Multiple congenital anomalies/dysmorphic syndrome
MONDO:0019042Also known as: MCAHS
288 clinical trials for this condition and its sub-types, 1 tagged with Multiple congenital anomalies/dysmorphic syndrome itself.
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Browse by category →Sub-types of Multiple congenital anomalies/dysmorphic syndrome
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Multiple congenital anomalies/dysmorphic syndrome without intellectual disability 0 trials · 163 incl. sub-types
168 sub-types
- Fanconi anemia 29 trials · 42 incl. sub-types Sub-types →
- CHILD syndrome 37 trials
- Autosomal dominant prognathism 26 trials
- Alagille syndrome 15 trials Sub-types →
- Van der Woude syndrome 8 trials Sub-types →
- Binder syndrome 7 trials
- Matthew-Wood syndrome 5 trials
- Oculoauriculovertebral spectrum with radial defects 0 trials · 5 incl. sub-types Sub-types →
- Pelvis syndrome 5 trials
- Noonan syndrome with multiple lentigines 3 trials Sub-types →
- Lethal congenital contracture syndrome 2 3 trials
- Axenfeld-Rieger syndrome 1 trial Sub-types →
- BNAR syndrome 1 trial
- Freeman-Sheldon syndrome 1 trial Sub-types →
- Nijmegen breakage syndrome 1 trial
- Waardenburg syndrome 1 trial Sub-types →
- Arhinia, choanal atresia, and microphthalmia 1 trial
- Cherubism 1 trial Sub-types →
- Postaxial acrofacial dysostosis 1 trial
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 1 trial
- 3-M syndrome 0 trials Sub-types →
- 49,XYYYY syndrome 0 trials
- 8q22.1 microdeletion syndrome 0 trials
- Aase-Smith syndrome 0 trials
- Abruzzo-Erickson syndrome 0 trials
- Ackerman syndrome 0 trials
- Ascher syndrome 0 trials
- Barber-Say syndrome 0 trials
- Beare-Stevenson cutis gyrata syndrome 0 trials
- Beemer-Ertbruggen syndrome 0 trials
- Bencze syndrome 0 trials
- Braddock syndrome 0 trials
- CODAS syndrome 0 trials
- Charlie M syndrome 0 trials
- Cole-Carpenter syndrome 0 trials Sub-types →
- Cooper-Jabs syndrome 0 trials
- Cyprus facial-neuromusculoskeletal syndrome 0 trials
- Czeizel-Losonci syndrome 0 trials
- Dahlberg-Borer-Newcomer syndrome 0 trials
- Donohue syndrome 0 trials
- Fibulo-ulnar hypoplasia-renal anomalies syndrome 0 trials
- Fontaine progeroid syndrome 0 trials
- Fraser syndrome 0 trials Sub-types →
- Frias syndrome 0 trials
- Gordon syndrome 0 trials
- Greig cephalopolysyndactyly-contiguous gene syndrome 0 trials
- Hirschsprung disease-hearing loss-polydactyly syndrome 0 trials
- Hirschsprung disease-type D brachydactyly syndrome 0 trials
- Holt-Oram syndrome 0 trials Sub-types →
- Holzgreve-Wagner-Rehder syndrome 0 trials
- Juberg-Hayward syndrome 0 trials
- Keipert syndrome 0 trials
- LADD syndrome 0 trials Sub-types →
- Marshall syndrome 0 trials
- McKusick-Kaufman syndrome 0 trials
- Nager acrofacial dysostosis 0 trials
- Nijmegen breakage syndrome-like disorder 0 trials
- PAGOD syndrome 0 trials
- PARC syndrome 0 trials
- PHAVER syndrome 0 trials
- Richieri Costa-Pereira syndrome 0 trials
- Richieri Costa-da Silva syndrome 0 trials
- SHORT syndrome 0 trials
- Schilbach-Rott syndrome 0 trials
- Thomas syndrome 0 trials
- Townes-Brocks syndrome 0 trials Sub-types →
- Treacher-Collins syndrome 0 trials Sub-types →
- Verloove Vanhorick-Brubakk syndrome 0 trials
- Vici syndrome 0 trials
- Warsaw breakage syndrome 0 trials
- Weill-Marchesani syndrome 0 trials Sub-types →
- Absent tibia-polydactyly-arachnoid cyst syndrome 0 trials
- Acro-renal-mandibular syndrome 0 trials
- Acrocraniofacial dysostosis 0 trials
- Acrofacial dysostosis, Weyers type 0 trials
- Acrofrontofacionasal dysostosis 2 0 trials
- Acrorenal syndrome 0 trials Sub-types →
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome 0 trials
- Anonychia-microcephaly syndrome 0 trials
- Anophthalmia plus syndrome 0 trials
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 0 trials
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 0 trials
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 0 trials
- Autosomal recessive faciodigitogenital syndrome 0 trials
- Autosomal recessive multiple pterygium syndrome 0 trials Sub-types →
- Blepharocheilodontic syndrome 0 trials Sub-types →
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 0 trials
- Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
- Branchio-oto-renal syndrome 0 trials Sub-types →
- Branchiooculofacial syndrome 0 trials
- Branchiootic syndrome 0 trials Sub-types →
- Camptodactyly syndrome, Guadalajara type 1 0 trials
- Camptodactyly syndrome, Guadalajara type 2 0 trials
- Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 0 trials
- Cataract-aberrant oral frenula-growth delay syndrome 0 trials
- Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 0 trials
- Cleft lip-retinopathy syndrome 0 trials
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome 0 trials
- Cleft palate-lateral synechia syndrome 0 trials
- Congenital vertebral-cardiac-renal anomalies syndrome 0 trials Sub-types →
- Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 0 trials
- Craniofacial-deafness-hand syndrome 0 trials
- Craniolenticulosutural dysplasia 0 trials
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome 0 trials
- Deafness-craniofacial syndrome 0 trials
- Developmental malformations-deafness-dystonia syndrome 0 trials
- Diaphragmatic defect-limb deficiency-skull defect syndrome 0 trials
- Digitotalar dysmorphism 0 trials Sub-types →
- Dislocation of the hip-dysmorphism syndrome 0 trials
- Dysmorphism-pectus carinatum-joint laxity syndrome 0 trials
- Even-plus syndrome 0 trials
- External auditory canal atresia-vertical talus-hypertelorism syndrome 0 trials
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 0 trials
- Femoral-facial syndrome 0 trials
- Fetal akinesia deformation sequence 0 trials Sub-types →
- Flat face-microstomia-ear anomaly syndrome 0 trials
- Frontofacionasal dysplasia 0 trials
- Genito-palato-cardiac syndrome 0 trials
- Gingival fibromatosis-facial dysmorphism syndrome 0 trials
- Grange syndrome 0 trials
- Hand-foot-genital syndrome 0 trials
- Heart defect - tongue hamartoma - polysyndactyly syndrome 0 trials
- Heart defects-limb shortening syndrome 0 trials
- Heart-hand syndrome type 2 0 trials
- Hydrocephaly-tall stature-joint laxity syndrome 0 trials
- Hypertrichosis-acromegaloid facial appearance syndrome 0 trials
- Ichthyosis-oral and digital anomalies syndrome 0 trials
- Lethal congenital contracture syndrome 1 0 trials
- Lethal congenital contracture syndrome 3 0 trials
- Macrosomia-microphthalmia-cleft palate syndrome 0 trials
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome 0 trials
- Mandibuloacral dysplasia 0 trials Sub-types →
- Median nodule of the upper lip 0 trials
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome 0 trials
- Microcephaly-albinism-digital anomalies syndrome 0 trials
- Microcephaly-cardiac defect-lung malsegmentation syndrome 0 trials
- Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 0 trials
- Mullerian duct anomalies-limb anomalies syndrome 0 trials
- Multinodular goiter-cystic kidney-polydactyly syndrome 0 trials
- Nasopalpebral lipoma-coloboma syndrome 0 trials
- Nephrosis-deafness-urinary tract-digital malformations syndrome 0 trials
- Night blindness-skeletal anomalies-dysmorphism syndrome 0 trials
- Otoonychoperoneal syndrome 0 trials
- Otospondylomegaepiphyseal dysplasia, autosomal dominant 0 trials
- Pectus excavatum-macrocephaly-dysplastic nails syndrome 0 trials
- Pentalogy of Cantrell 0 trials
- Polysyndactyly-cardiac malformation syndrome 0 trials
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 0 trials
- Progressive non-infectious anterior vertebral fusion 0 trials
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 0 trials
- Rapadilino syndrome 0 trials
- Renal-genital-middle ear anomalies 0 trials
- Scalp-ear-nipple syndrome 0 trials
- Short stature-craniofacial anomalies-genital hypoplasia syndrome 0 trials
- Short stature-valvular heart disease-characteristic facies syndrome 0 trials
- Short tarsus-absence of lower eyelashes syndrome 0 trials
- Split hand-foot malformation 1 with sensorineural hearing loss 0 trials
- Split-foot malformation-mesoaxial polydactyly syndrome 0 trials
- Structural heart defects and renal anomalies syndrome 0 trials
- Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
- Tetraamelia-multiple malformations syndrome 0 trials Sub-types →
- Thymic-renal-anal-lung dysplasia 0 trials
- Trigonocephaly-bifid nose-acral anomalies syndrome 0 trials
- Van den Ende-Gupta syndrome 0 trials
- Velo-facial-skeletal syndrome 0 trials
- Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome 0 trials
- Von Voss-Cherstvoy syndrome 0 trials
- White forelock with malformations 0 trials
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Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 0 trials · 90 incl. sub-types
69 sub-types
- Prader-Willi syndrome 31 trials Sub-types →
- Noonan syndrome 21 trials · 24 incl. sub-types Sub-types →
- 22q11.2 deletion syndrome 7 trials · 13 incl. sub-types Sub-types →
- Silver-Russell syndrome 7 trials Sub-types →
- CHARGE syndrome 4 trials Sub-types →
- Anophthalmia/microphthalmia-esophageal atresia syndrome 4 trials
- Antley-Bixler syndrome 2 trials Sub-types →
- Mobius syndrome 2 trials Sub-types →
- PHACE syndrome 2 trials
- Pallister-Hall syndrome 0 trials · 2 incl. sub-types Sub-types →
- Meier-Gorlin syndrome 1 trial Sub-types →
- Sotos syndrome 1 trial
- Occipital horn syndrome 1 trial
- Split hand-foot malformation 3 1 trial
- 4q25 proximal deletion syndrome 0 trials
- Bosley-Salih-Alorainy syndrome 0 trials
- Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
- Carpenter syndrome 0 trials Sub-types →
- Char syndrome 0 trials
- Donnai-Barrow syndrome 0 trials
- Goodman syndrome 0 trials
- Hennekam-Beemer syndrome 0 trials
- Hypoglossia-hypodactyly syndrome 0 trials
- Kallmann syndrome-heart disease syndrome 0 trials
- King-Denborough syndrome 0 trials
- Malan overgrowth syndrome 0 trials
- Marshall-Smith syndrome 0 trials
- Mietens syndrome 0 trials
- Noonan syndrome-like disorder with loose anagen hair 0 trials Sub-types →
- Potocki-Shaffer syndrome 0 trials
- Prader-Willi-like syndrome 0 trials Sub-types →
- Robinow syndrome 0 trials Sub-types →
- SHORT syndrome 0 trials
- Schinzel-Giedion syndrome 0 trials
- TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
- Toriello-Carey syndrome 0 trials
- Weiss-Kruszka syndrome 0 trials
- Ablepharon macrostomia syndrome 0 trials
- Acromegaloid facial appearance syndrome 0 trials
- Arachnodactyly-intellectual disability-dysmorphism syndrome 0 trials
- Autosomal dominant popliteal pterygium syndrome 0 trials
- Autosomal dominant primary microcephaly 0 trials Sub-types →
- Branchiogenic deafness syndrome 0 trials
- Campomelia, Cumming type 0 trials
- Campomelic dysplasia 0 trials
- Cerebrocostomandibular syndrome 0 trials
- Chromosome 1p32-p31 deletion syndrome 0 trials
- Combined immunodeficiency with faciooculoskeletal anomalies 0 trials
- Contractures-developmental delay-Pierre Robin syndrome 0 trials
- Dysmorphism-conductive hearing loss-heart defect syndrome 0 trials
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 0 trials
- Hypertrichotic osteochondrodysplasia Cantu type 0 trials
- Hypomandibular faciocranial dysostosis 0 trials
- Isotretinoin-like syndrome 0 trials Sub-types →
- Lethal faciocardiomelic dysplasia 0 trials
- Microgastria-limb reduction defect syndrome 0 trials
- Microphthalmia with limb anomalies 0 trials
- Mosaic SMO syndrome 0 trials Sub-types →
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 0 trials
- Oculodentodigital dysplasia 0 trials Sub-types →
- Oculotrichoanal syndrome 0 trials
- Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 0 trials
- Polyvalvular heart disease syndrome 0 trials Sub-types →
- Restrictive dermopathy 1 0 trials
- Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 0 trials
- Short stature-heart defect-craniofacial anomalies syndrome 0 trials
- Short stature-wormian bones-dextrocardia syndrome 0 trials
- Symptomatic form of Coffin-Lowry syndrome in female carriers 0 trials
- Ulnar-mammary syndrome 0 trials
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Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 1 trial · 59 incl. sub-types
338 sub-types
- Costello syndrome 7 trials
- Cardiofaciocutaneous syndrome 7 trials Sub-types →
- Smith-Lemli-Opitz syndrome 6 trials
- Creatine transporter deficiency 6 trials
- Cornelia de Lange syndrome 4 trials · 5 incl. sub-types Sub-types →
- Smith-Magenis syndrome 5 trials
- Severe intellectual disability-progressive spastic diplegia syndrome 4 trials
- Pitt-Hopkins or Pitt-Hopkins-like syndrome 0 trials · 3 incl. sub-types Sub-types →
- Rubinstein-Taybi syndrome 3 trials Sub-types →
- Syndromic X-linked intellectual disability Lubs type 3 trials Sub-types →
- KBG syndrome 2 trials
- Kabuki syndrome 2 trials Sub-types →
- Mowat-Wilson syndrome 2 trials Sub-types →
- Acrocallosal syndrome 2 trials
- Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2 trials
- AICA-ribosiduria 1 trial
- Bannayan-Riley-Ruvalcaba syndrome 1 trial
- Bohring-Opitz syndrome 1 trial
- Coffin-Siris syndrome 1 trial Sub-types →
- Cohen syndrome 1 trial
- Fryns syndrome 1 trial
- Koolen-de Vries syndrome 1 trial Sub-types →
- MMEP syndrome 1 trial
- Schuurs-Hoeijmakers syndrome 1 trial
- Shprintzen-Goldberg syndrome 1 trial
- Autism spectrum disorder due to AUTS2 deficiency 1 trial
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
- Chromosome 15q13.3 microdeletion syndrome 1 trial
- Chromosome 15q24 deletion syndrome 1 trial
- Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 trial
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 1 trial
- Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 0 trials · 1 incl. sub-types Sub-types →
- Pseudoaminopterin syndrome 1 trial
- Syndromic X-linked intellectual disability 5 1 trial
- Trichorhinophalangeal syndrome type II 1 trial
- 10p13-p14 deletion syndrome 0 trials
- 11p15.4 microduplication syndrome 0 trials
- 11q22.2q22.3 microdeletion syndrome 0 trials
- 13q12.3 microdeletion syndrome 0 trials
- 14q24.1q24.3 microdeletion syndrome 0 trials
- 15q overgrowth syndrome 0 trials Sub-types →
- 16p12.1p12.3 triplication syndrome 0 trials
- 19p13.3 microduplication syndrome 0 trials
- 1p35.2 microdeletion syndrome 0 trials
- 20p13 microdeletion syndrome 0 trials
- 20q11.2 microdeletion syndrome 0 trials
- 20q11.2 microduplication syndrome 0 trials
- 2p13.2 microdeletion syndrome 0 trials
- 2q13 microdeletion syndrome 0 trials
- 3MC syndrome 0 trials Sub-types →
- 3q26q28 deletion syndrome 0 trials
- 3q27.3 microdeletion syndrome 0 trials
- 5q14.3 microdeletion syndrome 0 trials
- 7p22.1 microduplication syndrome 0 trials
- 8q24.3 microdeletion syndrome 0 trials
- 9q31.1q31.3 microdeletion syndrome 0 trials
- 9q33.3q34.11 microdeletion syndrome 0 trials
- ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 trials
- Ayme-Gripp syndrome 0 trials
- Baraitser-Winter cerebrofrontofacial syndrome 0 trials Sub-types →
- Biemond syndrome type 2 0 trials
- Bonnemann-Meinecke-Reich syndrome 0 trials
- Bowen-Conradi syndrome 0 trials
- C syndrome 0 trials
- CHIME syndrome 0 trials
- CTCF-related neurodevelopmental disorder 0 trials
- Catel-Manzke syndrome 0 trials
- DYRK1A-related intellectual disability syndrome 0 trials Sub-types →
- DeSanto-Shinawi syndrome 0 trials Sub-types →
- Dubowitz syndrome 0 trials
- Elsahy-Waters syndrome 0 trials
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 0 trials
- Filippi syndrome 0 trials
- Fine-Lubinsky syndrome 0 trials
- Floating-Harbor syndrome 0 trials
- GAPO syndrome 0 trials
- Gabriele de Vries syndrome 0 trials
- Goldberg-Shprintzen syndrome 0 trials
- Hall-Riggs syndrome 0 trials
- Harrod syndrome 0 trials
- Hartsfield-Bixler-Demyer syndrome 0 trials
- Hennekam syndrome 0 trials Sub-types →
- Hernández-Aguirre Negrete syndrome 0 trials
- Houge-Janssens syndrome 1 0 trials
- Houge-Janssens syndrome 2 0 trials
- Jawad syndrome 0 trials
- Johanson-Blizzard syndrome 0 trials
- Johnson neuroectodermal syndrome 0 trials
- KAT6B-related multiple congenital anomalies syndrome 0 trials
- KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome 0 trials
- Kapur-Toriello syndrome 0 trials
- Keutel syndrome 0 trials
- Kleefstra syndrome 0 trials Sub-types →
- Lambert syndrome 0 trials
- Laurence-Moon syndrome 0 trials
- Lenz-Majewski hyperostotic dwarfism 0 trials
- Lowry-MacLean syndrome 0 trials
- Marden-Walker syndrome 0 trials
- Martsolf syndrome 1 0 trials
- McDonough syndrome 0 trials
- Myhre syndrome 0 trials
- N syndrome 0 trials
- Neu-Laxova syndrome 0 trials Sub-types →
- Oliver syndrome 0 trials
- Opitz G/BBB syndrome 0 trials Sub-types →
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 trials
- PRC-2 complex-related overgrowth spectrum 0 trials
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 trials Sub-types →
- Peters plus syndrome 0 trials
- Pfeiffer-Palm-Teller syndrome 0 trials
- Pierpont syndrome 0 trials
- Pilarowski-Bjornsson syndrome 0 trials
- Ramos-Arroyo syndrome 0 trials
- Ritscher-Schinzel syndrome 0 trials Sub-types →
- SIN3A-related intellectual disability syndrome 0 trials Sub-types →
- SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome 0 trials Sub-types →
- SLC39A8-CDG 0 trials
- SSR4-congenital disorder of glycosylation 0 trials
- Say-Barber-Miller syndrome 0 trials
- Skraban-Deardorff syndrome 0 trials
- Stimmler syndrome 0 trials
- Stromme syndrome 0 trials
- TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 trials
- Tatton-Brown-Rahman overgrowth syndrome 0 trials
- Ulbright-Hodes syndrome 0 trials
- Warburg micro syndrome 0 trials Sub-types →
- Weaver syndrome 0 trials
- Weaver-Williams syndrome 0 trials
- Wiedemann-Rautenstrauch syndrome 0 trials
- Wiedemann-Steiner syndrome 0 trials
- Wolf-Hirschhorn syndrome 0 trials
- X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 0 trials
- X-linked intellectual disability with marfanoid habitus 0 trials
- X-linked intellectual disability, Cabezas type 0 trials
- X-linked intellectual disability, Pai type 0 trials
- X-linked intellectual disability, Stevenson type 0 trials
- X-linked intellectual disability, Stoll type 0 trials
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 0 trials
- X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 0 trials
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 0 trials
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 0 trials
- X-linked intellectual disability-plagiocephaly syndrome 0 trials
- X-linked intellectual disability-short stature-overweight syndrome 0 trials
- XYLT1-congenital disorder of glycosylation 0 trials
- Xp22.13p22.2 duplication syndrome 0 trials
- ZTTK syndrome 0 trials
- Zechi-Ceide syndrome 0 trials
- Acrocardiofacial syndrome 0 trials
- Acrofacial dysostosis Rodriguez type 0 trials
- Acrofacial dysostosis, Catania type 0 trials
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 0 trials
- Agnathia-otocephaly complex 0 trials
- Anencephaly 1 0 trials
- Aniridia-renal agenesis-psychomotor retardation syndrome 0 trials
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 0 trials
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 0 trials
- Arachnodactyly-abnormal ossification-intellectual disability syndrome 0 trials
- Ataxia-photosensitivity-short stature syndrome 0 trials
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 trials
- Autosomal recessive spinocerebellar ataxia 20 0 trials
- Bird headed-dwarfism, Montreal type 0 trials
- Blepharonasofacial malformation syndrome 0 trials
- Blepharophimosis - intellectual disability syndrome 0 trials Sub-types →
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome 0 trials
- Brachydactyly-nystagmus-cerebellar ataxia syndrome 0 trials
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome 0 trials
- Camptodactyly syndrome, Guadalajara type 3 0 trials
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia 0 trials
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 trials
- Cardiocranial syndrome, Pfeiffer type 0 trials
- Cataract-deafness-hypogonadism syndrome 0 trials
- Cataract-intellectual disability-anal atresia-urinary defects syndrome 0 trials
- Caudal appendage-deafness syndrome 0 trials
- Cerebellar-facial-dental syndrome 0 trials
- Cerebrooculonasal syndrome 0 trials
- Chromosome 16q22 deletion syndrome 0 trials
- Chromosome 17p13.3 duplication syndrome 0 trials
- Chromosome 17q21.31 duplication syndrome 0 trials
- Chromosome 19p13.13 deletion syndrome 0 trials
- Chromosome 19q13.11 deletion syndrome 0 trials Sub-types →
- Chromosome 5p13 duplication syndrome 0 trials
- Chromosome 5q12 deletion syndrome 0 trials
- Chromosome 6pter-p24 deletion syndrome 0 trials
- Chromosome 8q21.11 deletion syndrome 0 trials
- Chromosome Xp11.23-p11.22 duplication syndrome 0 trials
- Cleft palate-congenital heart defect-intellectual disability syndrome 0 trials Sub-types →
- Cleft palate-short stature-vertebral anomalies syndrome 0 trials
- Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 trials
- Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 0 trials
- Complex cortical dysplasia with other brain malformations 7 0 trials
- Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 trials
- Congenital cataracts-facial dysmorphism-neuropathy syndrome 0 trials
- Congenital heart defect-round face-developmental delay syndrome 0 trials
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
- Cono-spondylar dysplasia 0 trials
- Corpus callosum agenesis-macrocephaly-hypertelorism syndrome 0 trials
- Cortical blindness-intellectual disability-polydactyly syndrome 0 trials
- Craniodigital syndrome-intellectual disability syndrome 0 trials
- Craniofaciofrontodigital syndrome 0 trials
- Cryptorchidism-arachnodactyly-intellectual disability syndrome 0 trials
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 0 trials
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 0 trials
- Developmental and epileptic encephalopathy, 18 0 trials
- Developmental and epileptic encephalopathy, 23 0 trials
- Developmental and epileptic encephalopathy, 73 0 trials
- Distal 17p13.1 microdeletion syndrome 0 trials
- Dysmorphism-short stature-deafness-disorder of sex development syndrome 0 trials
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 trials
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 trials
- Epilepsy-microcephaly-skeletal dysplasia syndrome 0 trials
- Epilepsy-telangiectasia syndrome 0 trials
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 0 trials
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome 0 trials
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 0 trials
- Facial dysmorphism-shawl scrotum-joint laxity syndrome 0 trials
- Faciocardiorenal syndrome 0 trials
- Fallot complex-intellectual disability-growth delay syndrome 0 trials
- Fountain syndrome 0 trials
- Genitopatellar syndrome 0 trials
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 trials
- Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
- Hirsutism-skeletal dysplasia-intellectual disability syndrome 0 trials
- Holoprosencephaly 0 trials Sub-types →
- Holoprosencephaly-postaxial polydactyly syndrome 0 trials
- Holoprosencephaly-radial heart renal anomalies syndrome 0 trials
- Hypertelorism, microtia, facial clefting syndrome 0 trials
- Hypomyelinating leukodystrophy 10 0 trials
- Hypoparathyroidism-retardation-dysmorphism syndrome 0 trials
- Hypospadias-intellectual disability, Goldblatt type syndrome 0 trials
- Hypotonia, ataxia, and delayed development syndrome 0 trials
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 0 trials Sub-types →
- Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 trials
- Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 trials
- Intellectual disability, Buenos-Aires type 0 trials
- Intellectual disability, Wolff type 0 trials
- Intellectual disability, X-linked, syndromic 33 0 trials
- Intellectual disability, autosomal dominant 47 0 trials
- Intellectual disability, autosomal dominant 48 0 trials
- Intellectual disability-balding-patella luxation-acromicria syndrome 0 trials
- Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 0 trials
- Intellectual disability-early-onset cataract-microcephaly syndrome 0 trials
- Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome 0 trials
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 trials
- Intellectual disability-facial dysmorphism-hand anomalies syndrome 0 trials
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 0 trials
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 0 trials
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 0 trials
- Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 0 trials
- Intellectual disability-polydactyly-uncombable hair syndrome 0 trials
- Intellectual disability-seizures-macrocephaly-obesity syndrome 0 trials
- Intellectual disability-short stature-hypertelorism syndrome 0 trials
- Intellectual disability-sparse hair-brachydactyly syndrome 0 trials
- Intellectual disability-spasticity-ectrodactyly syndrome 0 trials
- Lethal multiple pterygium syndrome 0 trials Sub-types →
- Lethal omphalocele-cleft palate syndrome 0 trials
- Macrocephaly-developmental delay syndrome 0 trials
- Macrocephaly-short stature-paraplegia syndrome 0 trials
- Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 trials
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 0 trials
- Mandibulofacial dysostosis-microcephaly syndrome 0 trials
- Marfanoid habitus-autosomal recessive intellectual disability syndrome 0 trials
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 0 trials
- Mesomelic dysplasia-digital anomalies-intellectual disability syndrome 0 trials
- Microbrachycephaly-ptosis-cleft lip syndrome 0 trials
- Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
- Microcephaly-cardiomyopathy syndrome 0 trials
- Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 0 trials
- Microcephaly-cervical spine fusion anomalies syndrome 0 trials
- Microcephaly-cleft palate syndrome 0 trials
- Microcephaly-deafness-intellectual disability syndrome 0 trials
- Microcephaly-glomerulonephritis-marfanoid habitus syndrome 0 trials
- Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 0 trials
- Microcephaly-microcornea syndrome, Seemanova type 0 trials
- Microcephaly-seizures-intellectual disability-heart disease syndrome 0 trials
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome 0 trials
- Microcephaly-thin corpus callosum-intellectual disability syndrome 0 trials
- Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 trials
- Microtriplication 11q24.1 0 trials
- Mucopolysaccharidosis-plus syndrome 0 trials
- Multiple congenital anomalies-hypotonia-seizures syndrome 0 trials Sub-types →
- Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 0 trials
- Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 0 trials
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 0 trials Sub-types →
- Neuroectodermal-endocrine syndrome 0 trials
- Neurofaciodigitorenal syndrome 0 trials
- Oculo-palato-cerebral syndrome 0 trials
- Oculocerebrodental syndrome 0 trials
- Oculocerebrofacial syndrome, Kaufman type 0 trials
- Omphalocele syndrome, Shprintzen-Goldberg type 0 trials
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 0 trials
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 0 trials
- Orofaciodigital syndrome type 14 0 trials
- Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 0 trials
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 0 trials
- Pancreatic agenesis-holoprosencephaly syndrome 0 trials
- Preaxial polydactyly-colobomata-intellectual disability syndrome 0 trials
- Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 0 trials
- Prominent glabella-microcephaly-hypogenitalism syndrome 0 trials
- Pseudoprogeria syndrome 0 trials
- Pterygium colli-intellectual disability-digital anomalies syndrome 0 trials
- Ptosis-syndactyly-learning difficulties syndrome 0 trials
- Radioulnar synostosis-developmental delay-hypotonia syndrome 0 trials
- Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome 0 trials
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 0 trials
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
- Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 0 trials
- Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 0 trials
- Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 trials
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 0 trials
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 0 trials
- Short stature-brachydactyly-obesity-global developmental delay syndrome 0 trials
- Short stature-webbed neck-heart disease syndrome 0 trials
- Short ulna-dysmorphism-hypotonia-intellectual disability syndrome 0 trials
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome 0 trials
- Spastic paraplegia-severe developmental delay-epilepsy syndrome 0 trials
- Spondylocostal dysostosis-hypospadias-intellectual disability syndrome 0 trials
- Syndromic X-linked intellectual disability 34 0 trials
- Syndromic X-linked intellectual disability 7 0 trials
- Syndromic X-linked intellectual disability Abidi type 0 trials
- Syndromic X-linked intellectual disability Claes-Jensen type 0 trials
- Syndromic X-linked intellectual disability Shashi type 0 trials
- Syndromic X-linked intellectual disability Siderius type 0 trials
- Syndromic multisystem autoimmune disease due to ITCH deficiency 0 trials
- Tall stature-intellectual disability-renal anomalies syndrome 0 trials
- Telecanthus-hypertelorism-strabismus-pes cavus syndrome 0 trials
- Temtamy syndrome 0 trials
- Transketolase deficiency 0 trials
- Upper limb defect-eye and ear abnormalities syndrome 0 trials
- Urban-Rogers-Meyer syndrome 0 trials
- Uveal coloboma-cleft lip and palate-intellectual disability 0 trials
- Van Maldergem syndrome 0 trials Sub-types →
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 0 trials
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Multiple congenital anomalies due to 14q32.2 imprinting defect 0 trials · 2 incl. sub-types
2 sub-types
Most studied deeper sub-types
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Which drug first? trial tests sequence of carboplatin and olaparib in aggressive prostate cancer
Disease control Recruiting nowResearchers are comparing two sequences of treatment for metastatic castration-resistant prostate cancer that carries certain DNA repair gene mutations. Participants receive either carboplatin first and olaparib second, or olaparib first and carboplatin second, switching after th…
Phase 2 • Sponsor: VA Office of Research and Development • Aim: Disease control
Last updated Sep 19, 2026 00:00 UTC
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Could a cancer drug help kids with rare brain disorder?
Disease control Recruiting nowThis study is testing whether a drug called vorinostat is safe and helpful for people with Pitt Hopkins syndrome, a rare genetic condition that affects development. Five participants will each receive a placebo and two different doses of the drug in a special 'N-of-1' design, mea…
Phase 1 • Sponsor: Unravel Biosciences, Inc. • Aim: Disease control
Last updated Sep 19, 2026 00:00 UTC
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Nanoparticles boost radiation against tough brain tumors
Disease control Recruiting nowThis study tests whether adding AGuIX gadolinium-based nanoparticles to standard brain radiation can better control brain metastases that are at high risk of coming back. About 134 adults with certain cancers (like melanoma, lung, breast, or colorectal) that have spread to the br…
Phase 2 • Sponsor: Brigham and Women's Hospital • Aim: Disease control
Last updated Sep 11, 2026 00:00 UTC
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Weekly shot could replace daily growth hormone for kids
Disease control Recruiting nowThis phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…
Phase 3 • Sponsor: Ascendis Pharma A/S • Aim: Disease control
Last updated Sep 04, 2026 00:00 UTC
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BioNTech launches trial of BNT326 for advanced cancers
Disease control Recruiting nowThis study tests a new drug called BNT326, given alone or with other cancer immunotherapies, in about 980 adults with advanced solid tumors that have spread or come back after prior treatment. The goal is to find the best dose and see if it is safe and effective. It is an early-s…
Phase 1/2 • Sponsor: BioNTech SE • Aim: Disease control
Last updated Sep 04, 2026 00:00 UTC
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New drug DSB2455 targets Hard-to-Treat cancers in early trial
Disease control Recruiting nowThis early-phase study tests a new drug called DSB2455 in adults with advanced cancers (breast, ovarian, prostate, pancreatic, or brain metastases) that have a specific DNA repair problem. The main goals are to check safety and see if the drug shrinks tumors. About 180 participan…
Phase 1 • Sponsor: Duke Street Bio Ltd • Aim: Disease control
Last updated Sep 04, 2026 00:00 UTC
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Can a daily pill help kids with rare liver disease avoid transplant?
Disease control Recruiting nowThis study follows 30 people with Alagille syndrome who are taking odevixibat (Bylvay) in their daily lives. The goal is to see if the drug helps them avoid serious surgeries like liver transplant or bile duct repair over the long term. Researchers will also track weight, height,…
Sponsor: Ipsen • Aim: Disease control
Last updated Sep 02, 2026 00:00 UTC
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New study tracks Real-World safety of odevixibat in rare liver disease
Disease control Recruiting nowThis study will follow 30 people with Alagille syndrome who are taking odevixibat in their daily lives. The goal is to see how safe the drug is over the long term by tracking any side effects. It is not testing if the drug works, but rather monitoring its real-world safety.
Sponsor: Ipsen • Aim: Disease control
Last updated Sep 02, 2026 00:00 UTC
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New drug aims to boost growth in kids with noonan syndrome
Disease control Recruiting nowThis study tests vosoritide, a protein that stimulates bone growth, in 30 children with Noonan syndrome who are not growing well despite growth hormone treatment. The goal is to see if vosoritide can safely increase their growth rate over six months. Participants will receive one…
Phase 2 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Aug 26, 2026 00:00 UTC
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New drug FOG-001 takes on Hard-to-Treat cancers
Disease control Recruiting nowThis early-phase trial is testing a new drug, FOG-001, in about 595 people with advanced or metastatic solid tumors, including colorectal, prostate, and liver cancers. The drug is given alone or with other cancer treatments to see if it is safe and shrinks tumors. The study is cu…
Phase 1/2 • Sponsor: Parabilis Medicines, Inc. • Aim: Disease control
Last updated Aug 19, 2026 00:00 UTC
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Could a common ADHD drug tame attention issues in rare KBG syndrome?
Disease control Recruiting nowThis trial tests whether methylphenidate, a standard ADHD medication, can reduce attention and hyperactivity problems in children and adolescents with KBG syndrome, a rare genetic condition often accompanied by ADHD-like symptoms. Participants receive alternating blocks of the dr…
Phase 4 • Sponsor: Radboud University Medical Center • Aim: Disease control
Last updated Aug 13, 2026 00:00 UTC
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New drug aims to boost immune cells in rare blood disorder
Disease control Recruiting nowThis Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…
Phase 3 • Sponsor: X4 Pharmaceuticals • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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New combo therapy aims to tackle tough lung cancer
Disease control Recruiting nowThis study tests two experimental drugs, BNT326 and BNT327, in people with advanced non-small cell lung cancer that has spread or come back. The trial has three parts to find the best dose and check safety, and will compare the combination to standard treatments like pembrolizuma…
Phase 1/2 • Sponsor: BioNTech SE • Aim: Disease control
Last updated Aug 07, 2026 00:00 UTC
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Gene therapy breakthrough? first human trial launches for rare brain disorder
Disease control Recruiting nowThis study tests a new gene therapy called MZ-1866 for children and adults with Pitt Hopkins Syndrome, a rare genetic condition that affects development and breathing. The therapy is given as a single injection into the fluid around the brain. The main goal is to see if it is saf…
Phase 1/2 • Sponsor: Mahzi Therapeutics • Aim: Disease control
Last updated Aug 02, 2026 00:00 UTC
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New lung cancer vaccine trial launches for advanced patients
Disease control Recruiting nowThis early-stage trial is testing a new cancer vaccine called BNT116, alone or with other drugs, in people with advanced non-small cell lung cancer. The main goal is to find a safe dose and check for side effects. About 320 participants will be enrolled across several groups, inc…
Phase 1 • Sponsor: BioNTech SE • Aim: Disease control
Last updated Jul 24, 2026 00:00 UTC
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3D printed jaw brace could fix Children's bite without surgery
Disease control Recruiting nowThis trial tests a new 3D printed dental appliance designed to correct an underdeveloped upper jaw in children aged 8-13 with class III malocclusion (where the lower jaw sticks out). The device, called a reverse twin block, is worn in the mouth to gently guide jaw growth over six…
Sponsor: University of Baghdad • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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Gut bacteria boost may curb obesity in rare genetic disorder
Disease control Recruiting nowThis study tests whether probiotics and prebiotics can safely help control appetite and weight gain in 60 children with Prader-Willi syndrome, a rare genetic condition that causes severe obesity. Researchers will measure changes in body mass index, body fat, and gut bacteria over…
Sponsor: Children's Hospital of Fudan University • Aim: Disease control
Last updated Jul 08, 2026 00:00 UTC
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Sound waves instead of scalpel: new study targets brain tumors in kids
Disease control Recruiting nowThis study is testing a device called ExAblate 4000 that uses focused ultrasound waves to treat non-cancerous brain tumors in children and young adults. The goal is to see if the treatment is safe and can shrink tumors without open surgery. About 20 participants will be enrolled,…
Sponsor: InSightec • Aim: Disease control
Last updated Jul 01, 2026 00:00 UTC
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New drug livmarli tracked for Long-Term safety in kids with rare liver disorders
Disease control Recruiting nowThis study follows 230 children with Alagille syndrome or progressive familial intrahepatic cholestasis (PFIC) who are taking Livmarli, a drug to reduce bile buildup and itching. Researchers will monitor side effects, liver function, and long-term outcomes like need for transplan…
Phase 4 • Sponsor: Mirum Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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New hope for Hard-to-Treat cancers: first human trial launches
Disease control Recruiting nowThis early-stage study tests a new drug called azirkitug, alone or with other cancer medicines, in people with advanced solid tumors like lung, head/neck, and pancreatic cancers. The goal is to find safe doses and check side effects. About 694 adults will take part worldwide, rec…
Phase 1 • Sponsor: AbbVie • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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Custom 3D-Printed titanium implants could rebuild faces after injury or surgery
Disease control Recruiting nowThis study tests whether custom 3D-printed titanium implants can safely and effectively rebuild facial bones in 30 adults with defects from injury, cancer surgery, or birth conditions. Each implant is designed from CT scans to match the patient's unique anatomy. Researchers will …
Sponsor: Tishreen University • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New hope for rare cancer: targeted drug afatinib tested in fanconi anemia patients
Disease control Recruiting nowThis study tests a drug called afatinib in 25 adults with Fanconi anemia who have advanced head and neck cancer that cannot be removed by surgery. Afatinib is a pill that blocks a protein helping cancer grow. The goal is to see if it can shrink tumors and control the disease. Res…
Phase 1/2 • Sponsor: Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
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New drug trial hopes to tame rare Syndrome's relentless hunger
Disease control Recruiting nowThis early-stage trial tests an experimental drug called CSTI-500 in 12 people aged 13 to 50 with Prader-Willi syndrome, a genetic condition that causes constant hunger and behavioral issues. The study aims to see if the drug is safe and can reduce excessive eating behaviors. Par…
Phase 2 • Sponsor: ConSynance Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
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Stem cell transplant offers new hope for rare immune diseases
Disease control Recruiting nowThis study tests a stem cell transplant for people with common variable immunodeficiency (CVID) and other immune disorders. The goal is to replace the faulty immune system with a healthy donor's stem cells. Participants are aged 5 to 40 and will receive a reduced-intensity transp…
Phase 2 • Sponsor: Paul Szabolcs • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
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New study tests gum surgery to speed up braces and improve results
Disease control Recruiting nowThis study compares two flapless surgical techniques used alongside braces to see which better improves gum and bone changes. Forty adults with mild to moderate crowding will receive either a soft tissue graft or a bone graft during their orthodontic treatment. Researchers will m…
Sponsor: Universidad Complutense de Madrid • Aim: Disease control
Last updated Jun 27, 2026 12:31 UTC
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Could a simple diet change help kids with Ultra-Rare metabolic disorder?
Disease control Recruiting nowThis study tests whether a purine-rich diet can lower disease markers in people with AICA-ribosiduria, a rare genetic condition causing severe disability and epilepsy. Ten participants will follow a diet with 160 mg of purines per day. Early results in one patient showed promise,…
Sponsor: Centre Hospitalier Universitaire de Saint Etienne • Aim: Disease control
Last updated Jun 27, 2026 12:30 UTC
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New program aims to cut risky drug mix-ups for kids on multiple medications
Disease control Recruiting nowThis study tests a program called Pediatric Medication Therapy Management (pMTM) for children with complex medical conditions who take five or more medications. The program involves a thorough review of all medicines, optimizing the regimen, and creating a clear medication plan. …
Sponsor: University of Colorado, Denver • Aim: Disease control
Last updated Jun 27, 2026 12:24 UTC
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Nanocoated screws could make braces work faster
Disease control Recruiting nowThis study compares two types of tiny screws used in braces to help move upper front teeth. One type has a special silver-hydroxyapatite coating, while the other is uncoated. Researchers want to see if the coated screws are more successful and allow faster tooth movement. The tri…
Sponsor: Al-Azhar University • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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New device aims to tame immune attack after stem cell transplants
Disease control Recruiting nowThis study tests a device that removes specific immune cells from donated stem cells before transplant. The goal is to lower the risk of graft-versus-host disease, where donor cells attack the patient's body. Up to 90 children and young adults (ages 0-30) will receive these treat…
Sponsor: Christopher Dvorak • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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Smart pump trial aims to ease diabetes management for kids
Disease control Recruiting nowThis study follows 120 Israeli children and teens with type 1 diabetes who use the Medtronic 780G system, a closed-loop insulin pump that automatically adjusts insulin. Researchers will track blood sugar control, sleep, diet, and emotional well-being over two years. The goal is t…
Sponsor: Sheba Medical Center • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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New drug cocktail aims to ease dual Heart-Lung condition
Disease control Recruiting nowThis study tests whether adding macitentan to the standard drug dapagliflozin improves outcomes for people with heart failure and a specific type of high blood pressure in the lungs. 64 adults in South Korea will take either the combo or dapagliflozin alone for 24 weeks. Research…
Phase 4 • Sponsor: Gachon University Gil Medical Center • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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New hope for rare genetic disorder: drug ION440 enters human trials
Disease control Recruiting nowThis study tests a new drug called ION440 in 48 people with MECP2 duplication syndrome, a rare genetic condition that causes intellectual disability and seizures. The drug is given via a spinal injection to see if it is safe and how the body processes it. Some participants will r…
Phase 1/2 • Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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First gene therapy for rare brain disorder begins testing in kids
Disease control Recruiting nowThis early-stage trial tests a gene therapy called Urbagen in 12 children aged 2-12 with CTNNB1 neurodevelopmental syndrome, a rare genetic condition causing motor and cognitive delays. The therapy is given as a single infusion into the brain fluid, along with immunosuppressant d…
Phase 1/2 • Sponsor: CTNNB1 Foundation • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New study tests medications for brain symptoms in three genetic disorders
Disease control Recruiting nowThis study looks at thinking and mental health issues in people with Velocardiofacial, Williams, and Fragile X syndromes. Researchers will test how well medications like methylphenidate, fluoxetine, and risperidone improve these symptoms. The goal is to better understand and trea…
Phase 4 • Sponsor: The Chaim Sheba Medical Center • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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New exercise program aims to get adults with intellectual disability moving more
Disease control Recruiting nowThis study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…
Sponsor: University of North Carolina, Chapel Hill • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
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Could a simple supplement save feverish kids in poor countries?
Disease control Recruiting nowThis study tests whether giving L-Citrulline, a natural supplement, for 28 days can help hospitalized children aged 1 month to 5 years who have fever and are at high risk of serious problems. About 888 children in Mozambique and Ethiopia will receive either the supplement or a pl…
Sponsor: Barcelona Institute for Global Health • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
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New stem cell filter could make transplants safer for vulnerable patients
Disease control Expanded accessThis expanded access program offers a special stem cell purification technique (CD34+ selection) for patients undergoing stem cell transplants. The method removes many T-cells from the donated stem cells, which lowers the risk of a serious complication called graft-versus-host di…
Sponsor: University of Florida • Aim: Disease control
Last updated Jun 27, 2026 09:06 UTC
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Double shock may save more cardiac arrest victims
Disease control Recruiting nowThis trial tests whether using two defibrillators in sequence, instead of the standard single defibrillator, can improve survival in people whose hearts are in a shockable rhythm but don't respond to the first shock. About 916 adults with out-of-hospital cardiac arrest will be ra…
Phase 2/3 • Sponsor: Gabriel Riva • Aim: Disease control
Last updated Jun 27, 2026 09:05 UTC
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New stem cell transplant could reduce immune suppression in bone marrow failure patients
Disease control Recruiting nowThis phase 2 trial tests a special stem cell transplant for people with inherited bone marrow failure disorders like Fanconi anemia. The transplant uses a technique to remove certain immune cells, aiming to reduce the need for long-term immune-suppressing drugs and lower infectio…
Phase 2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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Experimental stem cell transplant could reduce toxic side effects for fanconi anemia patients
Disease control Recruiting nowThis study tests a new way to treat Fanconi Anemia, a rare genetic disorder that causes bone marrow failure. Doctors will give patients donor stem cells that have been specially filtered to remove certain immune cells, along with an experimental antibody called JSP191. The goal i…
Phase 1/2 • Sponsor: Porteus, Matthew, MD • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New weekly shot aims to curb obesity in rare genetic disorders
Disease control Recruiting nowThis study tests a weekly injection called RM-718 in healthy people with obesity and in patients with obesity caused by problems in the MC4R pathway, including hypothalamic obesity and Prader-Willi syndrome. The main goal is to check the drug's safety and how the body processes i…
Phase 1/2 • Sponsor: Rhythm Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:06 UTC
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New transplant approach aims to fix broken immune systems
Disease control Recruiting nowThis phase 2 trial is testing a stem cell transplant using a milder chemotherapy regimen to treat people with severe immune deficiencies and inherited bone marrow failure. The goal is to see if donor cells can safely take over and rebuild a healthy immune system. Up to 27 partici…
Phase 2 • Sponsor: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins • Aim: Disease control
Last updated Jun 27, 2026 08:00 UTC
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Can wobbly surfaces help kids with cerebral palsy? new trial aims to find out
Disease control Recruiting nowThis study tests whether dynamic surface exercise training (exercises on unstable surfaces like physio balls) can improve mobility, balance, and coordination in children aged 5-8 with diplegic cerebral palsy. 14 children will be randomly assigned to either the dynamic surface exe…
Sponsor: Riphah International University • Aim: Disease control
Last updated Jun 27, 2026 07:59 UTC
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New hope for fanconi anemia: safer stem cell transplant trial opens
Disease control Recruiting nowThis study tests a stem cell transplant approach for people with Fanconi Anemia who don't have a perfectly matched donor. The goal is to see if using lower doses of chemotherapy before the transplant can reduce serious side effects. About 70 participants will receive a transplant…
Phase 2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 27, 2026 07:57 UTC
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Could a diabetes drug help teens with rare obesity syndromes shed pounds?
Disease control Recruiting nowThis study tests tirzepatide, a weight loss medication, in 36 young adults aged 18-26 with obesity from Prader-Willi syndrome, hypothalamic obesity, or general causes. Participants take the drug for 48 weeks to see how much weight they lose and how their health changes. The goal …
Phase 4 • Sponsor: Grace Kim • Aim: Disease control
Last updated Jun 26, 2026 17:35 UTC
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New combo radiation therapy aims to tame large brain tumors
Disease control Recruiting nowThis study tests a new way to treat large brain tumors using two different radiation machines. Patients get four daily treatments with a linear accelerator, then a break, followed by one precise Gamma Knife treatment. The goal is to better control tumors while protecting healthy …
Phase 2 • Sponsor: Sunnybrook Health Sciences Centre • Aim: Disease control
Last updated Jun 26, 2026 15:18 UTC
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New rapid test could save lives of febrile children in africa
Diagnosis Recruiting nowThis study tests whether a rapid triage test (suPAR) can help doctors make better decisions about admitting or discharging children with fever. Over 5,000 children aged 2 months to 5 years in sub-Saharan Africa will be randomly assigned to standard care or standard care plus the …
Sponsor: Barcelona Institute for Global Health • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC
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New MRI method could spot oral cancer early in rare disease patients
Diagnosis Recruiting nowThis study explores whether MRI scans can safely and accurately detect cancerous or precancerous mouth lesions in people with Fanconi Anemia, a rare genetic condition that raises cancer risk. Researchers will compare MRI results to standard biopsies in 80 adult participants. If s…
Sponsor: University of Minnesota • Aim: Diagnosis
Last updated Jul 04, 2026 00:00 UTC
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New prenatal blood test aims to detect genetic disorders without invasive procedures
Diagnosis Recruiting nowThis study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…
Sponsor: BillionToOne Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
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Light-Based brain scan could revolutionize diagnosis of rare genetic disorders
Diagnosis Recruiting nowThis study is testing whether a non-invasive brain imaging technique called fNIRS can reliably measure brain function in people with Fragile X syndrome or Creatine Transporter Deficiency. Researchers will use a cartoon-based visual stimulus to record brain activity and compare it…
Sponsor: Hospices Civils de Lyon • Aim: Diagnosis
Last updated Jun 27, 2026 12:34 UTC
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Massive study aims to catch kidney disease early in 13,000 children
Diagnosis Recruiting nowThis study will screen 13,000 children in China using urine tests and ultrasound to find kidney disease early. The goal is to see how common kidney problems are in kids and to build a system to predict who is at risk. Children with abnormal results will be referred for further ca…
Sponsor: Children's Hospital of Fudan University • Aim: Diagnosis
Last updated Jun 27, 2026 12:01 UTC
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New DNA mapping technique may solve mystery birth defects
Diagnosis Recruiting nowThis study tests a new genetic technique called optical genome mapping (OGM) to find hidden DNA changes in children with multiple birth defects and intellectual disability. Standard genetic tests have already failed to find a cause for these children. Researchers will collect a b…
Sponsor: Céline PEBREL-RICHARD • Aim: Diagnosis
Last updated Jun 27, 2026 09:00 UTC
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AI face scan could spot hidden heart disease
Diagnosis Recruiting nowThis study tests whether an artificial intelligence (AI) algorithm can screen for coronary artery disease (CAD) by analyzing facial images. Researchers will enroll 1,392 high-risk adults (those with diabetes, high blood pressure, or over 65) and use the AI to classify them as hig…
Sponsor: China National Center for Cardiovascular Diseases • Aim: Diagnosis
Last updated Jun 27, 2026 08:09 UTC
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Cartoon characters could make Kids' eye exams more accurate
Diagnosis Recruiting nowThis study tests whether showing cartoon video clips and using character voices during a visual field test can help children aged 5-8 stay focused and give more reliable results. Twenty children with certain eye conditions will be tested twice, once with the cartoon intervention …
Sponsor: Nova Southeastern University • Aim: Diagnosis
Last updated Jun 26, 2026 16:36 UTC
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Sealant showdown: healthy vs. Early-Cavity teeth – which holds up better?
Prevention Recruiting nowThis study will place dental sealants on 420 back teeth in children and teens aged 7 to 18. Half of the teeth are healthy, and half have very early cavities. Researchers will check how well the sealants stay on over 12 months to see if early decay affects retention. The goal is t…
Sponsor: Foundation University Islamabad • Aim: Prevention
Last updated Jun 27, 2026 12:37 UTC
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Which cavity stopper works best for kids' molars?
Prevention Recruiting nowThis study tests three cavity-prevention methods in 204 Mexican schoolchildren aged 6-8. One group gets fluoride varnish alone, another gets a glass ionomer sealant plus fluoride varnish, and the third gets a Giomer® sealant. All children also receive dental health education. Res…
Sponsor: Universidad Nacional Autonoma de Mexico • Aim: Prevention
Last updated Jun 27, 2026 07:52 UTC
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A shot to straighten a smile: botulinum toxin tested in kids with facial asymmetry
Symptom relief Recruiting nowThis trial tests whether botulinum toxin type A injections can improve lower-lip asymmetry in children with hemifacial microsomia, a condition where the lower lip moves unevenly during smiling or speaking. The study enrolls children under 18 with this condition and a crooked-mout…
Sponsor: Peking Union Medical College • Aim: Symptom relief
Last updated Sep 12, 2026 00:00 UTC
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Fish or puppets: which distraction works best for needle-phobic kids?
Symptom relief Recruiting nowThis trial tests whether two simple distractions — watching a betta fish or playing with a hand puppet — can lower pain, fear, and anxiety in children aged 5 to 7 during a blood draw. One group will use the fish, another the puppet, and a third will receive standard care. Researc…
Phase 1 • Sponsor: Igdir University • Aim: Symptom relief
Last updated Sep 11, 2026 00:00 UTC
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New group therapy aims to tame meltdowns in Prader-Willi teens
Symptom relief Recruiting nowThis study tests a group program to help teens (ages 13-17.5) with Prader-Willi Syndrome and their families learn practical ways to handle irritability, meltdowns, and anxiety. Ten participants will attend weekly 90-minute sessions. The goal is to see if the program improves emot…
Sponsor: Children's Mercy Hospital Kansas City • Aim: Symptom relief
Last updated Sep 04, 2026 00:00 UTC
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New drug aims to tackle sleepiness in rare genetic disorder
Symptom relief Recruiting nowThis Phase 3 trial tests whether pitolisant can reduce excessive daytime sleepiness in people aged 6 and older with Prader-Willi syndrome. About 134 participants will receive either pitolisant or a placebo, and researchers will also look at effects on behavior and appetite. The s…
Phase 3 • Sponsor: Harmony Biosciences Management, Inc. • Aim: Symptom relief
Last updated Aug 27, 2026 00:00 UTC
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New study tests online therapy to ease stress for parents of kids with RASopathies
Symptom relief Recruiting nowThis study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…
Sponsor: National Cancer Institute (NCI) • Aim: Symptom relief
Last updated Aug 26, 2026 00:00 UTC
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A common antidepressant may tame anxiety in kids with autism and ADHD — a trial puts it to the test
Symptom relief Recruiting nowThis trial tests whether sertraline, a widely used antidepressant, can reduce anxiety in children and teens aged 8 to 17 with neurodevelopmental disorders such as autism, ADHD, Fragile X syndrome, and Tourette syndrome. Participants receive either sertraline or a placebo for seve…
Phase 2 • Sponsor: Holland Bloorview Kids Rehabilitation Hospital • Aim: Symptom relief
Last updated Jul 29, 2026 00:00 UTC
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Can a supplement ease knee pain? new study seeks answers
Symptom relief Recruiting nowThis study tests whether a supplement called MyCondro can help people with knee osteoarthritis move better and feel less joint discomfort. Researchers will give two different doses to 240 adults aged 45 and older who have had knee problems for at least six months. The main goal i…
Sponsor: Lesaffre International • Aim: Symptom relief
Last updated Jul 24, 2026 00:00 UTC
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Can facial exercises ease the stiffness of scleroderma?
Symptom relief Recruiting nowThis study tests whether a personalized facial rehabilitation program can help people with systemic sclerosis who have facial tightness and mouth problems. About 60 adults with this rare autoimmune disease will either receive the rehab program or standard care. The goal is to see…
Sponsor: University Hospital, Strasbourg, France • Aim: Symptom relief
Last updated Jun 27, 2026 13:04 UTC
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Which expander hurts less? new study for kids with crossbite
Symptom relief Recruiting nowThis study compares two dental devices—the Leaf expander and the Hyrax expander—in 30 children aged 6 to 12 who have a crossbite (when upper teeth sit inside lower teeth). The main goal is to see which expander causes less pain during the first week. Researchers will also measure…
Sponsor: Cairo University • Aim: Symptom relief
Last updated Jun 27, 2026 13:02 UTC
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Could a Parkinson's drug ease symptoms of a rare childhood brain condition?
Symptom relief Recruiting nowThis study tests whether L-dopa, a drug used for Parkinson's, can improve movement and communication in children with a rare genetic disorder called CTNNB1 syndrome. The condition causes developmental delays, muscle stiffness, and trouble walking. Seven children aged 1 to 15 will…
Sponsor: University Hospital, Montpellier • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Can a light box beat daytime sleepiness in Prader-Willi?
Symptom relief Recruiting nowThis study tests whether bright light therapy can help reduce excessive daytime sleepiness in people with Prader-Willi syndrome. About 50 participants will receive either bright light or a dim placebo light. The goal is to see if the therapy improves alertness, mood, and behavior…
Sponsor: Maimonides Medical Center • Aim: Symptom relief
Last updated Jun 27, 2026 12:34 UTC
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Hypnosis tested as a chill pill for face surgery
Symptom relief Recruiting nowThis study is testing whether hypnosis can lower anxiety in people having facial surgery under local anesthesia. Sixty-six adults who are at least mildly anxious will either get standard care or extra hypnosis support. Researchers will measure anxiety levels before and after surg…
Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Symptom relief
Last updated Jun 27, 2026 12:33 UTC
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Old-School game Kho-Kho put to the test for boosting Kids' agility
Symptom relief Recruiting nowThis study tests whether playing Kho-Kho, a traditional Indian tag game, can improve agility and reaction time in school children aged 8 to 12. Over 6 weeks, 48 kids will either play Kho-Kho or do free play three times a week. Researchers will measure changes in agility and react…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Jun 27, 2026 12:32 UTC
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Gentle movement method tested for kids with muscle disease
Symptom relief Recruiting nowThis study looks at whether the Alexander technique, a method that teaches better posture and movement habits, can help children aged 5 to 9 with Duchenne muscular dystrophy control their upper limbs and feel better day-to-day. About 33 kids will take part, and researchers will m…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Jun 27, 2026 09:09 UTC
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Sensory play may ease autism symptoms in kids
Symptom relief Recruiting nowThis study tests whether sensory exercises can improve repetitive behaviors, communication, social interaction, and motor skills in children with autism. About 26 children aged 5 to 11 will take part. Researchers will measure changes using standard questionnaires before and after…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Jun 27, 2026 09:07 UTC
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Toy dolls tame injection terror in preschoolers
Symptom relief Recruiting nowThis study tests whether playing with a therapeutic toy doll before getting a shot can reduce fear, anxiety, and pain in children aged 4-6. Half the kids will practice the injection steps on a doll first, while the other half get the shot as usual. Researchers will measure fear a…
Sponsor: Ataturk University • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC
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Mindfulness lessons could ease hospital fears for kids
Symptom relief Recruiting nowThis study tests whether a mindfulness-based emotion regulation training program can help children aged 7-11 who are hospitalized for at least four days feel less afraid and better control their emotions. Half of the 54 participants will receive the training alongside usual care,…
Sponsor: Ataturk University • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC
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3D-Printed splints aim to restore smiles for burn survivors
Symptom relief Recruiting nowThis study tests whether a custom 3D-printed mouth splint can help burn patients who have developed microstomia (a tight, small mouth opening). Ten participants will use the splint and be measured for changes in mouth size and function using a special survey. The goal is to ease …
Sponsor: Wake Forest University Health Sciences • Aim: Symptom relief
Last updated Jun 27, 2026 08:04 UTC
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Exercise may improve sleep for children battling blood cancer
Symptom relief Recruiting nowThis study looks at whether doing adapted physical activity every day can improve sleep quality in children aged 5 to 16 who are being treated for blood cancer. About 30 children will take part, with some exercising daily and others just once over four days. Parents will track sl…
Sponsor: University Hospital, Clermont-Ferrand • Aim: Symptom relief
Last updated Jun 27, 2026 08:02 UTC
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Magnetic brain zap could curb uncontrollable hunger in rare disorder
Symptom relief Recruiting nowThis study tests whether a noninvasive technique called transcranial magnetic stimulation (TMS) can change brain activity related to hunger and fullness in people with Prader-Willi syndrome. Researchers will stimulate a part of the brain called the cerebellum and measure changes …
Sponsor: Brigham and Women's Hospital • Aim: Symptom relief
Last updated Jun 27, 2026 08:01 UTC
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Could a headset boost brainpower in teens with a rare genetic condition?
Symptom relief Recruiting nowThis study tests whether a gentle brain stimulation technique called tACS, used at home for 5 days a week over 4 weeks, can improve memory and thinking in 40 young people aged 14-25 with 22q11.2 deletion syndrome. The stimulation is personalized based on each participant's MRI an…
Sponsor: Stephan Eliez • Aim: Symptom relief
Last updated Jun 27, 2026 08:01 UTC
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Bag workout for kids: simple exercise may improve posture and balance
Symptom relief Recruiting nowThis study looks at whether doing Bulgarian bag exercises—like squats and lunges with a weighted bag—can improve lower limb function, posture, and balance in healthy school children aged 8 to 16. About 345 kids will take part, doing exercises guided by a therapist. Researchers wi…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Jun 27, 2026 07:59 UTC
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Posture fix? alexander technique tested in teens
Symptom relief Recruiting nowThis study looks at whether the Alexander Technique, a method that teaches better posture and movement, can help teenagers aged 13 to 16 with upper cross syndrome (a common postural problem). Thirty-six participants will either practice the Alexander Technique at home with parent…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Jun 27, 2026 07:59 UTC
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Pilates put to the test for Schoolchildren's aching backs
Symptom relief Recruiting nowThis study tests whether a 12-week Pilates program can reduce pain and improve trunk muscle endurance in 140 children aged 12-16 who have backpack syndrome. One group does Pilates twice a week, while the other does standard stretching. Researchers will measure pain levels and how…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Jun 27, 2026 07:59 UTC
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New behavioral therapy aims to tame tantrums in rare genetic disorder
Symptom relief Recruiting nowThis study tests a behavioral therapy for children with Cornelia de Lange syndrome (CdLS) who have problem behaviors like aggression or self-injury. Researchers will identify what triggers these behaviors and then train parents to use a tailored treatment. The goal is to reduce p…
Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 07:55 UTC
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Scientists hunt for genes behind rare eye conditions
Knowledge-focused Recruiting nowThis study aims to uncover the genetic causes of a group of eye conditions called MAC (microphthalmia, anophthalmia, and uveal coloboma), which can lead to vision loss or blindness. Researchers will collect DNA samples from 600 people—both those with MAC and their close relatives…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
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Can a photo help diagnose a rare brain disorder?
Knowledge-focused Recruiting nowThis study looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic disorder that causes intellectual disability, seizures, and behavioral issues. Researchers will examine photos of participants to see if they share common facial traits…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Massive study aims to uncover cancer secrets in rare bone marrow diseases
Knowledge-focused Recruiting nowThis natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Could pollution and sleep habits be messing with your hormones? new study investigates.
Knowledge-focused Recruiting nowThis study looks at how things in your environment—like pollution, chemicals, diet, and sleep—might affect your hormones and reproductive health. Researchers will follow 300 people aged 8 and older who have conditions like low or high hormone levels, early or late puberty, or inf…
Sponsor: National Institute of Environmental Health Sciences (NIEHS) • Aim: Knowledge-focused
Last updated Sep 11, 2026 00:00 UTC
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New study to reveal hidden pancreatic issues in alagille syndrome patients after transplant
Knowledge-focused Recruiting nowThis study aims to find out how often exocrine pancreatic insufficiency (EPI) occurs in people with Alagille syndrome who have had a liver transplant. About 30 participants aged 7 to 50 will eat a high-fat diet and collect stool samples for lab testing. The results will help doct…
Sponsor: Digestive Care, Inc. • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 UTC
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New study aims to catch rare cancers early in fanconi anemia patients
Knowledge-focused Recruiting nowThis study follows people with Fanconi anemia, a rare inherited condition that raises the risk of certain cancers, especially squamous cell carcinoma. Researchers will screen 200 participants aged 12 and older every year for up to 10 years using exams, blood tests, and imaging to…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 02, 2026 00:00 UTC
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Massive study seeks clues to facial differences
Knowledge-focused Recruiting nowThis study aims to learn more about abnormal development of the face, head, and neck by comparing people with these conditions to their family members and healthy volunteers. Researchers will collect medical history, perform exams, take 3D images, and analyze genetic samples from…
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused
Last updated Aug 30, 2026 00:00 UTC
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Watching and learning: how cancer screenings affect people with fanconi anemia
Knowledge-focused Recruiting nowThis study looks at anxiety related to cancer screenings in adults with Fanconi anemia, a rare condition that raises cancer risk. Researchers will observe 20 participants during their regular screening visits, noting body language, worries, and the clinic environment. No treatmen…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Aug 29, 2026 00:00 UTC
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Scientists launch major study to unravel rare genetic conditions
Knowledge-focused Recruiting nowThis study aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Aug 22, 2026 00:00 UTC
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Scientists launch major study to unravel mysterious metabolism disorders
Knowledge-focused Recruiting nowThis study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 21, 2026 00:00 UTC
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New study aims to unlock secrets of rare cholesterol diseases
Knowledge-focused Recruiting nowThis natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 19, 2026 00:00 UTC
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Hunting for hidden genes that shape a genetic Disorder's severity
Knowledge-focused Recruiting now22q11.2 deletion syndrome can cause heart defects, facial differences, and learning challenges, but its severity differs widely from person to person. This study analyzes DNA from 1,000 people with the deletion to identify genetic variations that might influence how the disorder …
Sponsor: Albert Einstein College of Medicine • Aim: Knowledge-focused
Last updated Jul 31, 2026 00:00 UTC
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Chew your way to a new jawline? science puts hard gum to the test
Knowledge-focused Recruiting nowThis pilot study investigates whether regularly chewing a hard gum for four weeks can produce measurable changes in facial shape. Twenty healthy adults aged 20 to 40 will chew a standardized hard gum every other day, and researchers will use 3D facial imaging to track any shifts …
Sponsor: UConn Health • Aim: Knowledge-focused
Last updated Jul 26, 2026 00:00 UTC
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Can mapping rare genetic variants unlock better care for autism-related disorders?
Knowledge-focused Recruiting nowThis international online study collects medical, behavioral, and developmental information from people with rare genetic changes that are linked to autism and other neurodevelopmental disorders. By partnering with families, researchers aim to build a detailed database to improve…
Sponsor: Simons Searchlight • Aim: Knowledge-focused
Last updated Jul 25, 2026 00:00 UTC
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Can a single drink reveal how alcohol triggers oral cancer?
Knowledge-focused Recruiting nowThis study investigates how acetaldehyde, a byproduct of alcohol, affects cells in the mouth and whether it may increase oral cancer risk. Healthy volunteers and individuals with Fanconi anemia (a condition linked to higher cancer risk) will consume a single dose of alcohol and p…
Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Knowledge-focused
Last updated Jul 24, 2026 00:00 UTC
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Gut bacteria byproducts may tame inflammation and shield the brain
Knowledge-focused Recruiting nowThis study tests whether short-chain fatty acids (SCFAs) — substances naturally produced by gut bacteria — can reduce inflammation and protect thinking skills. Healthy adults receive either SCFA capsules or a placebo, then a low dose of a bacterial substance that briefly activate…
Sponsor: Universitaire Ziekenhuizen KU Leuven • Aim: Knowledge-focused
Last updated Jul 22, 2026 00:00 UTC
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800 kids with rare eye conditions to be tracked for 10 years
Knowledge-focused Recruiting nowThis study follows 800 children born with eye malformations like microphthalmia, anophthalmia, aniridia, or anterior segment defects. Researchers will track their vision, brain development, and overall health for up to 10 years to better predict outcomes. No new treatments are be…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jul 09, 2026 00:00 UTC
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Can exercise ease statin muscle pain? new study investigates
Knowledge-focused Recruiting nowThis pilot study looks at how different types and intensities of exercise affect muscle recovery in people taking statins compared to those not on statins. Researchers will test cycling and resistance training at various levels, measuring muscle damage markers and pain sensitivit…
Sponsor: Raffaele Mazzolari • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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Hunt for hidden cancer genes: families needed to unlock hereditary secrets
Knowledge-focused Recruiting nowThis study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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New study tackles diagnostic maze for rare developmental disorders
Knowledge-focused Recruiting nowThis study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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French elbow score gets Kid-Friendly check
Knowledge-focused Recruiting nowThis study checks if a French version of the MEPS/MEPI elbow score works well for children aged 4 to 17. It includes kids with and without elbow injuries to see if the score accurately measures elbow pain and function. The goal is to make sure doctors can use this tool reliably i…
Sponsor: Centre Hospitalier Universitaire, Amiens • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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Massive gene hunt aims to unlock secrets of blood disorders
Knowledge-focused Recruiting nowThis study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:04 UTC
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Scientists hunt for clues to rare genetic disorders
Knowledge-focused Recruiting nowThis observational study aims to find biological markers (biomarkers) for RAI1-related disorders, including Smith-Magenis and Potocki-Lupski syndromes. Researchers will study 90 participants through clinical exams, blood tests, optional skin biopsies, and sleep studies. The goal …
Sponsor: Baylor College of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
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New study paves way for future treatments in rare brain disorder
Knowledge-focused Recruiting nowThis study looks at people with creatine transporter deficiency, a rare genetic condition that causes intellectual disability, seizures, and movement problems. Researchers want to find the best tests to measure symptoms, since many standard tests are too hard for these patients. …
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
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Baby jaundice may leave lasting marks on teeth, new study investigates
Knowledge-focused Recruiting nowThis study looks at how common tooth staining is in children who had very high bilirubin levels (jaundice) early in life. Researchers will check 120 children with certain liver conditions to see if their teeth are discolored and whether that affects their daily life. The goal is …
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC
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Massive study seeks clues to rare eye disorders in kids
Knowledge-focused Recruiting nowThis research study aims to learn more about children born with small or missing eyes (Microphthalmia, Anophthalmia, and Coloboma, or MAC) and how genetic changes may cause these conditions. Researchers will collect medical histories, saliva, and blood samples, and perform physic…
Sponsor: Baylor College of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC
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New national registry aims to unlock secrets of rare childhood liver diseases
Knowledge-focused Recruiting nowThis study creates a Canadian registry for children under 18 with Alagille syndrome or genetic intrahepatic cholestasis, rare liver conditions that cause bile buildup. Researchers will collect health data from medical records over time to understand how these diseases progress an…
Sponsor: Children's Hospital of Eastern Ontario • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC
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Gene test may guide chemo choice for tough pancreatic cancer
Knowledge-focused Recruiting nowThis pilot study aims to see if using five gene signatures from a patient's tumor can help doctors choose the best first chemotherapy for advanced pancreatic cancer. About 85 people with metastatic pancreatic cancer will have their tumor genes analyzed to pick between two standar…
Sponsor: Institut Curie • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC
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Brain scans reveal why head injuries can harm the heart
Knowledge-focused Recruiting nowThis study looks at how a traumatic brain injury (TBI) can lead to heart problems like irregular heartbeat or heart failure. Researchers will use MRI scans to see if damage to certain brain areas disrupts the network that controls the heart. By studying 90 people with mild to mod…
Sponsor: Shanghai 6th People's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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Hunting for hidden genetic triggers of severe childhood epilepsy
Knowledge-focused Recruiting nowThis study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:09 UTC
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Scientists hunt for cherubism genes in 600-Person study
Knowledge-focused Recruiting nowThis study aims to find the genes and DNA changes that cause cherubism, a rare condition that affects the jaw bones. Researchers will study blood and tissue samples from up to 600 people, including patients and their family members. The long-term goal is to understand the disease…
Sponsor: UConn Health • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:08 UTC
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Scientists map DNA 'Signatures' in rare fetal diseases
Knowledge-focused Recruiting nowThis study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Intensive brain training shows promise for kids with developmental delays
Knowledge-focused Recruiting nowThis study looks at how a 2-week, personalized therapy program helps children aged 4-12 with conditions like cerebral palsy, autism, or genetic disorders. Kids get about 2.5 hours of tailored therapy each day, focusing on skills like movement, attention, and communication. The go…
Sponsor: Healing Hope International • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Noonan syndrome research: scientists launch sample collection to unlock disease secrets
Knowledge-focused Recruiting nowThis study aims to create a collection of blood and urine samples from 100 people with Noonan syndrome. Researchers will use these samples to study how the disease works and look for factors that predict how it will progress. The study does not test any treatment, but may help gu…
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC
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Braces for better breathing? study tests if jaw realignment opens airways in children
Knowledge-focused Recruiting nowThis study looks at whether orthodontic treatments like Twin Block and Hyrax appliances can improve breathing in children aged 8-14 with small jaws and narrow upper airways. Researchers will use 3D scans to measure changes in airway shape and airflow. The goal is to understand if…
Sponsor: University of Alberta • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
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500 kids on life support: China's decade of ECMO revealed
Knowledge-focused Recruiting nowThis study looks back at the past 10 years to understand how a life-support machine called ECMO has been used in children across China. Researchers will gather information from 500 children, from newborns to 18-year-olds, to see how many survive after treatment, how long they nee…
Sponsor: Children's Hospital of Fudan University • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:01 UTC
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Noonan syndrome study aims to uncover hidden heart risks
Knowledge-focused Recruiting nowThis study looks at cholesterol and blood sugar levels in 200 people with Noonan syndrome and related conditions, aged 2 to 35. Researchers want to see if these levels differ by age, gender, or genetic type. The goal is to improve long-term care by identifying who might be at hig…
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:01 UTC
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New safety study monitors liver risks in kids taking livmarli
Knowledge-focused Recruiting nowThis study is monitoring 50 children in Japan with Alagille syndrome (ALGS) or progressive familial intrahepatic cholestasis (PFIC) who are taking the drug Livmarli (maralixibat). Researchers are using a national registry to track how many children develop liver problems and how …
Sponsor: Takeda • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
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2000-Patient study aims to uncover hidden metabolic risks in rare genetic disorders
Knowledge-focused Recruiting nowThis observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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Massive gene hunt launched for eye and nerve disorders
Knowledge-focused Recruiting nowThis study aims to find genes that cause eye misalignment (strabismus) and related conditions involving the cranial nerves and brainstem. Researchers will analyze DNA from up to 20,000 participants with these disorders. The goal is to better understand the genetic causes, which c…
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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Study aims to uncover hidden mental health struggles in rare genetic disorder
Knowledge-focused Recruiting nowThis study looks at psychiatric symptoms in people with White-Sutton syndrome, a rare genetic condition. Researchers will interview 30 children and adults and use standard questionnaires to identify anxiety, OCD, autism, and other issues. The goal is to better understand these sy…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC
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New scan techniques aim to solve rare heart disease mysteries
Knowledge-focused Recruiting nowThis study is testing advanced heart MRI scans to better diagnose and predict risks for people with rare heart muscle diseases. Researchers will scan 1000 participants to see if these new imaging methods can identify conditions like Fabry disease and cardiac amyloidosis more accu…
Sponsor: Chinese Academy of Medical Sciences, Fuwai Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC
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New registry aims to unlock secrets of rare diseases
Knowledge-focused Recruiting nowThis study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …
Sponsor: Hospital Italiano de Buenos Aires • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Researchers launch registry to unlock secrets of rare genetic disorders
Knowledge-focused Recruiting nowThis study collects information from people with ASXL-related disorders (such as Bohring-Opitz syndrome) to better understand how these conditions progress and are managed. No new treatments are tested; instead, participants share their medical history and records through surveys…
Sponsor: University of California, Los Angeles • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC
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New MRI study aims to unlock endometriosis mysteries
Knowledge-focused Recruiting nowThis study looks at how well pelvic organs move in women with endometriosis using dynamic MRI. Researchers want to see if measuring this movement can help diagnose the disease better and explain why some treatments don't work. About 52 women with suspected endometriosis will take…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC
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Massive study aims to unlock secrets of rare genetic disorders
Knowledge-focused Recruiting nowThis study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…
Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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New device aims to measure hidden heart stiffness
Knowledge-focused Recruiting nowThis observational study tests a new device (eMyosound LYRA) that uses sound waves to measure stiffness in the heart and liver. Researchers will compare 150 people—some with heart failure, some with a rare heart condition called ATTR-CM, and some healthy volunteers. The goal is t…
Sponsor: eMyosound SAS • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC
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New registry aims to unlock secrets of rare dwarfism disorders
Knowledge-focused Recruiting nowThis study creates a registry to collect health information from 200 people with rare forms of primordial dwarfism, such as MOPDII and Meier-Gorlin syndrome. Researchers hope to learn how these conditions change over a person's lifetime and improve future care. Participants provi…
Sponsor: Nemours Children's Clinic • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC
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Dragonfly study launches to map rare genetic syndrome
Knowledge-focused Recruiting nowThe Dragonfly study is an international observational project tracking the development of 250 children and adults with CTNNB1 neurodevelopmental syndrome. Researchers will collect medical history, perform neurological exams, and use questionnaires to understand how symptoms and a…
Sponsor: University Medical Centre Ljubljana • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC