22q11.2 deletion syndrome
22q11.2 deletion syndrome
Explore linked clinical trials. Standard reference: MONDO:001892312 results · Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome | 22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, lymphatic system disorder, musculoskeletal system disorder, parathyroid gland disorder | Recruiting | Not stated | 2026-07-29 | NCT00556530 | |
| Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders | 22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Malformations of Cortical Development, Group I, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Tourette syndrome, X-linked disease, anxiety, anxiety disorder, attention deficit hyperactivity disorder, inattentive type, autism, autism spectrum disorder, basal ganglia disorder, brain disorder, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, congenital heart disease, endocrine system disorder, fragile X syndrome, hamartoma, heart disorder, hereditary disease, hereditary neoplastic syndrome, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, movement disorder, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, oppositional defiant disorder, parathyroid gland disorder, pervasive developmental disorder, psychiatric disorder, tic disorder, tuberous sclerosis | Recruiting | Phase 2 | 2026-07-27 | NCT06081348 | |
| Parent and Infant Inter(X)Action Intervention (PIXI) | 22q11.2 deletion syndrome, Abnormalities, Multiple, Angelman syndrome, Aortic Stenosis, Supravalvular, Cardiovascular Abnormalities, Chronobiology Disorders, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Duchenne muscular dystrophy, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hemic and Lymphatic Diseases, Imprinting Disorders, Klinefelter syndrome, Lymphatic Abnormalities, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Muscular Disorders, Atrophic, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Phelan-McDermid syndrome, Prader-Willi syndrome, Rett syndrome, Sex Chromosome Disorders, Smith-Magenis syndrome, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, congenital heart disease, developmental disability, disorder of sexual differentiation, endocrine system disorder, fragile X syndrome, gonadal disorder, gonadal dysgenesis, hamartoma, heart disorder, heart valve disorder, hereditary disease, hereditary neoplastic syndrome, hypogonadism, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, movement disorder, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neurodevelopmental disorder, neuromuscular disease, nutritional disorder, obesity disorder, overnutrition, parathyroid gland disorder, psychiatric disorder, sex chromosome disorder of sex development, tuberous sclerosis | Enrolling by invitation | Not applicable | 2026-07-13 | NCT03836300 | |
| The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment | 22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Chromosome Aberrations, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Sex Chromosome Aberrations, Trisomy 18 Syndrome, aneuploidy, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, parathyroid gland disorder, trisomy 13, trisomy 18 | Recruiting | Not stated | 2026-06-12 | NCT07643896 | |
| Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD) | 22q11.2 deletion syndrome, Abnormalities, Multiple, Blood Protein Disorders, Cardiovascular Abnormalities, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DNA repair disease, DiGeorge syndrome, Digestive System Diseases, Disease Attributes, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Nutritional and Metabolic Diseases, Omenn syndrome, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, X-linked disease, cardiovascular disorder, chromosomal disorder, chronic granulomatous disease, common variable immunodeficiency, congenital heart disease, digestive system disorder, dysgammaglobulinemia, endocrine system disorder, heart disorder, hematologic disorder, hereditary disease, hyper-IgM syndrome, hypoparathyroidism, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, immune system disorder, inborn error of immunity, intestinal disorder, leukocyte disorder, lymphatic system disorder, metabolic disease, musculoskeletal system disorder, parathyroid gland disorder, phagocyte bactericidal dysfunction, severe combined immunodeficiency | Recruiting | Phase 2 | 2026-05-15 | NCT07284641 | |
| Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders | 22q11.2 deletion syndrome, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Brain Damage, Chronic, Brain Injuries, Traumatic, Cardiovascular Abnormalities, Cerebral Palsy, Athetoid, Chromosome Aberrations, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniocerebral Trauma, Craniofacial Abnormalities, DiGeorge syndrome, Down syndrome, Hemic and Lymphatic Diseases, Hypoxia, Hypoxia, Brain, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, Signs and Symptoms, Respiratory, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, autism spectrum disorder, brain disorder, brain hypoxia - ischemia, brain injury, brain ischemia, cardiovascular disorder, central nervous system disorder, cerebral palsy, cerebral palsy spastic hemiplegic, cerebrovascular disorder, chromosomal disorder, congenital heart disease, developmental disability, endocrine system disorder, fragile X syndrome, heart disorder, heart valve disorder, hereditary disease, hypoparathyroidism, inherited neurodegenerative disorder, injury, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, nervous system injury, neurodevelopmental disorder, parathyroid gland disorder, perinatal asphyxia, pervasive developmental disorder, psychiatric disorder, vascular disorder | Recruiting | Not stated | 2026-03-25 | NCT07493096 | |
| The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome | 22q11.2 deletion syndrome, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Williams syndrome, X-linked disease, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, fragile X syndrome, heart disorder, heart valve disorder, hereditary disease, hypoparathyroidism, inherited neurodegenerative disorder, intellectual disability, lymphatic system disorder, musculoskeletal system disorder, nervous system disorder, parathyroid gland disorder, velocardiofacial syndrome | Recruiting | Phase 4 | 2026-03-18 | NCT00768820 | |
| Immune Disorder HSCT Protocol | 22q11.2 deletion syndrome, Abnormalities, Multiple, Blood Protein Disorders, Bruton-type agammaglobulinemia, Cardiovascular Abnormalities, Chediak-Higashi syndrome, Chronic Disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cytopenia, DNA repair disease, DiGeorge syndrome, Disease Attributes, Eye Diseases, Hereditary, Hemic and Lymphatic Diseases, Infant, Newborn, Diseases, Lymphatic Abnormalities, Lymphohistiocytosis, Hemophagocytic, Musculoskeletal Abnormalities, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Primary Immunodeficiency Diseases, Wiskott-Aldrich syndrome, X-linked disease, albinism, autoimmune disease, autoimmune lymphoproliferative syndrome, blood coagulation disease, cardiovascular disorder, chromosomal disorder, chronic granulomatous disease, common variable immunodeficiency, congenital heart disease, dysgammaglobulinemia, endocrine system disorder, eye disorder, heart disorder, hematologic disorder, hemorrhagic disease, hereditary disease, histiocytosis, hyper-IgM syndrome, hypoparathyroidism, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, immune system disorder, immunoproliferative disorder, inborn error of immunity, inherited blood coagulation disorder, leukocyte disorder, leukopenia, lymphatic system disorder, lymphopenia, lymphoproliferative syndrome, metabolic disease, musculoskeletal system disorder, non-Langerhans cell histiocytosis, parathyroid gland disorder, phagocyte bactericidal dysfunction, severe combined immunodeficiency | Active, not recruiting | Phase 2 | 2026-02-19 | NCT01821781 | |
| Using Transcranial Alternating Current Stimulation to Improve Executive Function in 22q11.2 Deletion Syndrome | 22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, lymphatic system disorder, musculoskeletal system disorder, parathyroid gland disorder | Recruiting | Not applicable | 2025-12-02 | NCT05664412 | |
| Understanding of Psychotic Disorders in Children With 22q11.2DS | 22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, lymphatic system disorder, musculoskeletal system disorder, parathyroid gland disorder | Recruiting | Not applicable | 2025-07-30 | NCT04639388 | |
| 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 | |
| Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development | 22q11.2 deletion syndrome, Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, DiGeorge syndrome, Hemic and Lymphatic Diseases, Lymphatic Abnormalities, Musculoskeletal Abnormalities, adolescent idiopathic scoliosis, cardiovascular disorder, chromosomal disorder, congenital heart disease, endocrine system disorder, heart disorder, hereditary disease, hypoparathyroidism, lymphatic system disorder, musculoskeletal system disorder, parathyroid gland disorder | Recruiting | Not stated | 2023-06-29 | NCT05924347 |