CHARGE syndrome
CHARGE syndrome
Explore linked clinical trials. Standard reference: MONDO:00089653 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Characterization and Contribution of Genome-wide DNA Methylation (DNA Methylation Episignatures) in Rare Diseases With Prenatal Onset | Abnormalities, Multiple, CHARGE syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Deaf-Blind Disorders, Deafness, Ear Diseases, Eye Diseases, Hereditary, Kabuki syndrome, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Signs and Symptoms, blindness (disorder), coloboma, eye disorder, hearing disorder, hearing loss disorder, hereditary disease, hydrolethalus syndrome 1, nervous system disorder, otorhinolaryngologic disease, vision disorder | Recruiting | Not stated | 2026-03-27 | NCT06475651 | |
| Palliative Care Needs of Children With Rare Diseases and Their Families | Abnormalities, Multiple, Bone Diseases, Developmental, CHARGE syndrome, Cardiovascular Abnormalities, Cockayne syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DNA repair disease, Deaf-Blind Disorders, Deafness, Digestive System Diseases, Disease Attributes, Dwarfism, Ear Diseases, Eye Diseases, Hereditary, FOXG1 disorder, Hemic and Lymphatic Diseases, Hernia, Hernia, Diaphragmatic, Internal Hernia, KBG syndrome, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Noonan syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Postoperative Complications, Rare Diseases, Sensation Disorders, Signs and Symptoms, Skin and Connective Tissue Diseases, anxiety disorder, blindness (disorder), blood coagulation disease, bone disorder, cardiovascular disorder, chromosomal disorder, coagulation protein disease, coloboma, congenital diaphragmatic hernia, congenital heart disease, congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, connective tissue disorder, depressive disorder, digestive system disorder, eye disorder, factor VII deficiency, hearing disorder, hearing loss disorder, heart disorder, hematologic disorder, hemophilia A, hemorrhagic disease, hereditary disease, infantile epileptic-dyskinetic encephalopathy, inherited blood coagulation disorder, inherited neurodegenerative disorder, intellectual disability, intestinal disorder, malabsorption syndrome, metabolic disease, musculoskeletal system disorder, nervous system disorder, neurodegeneration with brain iron accumulation 5, neurodegenerative disease, otorhinolaryngologic disease, psychiatric disorder, severe hemophilia A, short bowel syndrome, trisomy 13, vision disorder | Enrolling by invitation | Not applicable | 2026-01-28 | NCT06938542 | |
| GROWing Up With Rare GENEtic Syndromes | 22q11.2 deletion syndrome, 46 XY differences of sex development, 48,XXYY syndrome, Abnormalities, Multiple, Allan-Herndon-Dudley syndrome, Aortic Stenosis, Supravalvular, Bardet-Biedl syndrome, Blepharophimosis syndrome Ohdo type, Bone Diseases, Developmental, CHARGE syndrome, Cardiovascular Abnormalities, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cytopenia, De Lange Syndrome, Deaf-Blind Disorders, Deafness, DiGeorge syndrome, Ear Diseases, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Imprinting Disorders, Jacobsen Distal 11q Deletion Syndrome, Kallmann syndrome, Klinefelter syndrome, Limb Deformities, Congenital, Lymphatic Abnormalities, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Noonan syndrome, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Rett syndrome, Saethre-Chotzen syndrome, Sensation Disorders, Sex Chromosome Disorders, Signs and Symptoms, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, Williams syndrome, X-linked disease, adrenal gland disorder, adrenogenital syndrome, aortic valve disorder, aortic valve stenosis, blepharophimosis - intellectual disability syndrome, Ohdo type, blindness (disorder), blood platelet disease, bone disorder, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, coloboma, congenital adrenal hyperplasia, congenital heart disease, connective tissue disorder, craniosynostosis, disorder of sexual differentiation, dysostosis, endocrine system disorder, eye disorder, gonadal disorder, gonadal dysgenesis, hamartoma, hearing disorder, hearing loss disorder, heart disorder, heart valve disorder, hematologic disorder, hereditary disease, hereditary neoplastic syndrome, hypogonadism, hypoparathyroidism, hypothalamic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, metabolic disease, musculoskeletal system disorder, neoplasm, nerve sheath neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurofibroma, neurofibromatosis, non-acquired combined pituitary hormone deficiency, nutritional disorder, obesity disorder, otorhinolaryngologic disease, overnutrition, parathyroid gland disorder, retinitis pigmentosa, sex chromosome disorder of sex development, steroid inherited metabolic disorder, syndactyly, synostosis, tetrasomy X, thrombocytopenia, tuberous sclerosis, velocardiofacial syndrome, vision disorder | Recruiting | Not stated | 2023-09-06 | NCT04463316 |