methylation	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases response to substance	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	decreases expression	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

18 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03746522	PHASE3	COMPLETED	Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity
NCT04966741	PHASE3	COMPLETED	Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
NCT05194124	PHASE3	COMPLETED	Phase 3 Crossover Trial of Two Formulations of Setmelanotide in Participants With Specific Gene Defects in the MC4R Pathway
NCT03490019	PHASE2	WITHDRAWN	Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement
NCT07269665	EARLY_PHASE1	NOT_YET_RECRUITING	First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
NCT00078091	Not specified	TERMINATED	Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
NCT00213811	Not specified	COMPLETED	Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT02329210	Not specified	RECRUITING	Clinical Registry Investigating Bardet-Biedl Syndrome
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