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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Can a single eye injection restore sight in genetic blindness?
Cure OngoingThis trial tests an experimental gene therapy called OCU400 in people with retinitis pigmentosa or Leber congenital amaurosis, which are inherited conditions that cause progressive vision loss and can lead to blindness. The therapy is given as a single injection into the eye, wit…
Phase 1/2 • Sponsor: Ocugen • Aim: Cure
Last updated Aug 02, 2026 00:00 UTC
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Clean air trial hopes to ease breathing for rare lung disease patients
Symptom relief By invitation onlyThis study is testing whether using HEPA air purifiers at home can reduce respiratory symptoms and improve lung function in children and adults with Cystic Fibrosis (CF) or Primary Ciliary Dyskinesia (PCD). Participants will have two purifiers installed in their home and will und…
Sponsor: University of Cyprus • Aim: Symptom relief
Last updated Jun 27, 2026 09:05 UTC
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Sleep hormone may boost fertility in women with low egg reserve
Symptom relief OngoingThis study tests whether taking melatonin for 4 weeks before egg retrieval can improve egg quality and pregnancy rates in women with diminished ovarian reserve (low egg supply). The trial involves 64 women undergoing ICSI (a type of IVF). Half receive melatonin, half a placebo, a…
Phase 2 • Sponsor: Benha University • Aim: Symptom relief
Last updated Jun 27, 2026 08:09 UTC
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New Micro-Camera could spot early lung damage in cystic fibrosis
Knowledge-focused OngoingThis study is testing a tiny camera called micro OCT that can take detailed pictures of cells inside the lungs and nose. Researchers want to see if it works well in people with cystic fibrosis and other lung conditions. The goal is to eventually use this imaging to detect early d…
Sponsor: University of Alabama at Birmingham • Aim: Knowledge-focused
Last updated Jul 10, 2026 00:00 UTC
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Study probes Patients' minds, not their tumors
Knowledge-focused OngoingThis study looks at how older adults (65+) with cancer understand their illness and what they value in life before and after a major operation. Researchers will interview 100 patients to learn about their awareness, expectations, and decision-making. No new drug or treatment is b…
Sponsor: Tomas Bata Hospital, Czech Republic • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
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Global PCD data pool aims to unlock secrets of rare lung disease
Knowledge-focused OngoingThis study collects medical information from 3400 people with primary ciliary dyskinesia (PCD) around the world. Researchers will look at symptoms, lung function, growth, and test results to better understand how the disease affects people over time. The goal is to learn more abo…
Sponsor: University of Bern • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC
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Genetic clues to childhood obesity: study seeks answers
Knowledge-focused OngoingThis study looks at the genes of 1000 people with severe early-onset obesity to find rare genetic causes. It focuses on conditions like Bardet-Biedl syndrome. The goal is to better understand these conditions and improve how they are diagnosed. Participants provide a blood or sal…
Sponsor: Rolfs Consulting und Verwaltungs-GmbH (RCV) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC