chromosomal disorder
chromosomal disorder
Explore linked clinical trials. Standard reference: MONDO:0019040228 results · Page 1 of 10
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, X-linked disease, autism, autism spectrum disorder, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder | Not yet recruiting | Phase 2 / Phase 3 | 2026-10-09 | NCT07439510 | |
| A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment | Abnormalities, Multiple, Body Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Froelich syndrome, Imprinting Disorders, Male Urogenital Diseases, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Parkes Weber syndrome, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Signs and Symptoms, Urogenital Abnormalities, Urogenital Diseases, chromosomal disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, hereditary disease, hypogonadism, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutrition | Active, not recruiting | Phase 1 / Phase 2 | 2026-10-09 | NCT06239116 | |
| Observational Study of VYKAT™ XR in Patients With Prader-Willi Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Prader-Willi syndrome, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutrition | Enrolling by invitation | Not stated | 2026-10-08 | NCT07450664 | |
| Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions in Infants With Down Syndrome | Abnormalities, Multiple, Apnea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Dyssomnias, Neurobehavioral Manifestations, Neurologic Manifestations, Respiration Disorders, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, obstructive sleep apnea syndrome, respiratory system disorder, sleep apnea syndrome, sleep-wake disorder | Not yet recruiting | Not applicable | 2026-10-07 | NCT07658053 | |
| Impact of Bright Light Therapy on Prader-Willi Syndrome | Abnormalities, Multiple, Body Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disorders of Excessive Somnolence, Dyssomnias, Excessive Daytime Sleepiness, Hyperphagia, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Signs and Symptoms, Signs and Symptoms, Digestive, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutrition, psychiatric disorder, sleep-wake disorder | Active, not recruiting | Not applicable | 2026-10-06 | NCT05939453 | |
| Escalating Doses of Memantine in Down Syndrome (MEDS-123) | Abnormalities, Multiple, Alzheimer disease, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, brain disorder, central nervous system disorder, chromosomal disorder, cognitive disorder, dementia, hereditary disease, intellectual disability, nervous system disorder, neurodegenerative disease, neurodevelopmental disorder, psychiatric disorder, tauopathy | Not yet recruiting | Phase 1 | 2026-10-05 | NCT07531940 | |
| Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Sex Chromosome Disorders, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, brain disorder, cardiovascular disorder, central nervous system disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, galactosemia, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, metabolic disease, nervous system disorder, sex chromosome disorder of sex development | Recruiting | Not stated | 2026-10-05 | NCT04948658 | |
| Defining the Brain Phenotype of Children With Williams Syndrome | Aortic Stenosis, Supravalvular, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Williams syndrome, aortic valve disorder, aortic valve stenosis, cardiovascular disorder, chromosomal disorder, heart disorder, heart valve disorder, hereditary disease, intellectual disability, nervous system disorder | Recruiting | Not stated | 2026-10-05 | NCT01132885 | |
| Vascular Function in Adults With Down Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder | Recruiting | Not stated | 2026-10-02 | NCT07630207 | |
| Natural History of Noncirrhotic Portal Hypertension | Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hypertrophy, Idiopathic Noncirrhotic Portal Hypertension, Infant, Newborn, Diseases, Male Urogenital Diseases, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Splenomegaly, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, cystic fibrosis, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, immune system disorder, inborn error of immunity, isolated congenital hepatic fibrosis, liver disorder, lung disorder, pancreas disorder, portal hypertension, respiratory system disorder, sex chromosome disorder of sex development, varicose disease, vascular disorder | Recruiting | Not stated | 2026-10-02 | NCT02417740 | |
| A Study to Investigate Blinatumomab in Combination With Chemotherapy in Patients With Newly Diagnosed B-Lymphoblastic Leukemia | Abnormalities, Multiple, B-cell neoplasm, Burkitt lymphoma, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA Virus Infections, Down syndrome, Epstein-Barr virus infection, Hemic and Lymphatic Diseases, Herpesviridae infectious disease, Infections, Neoplasms by Histologic Type, Neurobehavioral Manifestations, Neurologic Manifestations, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Tumor Virus Infections, chromosomal disorder, hematologic disorder, hereditary disease, immune system disorder, immunoproliferative disorder, intellectual disability, leukemia, lymphatic system disorder, lymphoid leukemia, lymphoma, lymphoproliferative syndrome, neoplasm, nervous system disorder, viral infectious disease | Active, not recruiting | Phase 3 | 2026-10-01 | NCT03914625 | |
| Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders | Bone Diseases, Developmental, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Dwarfism, Failure to Thrive, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Musculoskeletal Abnormalities, Noonan syndrome, Pathological Conditions, Signs and Symptoms, Sex Chromosome Disorders, Signs and Symptoms, Skin and Connective Tissue Diseases, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, bone disorder, cardiovascular disorder, chromosomal disorder, congenital heart disease, connective tissue disorder, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, musculoskeletal system disorder, sex chromosome disorder of sex development | Recruiting | Phase 3 | 2026-09-30 | NCT07221851 | |
| Down Syndrome Obstructive Sleep Apnea | Abnormalities, Multiple, Apnea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Dyssomnias, Neurobehavioral Manifestations, Neurologic Manifestations, Respiration Disorders, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, obstructive sleep apnea syndrome, respiratory system disorder, sleep apnea syndrome, sleep-wake disorder | Recruiting | Phase 2 | 2026-09-30 | NCT06043440 | |
| Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM) | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, X-linked disease, chromosomal disorder, fragile X syndrome, hereditary disease, inherited neurodegenerative disorder, intellectual disability, nervous system disorder | Recruiting | Phase 2 | 2026-09-29 | NCT07209462 | |
| REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome | Abnormalities, Multiple, Angelman syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, central nervous system disorder, chromosomal disorder, hereditary disease, movement disorder, nervous system disorder | Active, not recruiting | Phase 3 | 2026-09-29 | NCT06914609 | |
| CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS) | Abnormalities, Multiple, Angelman syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, central nervous system disorder, chromosomal disorder, hereditary disease, movement disorder, nervous system disorder | Recruiting | Phase 3 | 2026-09-28 | NCT07782827 | |
| Exploring Sympathetic Nervous System Function in Individuals With Down Syndrome | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, autonomic nervous system disorder, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, primary dysautonomia | Recruiting | Phase 3 | 2026-09-28 | NCT07238465 | |
| An Open-Label Phase II Feasibility Study for the Use of Ublituximab in Adults With Down Syndrome Regression Disorder | Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder | Not yet recruiting | Phase 2 | 2026-09-23 | NCT07812181 | |
| Web Intervention for Parents of Youth With Genetic Syndromes (WINGS) | Abnormalities, Multiple, Angelman syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Imprinting Disorders, Malformations of Cortical Development, Group I, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neurologic Manifestations, Phelan-McDermid syndrome, Rett syndrome, Sex Chromosome Disorders, X-linked disease, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, chromosomal disorder, creatine transporter deficiency, fragile X syndrome, hamartoma, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, intellectual disability, movement disorder, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, partial deletion of the long arm of chromosome 15, tuberous sclerosis | Active, not recruiting | Not applicable | 2026-09-18 | NCT06139172 | |
| Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome | Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Ear Diseases, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hearing Loss, Sensorineural, Male Urogenital Diseases, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Sensation Disorders, Sex Chromosome Disorders, Signs and Symptoms, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, hearing disorder, hearing loss disorder, heart disorder, hereditary disease, inner ear disorder, nervous system disorder, otorhinolaryngologic disease, sex chromosome disorder of sex development | Recruiting | Not stated | 2026-09-11 | NCT06507007 | |
| Treatment of Obstructive Sleep Apnea With Personalized Surgery in Children With Down Syndrome (TOPS-DS) | Abnormalities, Multiple, Apnea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Dyssomnias, Neurobehavioral Manifestations, Neurologic Manifestations, Respiration Disorders, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, obstructive sleep apnea syndrome, respiratory system disorder, sleep apnea syndrome, sleep-wake disorder | Recruiting | Not applicable | 2026-09-11 | NCT05508971 | |
| Hematological Profile in Children With Numerical Chromosomal Disorders | Abnormalities, Multiple, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Klinefelter syndrome, Male Urogenital Diseases, Neurobehavioral Manifestations, Neurologic Manifestations, Sex Chromosome Disorders, Trisomy 18 Syndrome, Turner syndrome, Urogenital Abnormalities, Urogenital Diseases, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, endocrine system disorder, gonadal disorder, gonadal dysgenesis, heart disorder, hereditary disease, hypogonadism, intellectual disability, nervous system disorder, sex chromosome disorder of sex development, trisomy 18 | Not yet recruiting | Not stated | 2026-09-10 | NCT07807540 | |
| BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome. | Abnormalities, Multiple, Angelman syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, central nervous system disorder, chromosomal disorder, hereditary disease, movement disorder, nervous system disorder | Recruiting | Phase 3 | 2026-09-10 | NCT07605429 | |
| A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS) | Abnormalities, Multiple, Angelman syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, central nervous system disorder, chromosomal disorder, hereditary disease, movement disorder, nervous system disorder | Active, not recruiting | Phase 2 | 2026-09-09 | NCT07157254 | |
| Long-term Extension of GTX-102 in Angelman Syndrome | Abnormalities, Multiple, Angelman syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, central nervous system disorder, chromosomal disorder, hereditary disease, movement disorder, nervous system disorder | Active, not recruiting | Phase 3 | 2026-09-09 | NCT06415344 |