Ciliopathy
MONDO:0005308A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Also known as: ciliopathy, ciliopathies
49 clinical trials for this condition and its sub-types, 2 tagged with Ciliopathy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Ciliopathy
-
Primary ciliary dyskinesia 34 trials
59 sub-types
- Primary ciliary dyskinesia 1 6 trials
- CFAP46-related primary ciliary dyskinesia 0 trials
- Stromme syndrome 0 trials
- Ciliary discoordination due to random ciliary orientation 0 trials
- Ciliary dyskinesia with defective radial spokes 0 trials
- Ciliary dyskinesia with excessively long cilia 0 trials
- Ciliary dyskinesia with transposition of ciliary microtubules 0 trials
- Ciliary dyskinesia, primary, 36, X-linked 0 trials
- Ciliary dyskinesia, primary, 37 0 trials
- Ciliary dyskinesia, primary, 38 0 trials
- Ciliary dyskinesia, primary, 39 0 trials
- Ciliary dyskinesia, primary, 40 0 trials
- Ciliary dyskinesia, primary, 41 0 trials
- Ciliary dyskinesia, primary, 42 0 trials
- Ciliary dyskinesia, primary, 43 0 trials
- Ciliary dyskinesia, primary, 44 0 trials
- Ciliary dyskinesia, primary, 45 0 trials
- Ciliary dyskinesia, primary, 46 0 trials
- Ciliary dyskinesia, primary, 47, and lissencephaly 0 trials
- Ciliary dyskinesia, primary, 48, without situs inversus 0 trials
- Ciliary dyskinesia, primary, 49, without situs inversus 0 trials
- Ciliary dyskinesia, primary, 50 0 trials
- Ciliary dyskinesia, primary, 51 0 trials
- Ciliary dyskinesia, primary, 52 0 trials
- Ciliary dyskinesia, primary, 53 0 trials
- Ciliary dyskinesia, primary, 54 0 trials
- Primary ciliary dyskinesia 10 0 trials
- Primary ciliary dyskinesia 11 0 trials
- Primary ciliary dyskinesia 12 0 trials
- Primary ciliary dyskinesia 13 0 trials
- Primary ciliary dyskinesia 14 0 trials
- Primary ciliary dyskinesia 15 0 trials
- Primary ciliary dyskinesia 16 0 trials
- Primary ciliary dyskinesia 17 0 trials
- Primary ciliary dyskinesia 18 0 trials
- Primary ciliary dyskinesia 19 0 trials
- Primary ciliary dyskinesia 2 0 trials
- Primary ciliary dyskinesia 20 0 trials
- Primary ciliary dyskinesia 21 0 trials
- Primary ciliary dyskinesia 22 0 trials
- Primary ciliary dyskinesia 23 0 trials
- Primary ciliary dyskinesia 24 0 trials
- Primary ciliary dyskinesia 25 0 trials
- Primary ciliary dyskinesia 26 0 trials
- Primary ciliary dyskinesia 27 0 trials
- Primary ciliary dyskinesia 28 0 trials
- Primary ciliary dyskinesia 29 0 trials
- Primary ciliary dyskinesia 3 0 trials
- Primary ciliary dyskinesia 30 0 trials
- Primary ciliary dyskinesia 32 0 trials
- Primary ciliary dyskinesia 33 0 trials
- Primary ciliary dyskinesia 34 0 trials
- Primary ciliary dyskinesia 35 0 trials
- Primary ciliary dyskinesia 4 0 trials
- Primary ciliary dyskinesia 5 0 trials
- Primary ciliary dyskinesia 6 0 trials
- Primary ciliary dyskinesia 7 0 trials
- Primary ciliary dyskinesia 8 0 trials
- Primary ciliary dyskinesia 9 0 trials
-
Bardet-Biedl syndrome 6 trials · 7 incl. sub-types
22 sub-types
- Bardet-Biedl syndrome 1 1 trial
- Bardet-Biedl syndrome 10 0 trials
- Bardet-Biedl syndrome 11 0 trials
- Bardet-Biedl syndrome 12 0 trials
- Bardet-Biedl syndrome 13 0 trials
- Bardet-Biedl syndrome 14 0 trials
- Bardet-Biedl syndrome 15 0 trials
- Bardet-Biedl syndrome 16 0 trials
- Bardet-Biedl syndrome 17 0 trials
- Bardet-Biedl syndrome 18 0 trials
- Bardet-Biedl syndrome 19 0 trials
- Bardet-Biedl syndrome 2 0 trials
- Bardet-Biedl syndrome 20 0 trials
- Bardet-Biedl syndrome 22 0 trials
- Bardet-Biedl syndrome 3 0 trials
- Bardet-Biedl syndrome 4 0 trials
- Bardet-Biedl syndrome 5 0 trials
- Bardet-Biedl syndrome 6 0 trials
- Bardet-Biedl syndrome 7 0 trials
- Bardet-Biedl syndrome 8 0 trials
- Bardet-Biedl syndrome 9 0 trials
- Bardet-biedl syndrome 21 0 trials
-
Nephronophthisis 1 4 trials
-
Joubert syndrome 2 trials
39 sub-types
- Joubert syndrome 1 0 trials
- Joubert syndrome 10 0 trials
- Joubert syndrome 11 0 trials
- Joubert syndrome 13 0 trials
- Joubert syndrome 14 0 trials
- Joubert syndrome 15 0 trials
- Joubert syndrome 16 0 trials
- Joubert syndrome 17 0 trials Sub-types →
- Joubert syndrome 18 0 trials
- Joubert syndrome 19 0 trials
- Joubert syndrome 2 0 trials
- Joubert syndrome 20 0 trials
- Joubert syndrome 21 0 trials
- Joubert syndrome 22 0 trials
- Joubert syndrome 23 0 trials
- Joubert syndrome 24 0 trials
- Joubert syndrome 25 0 trials
- Joubert syndrome 26 0 trials
- Joubert syndrome 27 0 trials
- Joubert syndrome 28 0 trials
- Joubert syndrome 29 0 trials
- Joubert syndrome 3 0 trials
- Joubert syndrome 30 0 trials
- Joubert syndrome 31 0 trials
- Joubert syndrome 32 0 trials
- Joubert syndrome 33 0 trials
- Joubert syndrome 34 0 trials
- Joubert syndrome 35 0 trials
- Joubert syndrome 36 0 trials
- Joubert syndrome 37 0 trials
- Joubert syndrome 38 0 trials
- Joubert syndrome 39 0 trials
- Joubert syndrome 40 0 trials
- Joubert syndrome 5 0 trials
- Joubert syndrome 6 0 trials
- Joubert syndrome 7 0 trials
- Joubert syndrome 8 0 trials
- Joubert syndrome 9 0 trials
- Joubert syndrome with renal defect 0 trials
-
Jeune syndrome 1 trial · 2 incl. sub-types
24 sub-types
- Ellis-van Creveld syndrome 1 trial Sub-types →
- Beemer-Langer syndrome 0 trials
- Jeune syndrome - GRK2-related 0 trials
- Asphyxiating thoracic dystrophy 1 0 trials
- Asphyxiating thoracic dystrophy 2 0 trials
- Asphyxiating thoracic dystrophy 3 0 trials
- Asphyxiating thoracic dystrophy 4 0 trials
- Asphyxiating thoracic dystrophy 5 0 trials
- Short-rib thoracic dysplasia 10 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 11 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 13 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 14 with polydactyly 0 trials
- Short-rib thoracic dysplasia 15 with polydactyly 0 trials
- Short-rib thoracic dysplasia 16 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 17 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 18 with polydactyly 0 trials
- Short-rib thoracic dysplasia 19 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 20 with polydactyly 0 trials
- Short-rib thoracic dysplasia 21 without polydactyly 0 trials
- Short-rib thoracic dysplasia 22 without polydactyly 0 trials
- Short-rib thoracic dysplasia 6 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 7 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 8 with or without polydactyly 0 trials
- Short-rib thoracic dysplasia 9 with or without polydactyly 0 trials
-
Senior-Loken syndrome 1 trial · 2 incl. sub-types
9 sub-types
- Senior-Loken syndrome 1 1 trial
- Senior-Loken syndrome 4 0 trials
- Senior-Loken syndrome 5 0 trials
- Senior-Loken syndrome 6 0 trials
- Senior-Loken syndrome 7 0 trials
- Senior-Loken syndrome 8 0 trials
- Senior-Loken syndrome 9 0 trials
- Nephronophthisis 15 0 trials
- Senior-loken syndrome 3 0 trials
-
CEP290-related ciliopathy 0 trials · 2 incl. sub-types
5 sub-types
- Leber congenital amaurosis 10 2 trials
- Bardet-Biedl syndrome 14 0 trials
- Joubert syndrome 5 0 trials
- Meckel syndrome, type 4 0 trials
- Senior-Loken syndrome 6 0 trials
-
KIF7-related ciliopathy 0 trials · 2 incl. sub-types
3 sub-types
- Acrocallosal syndrome 2 trials
- Hydrolethalus syndrome 2 0 trials
- Multiple epiphyseal dysplasia, Al-Gazali type 0 trials
-
Retinal ciliopathy 0 trials · 2 incl. sub-types
9 sub-types
- Leber congenital amaurosis 10 2 trials
- Leber congenital amaurosis with early-onset deafness 0 trials
- Cone-rod dystrophy 16 0 trials
- Retinitis pigmentosa 23 0 trials
- Retinitis pigmentosa 51 0 trials
- Retinitis pigmentosa 55 0 trials
- Retinitis pigmentosa 64 0 trials
- Retinitis pigmentosa 74 0 trials
- Retinitis pigmentosa 80 0 trials
-
Alstrom syndrome 1 trial
-
BBS1-related ciliopathy 0 trials · 1 incl. sub-types
1 sub-type
- Bardet-Biedl syndrome 1 1 trial
-
MKS1-related ciliopathy 0 trials · 1 incl. sub-types
3 sub-types
- Meckel syndrome, type 1 1 trial
- Bardet-Biedl syndrome 13 0 trials
- Joubert syndrome 28 0 trials
-
Meckel syndrome 0 trials · 1 incl. sub-types
14 sub-types
- Meckel syndrome, type 1 1 trial
- Meckel syndrome 13 0 trials
- Meckel syndrome, type 10 0 trials
- Meckel syndrome, type 11 0 trials
- Meckel syndrome, type 2 0 trials
- Meckel syndrome, type 3 0 trials
- Meckel syndrome, type 4 0 trials
- Meckel syndrome, type 5 0 trials
- Meckel syndrome, type 6 0 trials
- Meckel syndrome, type 8 0 trials
- Meckel syndrome, type 9 0 trials
- NPHP3-related Meckel-like syndrome 0 trials
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
- Meckel syndrome 14 0 trials
-
OFD1-related ciliopathy 0 trials · 1 incl. sub-types
3 sub-types
- Orofaciodigital syndrome I 1 trial
- Joubert syndrome 10 0 trials
- Retinitis pigmentosa 23 0 trials
-
ARL6-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 3 0 trials
- Retinitis pigmentosa 55 0 trials
-
Alsahan-Harris syndrome 0 trials
-
BBS10-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 10 0 trials
-
BBS12-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 12 0 trials
-
BBS2-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 2 0 trials
- Retinitis pigmentosa 74 0 trials
-
BBS4-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 4 0 trials
-
BBS5-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 5 0 trials
-
BBS7-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 7 0 trials
-
BBS9-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 9 0 trials
-
CEP164-related ciliopathy 0 trials
1 sub-type
- Nephronophthisis 15 0 trials
-
CFAP418-related ciliopathy 0 trials
3 sub-types
- Bardet-biedl syndrome 21 0 trials
- Cone-rod dystrophy 16 0 trials
- Retinitis pigmentosa 64 0 trials
-
IFT140-related recessive ciliopathy 0 trials
2 sub-types
-
INTU-related skeletal ciliopathy 0 trials
2 sub-types
- Orofaciodigital syndrome 17 0 trials
- Short-rib thoracic dysplasia 20 with polydactyly 0 trials
-
LZTFL1-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 17 0 trials
-
MKKS-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 6 0 trials
- McKusick-Kaufman syndrome 0 trials
-
Marden-Walker syndrome 0 trials
-
SDCCAG8-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 16 0 trials
- Senior-Loken syndrome 7 0 trials
-
TTC8-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 8 0 trials
- Retinitis pigmentosa 51 0 trials
-
TUBB4B-related ciliopathy 0 trials
1 sub-type
-
WDPCP-related ciliopathy 0 trials
2 sub-types
-
Ciliopathy-IFT74 0 trials
2 sub-types
- Bardet-Biedl syndrome 22 0 trials
- Joubert syndrome 40 0 trials
-
Oculocerebrodental syndrome 0 trials
Most studied deeper sub-types
-
Weight loss jab shows promise for rare obesity syndrome
Disease control CompletedThis study looked at how safe and effective weekly weight loss injections (like Mounjaro) are for adults with Bardet-Biedl Syndrome (BBS), a rare genetic condition that often causes severe obesity. Researchers compared weight changes in 300 patients who took the medication versus…
Sponsor: The Queen Elizabeth Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
-
Inhaled mRNA therapy shows promise for rare lung disease
Disease control CompletedThis early-phase trial tested an inhaled mRNA therapy called RCT1100 in 14 adults with primary ciliary dyskinesia (PCD) caused by a specific genetic mutation (DNAI1). The goal was to see if the treatment could improve mucociliary clearance — the lungs' ability to clear mucus and …
Phase 1 • Sponsor: ReCode Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:25 UTC
-
Experimental mRNA inhalation therapy targets rare lung disease
Disease control CompletedThis early-phase study tests an inhaled mRNA therapy called RCT1100 in 7 adults with primary ciliary dyskinesia caused by DNAI1 gene mutations. The goal is to see if the treatment is safe and can help restore ciliary function in the lungs. It is a small, open-label trial focused …
Phase 1 • Sponsor: ReCode Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
-
NIH study aims to unlock secrets of lung mucus diseases
Knowledge-focused CompletedThis completed study looked at people with genetic conditions that affect how the lungs clear mucus, such as cystic fibrosis and primary ciliary dyskinesia. Researchers examined 87 participants, including healthy volunteers, to understand why these patients get repeated lung infe…
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:08 UTC
-
Scientists hunt for disease genes in amish and mennonite communities
Knowledge-focused CompletedThis completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
-
Rare lung disease study aims to uncover key health markers
Knowledge-focused CompletedThis completed study observed 31 adults with primary ciliary dyskinesia (PCD), a rare lung condition, along with healthy volunteers. Researchers measured lung function, mucus clearance, and lung structure using tests like spirometry and CT scans. The goal was to better understand…
Sponsor: ReCode Therapeutics • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC
-
Scientists hunt for early warning signs of kidney failure in rare genetic diseases
Knowledge-focused CompletedThis completed study collected blood and urine samples from 240 people with ciliopathies—rare genetic disorders that often lead to kidney failure. Researchers analyzed these samples to find biological markers that could predict how the disease will progress. The goal is to develo…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC
-
Study reveals hidden differences in Kids' lung diseases during exercise
Knowledge-focused CompletedThis completed study looked at 88 children with cystic fibrosis (CF) or primary ciliary dyskinesia (PCD) to compare how well they can exercise, how their muscles use oxygen, and how strong their breathing muscles are. Researchers used walking tests and muscle oxygen monitors to m…
Sponsor: Gazi University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC
-
Study aims to map respiratory attacks in rare lung disease
Knowledge-focused CompletedThis completed study followed 105 children and adults with primary ciliary dyskinesia (PCD), a rare lung condition, to track how their breathing and quality of life change during respiratory flare-ups. Researchers measured lung function, symptoms, and daily impacts to gather info…
Sponsor: University of North Carolina, Chapel Hill • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
-
150 patients tracked to map rare kidney disease's long-term damage
Knowledge-focused CompletedThis study followed 150 people with a confirmed genetic form of nephronophthisis, a rare kidney disease, to see how it progresses over the long term. Researchers tracked both kidney function and damage to other organs. The goal was to better understand the disease's natural histo…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC
-
Study reveals how lung diseases affect Kids' arm strength and balance
Knowledge-focused CompletedThis completed study looked at how well children with cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) can use their arms for exercise, how their muscles use oxygen, and their balance. Researchers compared 88 children aged 6-18 with CF, PCD, and healthy peers. The goal w…
Sponsor: Gazi University • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:50 UTC
-
Gene clues may predict lung function in rare disease
Knowledge-focused CompletedThis study looked at how well people with Primary Ciliary Dyskinesia (PCD) clear mucus from their lungs, based on which gene mutation they have. Researchers measured lung clearance in 27 participants, including healthy volunteers and PCD patients with different genetic mutations.…
Early phase 1 • Sponsor: University of North Carolina, Chapel Hill • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:24 UTC