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
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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
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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
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Nephronophthisis 1 4 trials
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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
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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
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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
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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
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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
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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
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Alstrom syndrome 1 trial
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BBS1-related ciliopathy 0 trials · 1 incl. sub-types
1 sub-type
- Bardet-Biedl syndrome 1 1 trial
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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
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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
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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
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ARL6-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 3 0 trials
- Retinitis pigmentosa 55 0 trials
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Alsahan-Harris syndrome 0 trials
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BBS10-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 10 0 trials
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BBS12-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 12 0 trials
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BBS2-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 2 0 trials
- Retinitis pigmentosa 74 0 trials
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BBS4-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 4 0 trials
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BBS5-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 5 0 trials
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BBS7-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 7 0 trials
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BBS9-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 9 0 trials
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CEP164-related ciliopathy 0 trials
1 sub-type
- Nephronophthisis 15 0 trials
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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
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IFT140-related recessive ciliopathy 0 trials
2 sub-types
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INTU-related skeletal ciliopathy 0 trials
2 sub-types
- Orofaciodigital syndrome 17 0 trials
- Short-rib thoracic dysplasia 20 with polydactyly 0 trials
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LZTFL1-related ciliopathy 0 trials
1 sub-type
- Bardet-Biedl syndrome 17 0 trials
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MKKS-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 6 0 trials
- McKusick-Kaufman syndrome 0 trials
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Marden-Walker syndrome 0 trials
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SDCCAG8-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 16 0 trials
- Senior-Loken syndrome 7 0 trials
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TTC8-related ciliopathy 0 trials
2 sub-types
- Bardet-Biedl syndrome 8 0 trials
- Retinitis pigmentosa 51 0 trials
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TUBB4B-related ciliopathy 0 trials
1 sub-type
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WDPCP-related ciliopathy 0 trials
2 sub-types
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Ciliopathy-IFT74 0 trials
2 sub-types
- Bardet-Biedl syndrome 22 0 trials
- Joubert syndrome 40 0 trials
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Oculocerebrodental syndrome 0 trials
Most studied deeper sub-types
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Remote physiotherapy for kids with lung disease: a new hope?
Disease control Not yet recruitingThis study tests whether children aged 6–12 with chronic lung infections (like bronchiectasis) can improve their exercise ability and lung clearance using online physiotherapy sessions. Over 12 weeks, 32 children will either receive remote guided breathing exercises and workouts …
Sponsor: University of Thessaly • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New CPR technique could boost survival after cardiac arrest
Disease control Not yet recruitingThis study tests a new CPR method called Bio-CPR, which synchronizes chest compressions with ventilation using a machine. Researchers will compare it to standard CPR in 408 adults who have a witnessed cardiac arrest. The goal is to see if this coordinated approach improves breath…
Sponsor: Guangdong Provincial People's Hospital • Aim: Disease control
Last updated Jun 27, 2026 08:00 UTC
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Could a simple saltwater mist make breathing easier for lung patients?
Symptom relief Not yet recruitingThis study looks at whether adding a continuous saltwater mist to warm, humidified air can make thick lung mucus easier to clear. 35 adults hospitalized with lung conditions like COPD or cystic fibrosis will receive both treatments on separate days. Researchers will measure mucus…
Sponsor: Cliniques universitaires Saint-Luc- Université Catholique de Louvain • Aim: Symptom relief
Last updated Jul 25, 2026 00:00 UTC
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Can we spot hidden muscle loss in kids with a rare lung condition?
Knowledge-focused Not yet recruitingThis study investigates how common malnutrition and sarcopenia (muscle loss) are in children and adolescents with primary ciliary dyskinesia (PCD), a rare genetic condition affecting the lungs. Researchers will measure grip strength, body composition, and nutritional risk in 15 p…
Sponsor: Izmir Democracy University • Aim: Knowledge-focused
Last updated Aug 02, 2026 00:00 UTC
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Do kids with a rare lung condition face hidden muscle loss?
Knowledge-focused Not yet recruitingThis study asks whether children and adolescents with primary ciliary dyskinesia (PCD) — a rare condition affecting the lungs — have poorer nutrition and muscle health than healthy children their age. Researchers will measure hand grip strength, jump power, and other physical and…
Sponsor: Izmir Democracy University • Aim: Knowledge-focused
Last updated Aug 02, 2026 00:00 UTC
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Could exercise be a new way to clear lungs in PCD?
Knowledge-focused Not yet recruitingThis study looks at how exercise and a saltwater mist (hypertonic saline) affect mucus clearance in people with primary ciliary dyskinesia (PCD), a rare lung condition where tiny hairs in the airways don't work properly. Researchers will measure how fast the lungs clear inhaled p…
Sponsor: University of North Carolina, Chapel Hill • Aim: Knowledge-focused
Last updated Jul 15, 2026 00:00 UTC
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New study seeks to help PCD patients navigate fertility and pregnancy
Knowledge-focused Not yet recruitingThis study works with patients and healthcare professionals to create educational resources about fertility and pregnancy for people with Primary Ciliary Dyskinesia (PCD). The goal is to develop a patient-friendly guide and a toolkit for doctors. The study will involve 30 partici…
Sponsor: University of Southampton • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:08 UTC