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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway ImpairmentAbnormalities, 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, overnutritionActive, not recruitingPhase 1 / Phase 22026-10-09NCT06239116
Observational Study of VYKAT™ XR in Patients With Prader-Willi SyndromeAbnormalities, 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, overnutritionEnrolling by invitationNot stated2026-10-08NCT07450664
Impact of Bright Light Therapy on Prader-Willi SyndromeAbnormalities, 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 disorderActive, not recruitingNot applicable2026-10-06NCT05939453
Regulating Together for Prader-Willi Syndrome: A Group Behavioral Therapy for Emotion DysregulationAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, 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, anxiety disorder, chromosomal disorder, depressive disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutrition, psychiatric disorderRecruitingNot applicable2026-09-02NCT07607730
A Study of Pitolisant in Patients With Prader-Willi SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disorders of Excessive Somnolence, Dyssomnias, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Prader-Willi syndrome, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutrition, psychiatric disorder, sleep-wake disorderRecruitingPhase 32026-08-25NCT06366464
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 sclerosisEnrolling by invitationNot applicable2026-07-13NCT03836300
The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and ProbioticsAbnormalities, 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, overnutritionRecruitingNot applicable2026-07-06NCT05791604
Early Check: Expanded Screening in Newborns3-hydroxy-3-methylglutaric aciduria, 3-hydroxyacyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-phosphoglycerate dehydrogenase deficiency, AGAT deficiency, Abnormalities, Multiple, Adrenal hyperplasia, congenital, type 5, Adrenoleukodystrophy, Neonatal, Angelman syndrome, Aortic Stenosis, Supravalvular, Arrhythmias, Cardiac, Barth syndrome, Bone Diseases, Developmental, Bone Diseases, Endocrine, Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Canavan disease, Cardiac Conduction System Disease, Cardiovascular Abnormalities, Chronic Disease, Citrullinemia 1, Collagen Diseases, Congenital Abnormalities, Congenital Hyperinsulinism, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Digestive System Diseases, Disease Attributes, Duchenne muscular dystrophy, Dwarfism, Dyslipidemias, Epilepsies, Myoclonic, Epilepsy, Generalized, Epileptic Syndromes, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fructose Metabolism, Inborn Errors, G6PD deficiency, Glycogen Storage Disease, Type IXA2, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 4, Hyperphenylalaninemia, BH4-Deficient, B, Hypophosphatemia, Familial, Imprinting Disorders, Infant, Newborn, Diseases, Jervell and Lange-Nielsen syndrome, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 2, Krabbe disease, Leber congenital amaurosis 2, Leukoencephalopathies, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, MPI-congenital disorder of glycosylation, Male Urogenital Diseases, Maple syrup urine disease, type 1A, Maple syrup urine disease, type 1B, Maple syrup urine disease, type 2, Menkes disease, Methylmalonic aciduria cblB type, Mucopolysaccharidosis I, Mucopolysaccharidosis III, Mucopolysaccharidosis Type IV A, Muscular Disorders, Atrophic, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Niemann-Pick disease, Niemann-Pick disease type A, Niemann-Pick disease type C, Niemann-Pick disease, type C1, Niemann-Pick disease, type C2, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Pitt-Hopkins syndrome, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rett syndrome, Schnyder corneal dystrophy, Sex Chromosome Disorders, Skin and Connective Tissue Diseases, Smith-Lemli-Opitz syndrome, Stickler syndrome type 1, Stickler syndrome type 2, Stress Disorders, Traumatic, Sulfatidosis, Tyrosinemia, Type I, Urogenital Abnormalities, Urogenital Diseases, Usher syndrome type 1B, Usher syndrome type 1C, Usher syndrome, type 1C, Usher syndrome, type 1F, Ventricular Outflow Obstruction, Waardenburg Syndrome, Type 2E, Waardenburg syndrome, Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 2A, Wilson disease, Wolman disease, X-Linked Combined Immunodeficiency Diseases, X-linked Alport syndrome, X-linked disease, X-linked hypophosphatemic rickets, acrodermatitis enteropathica, acute stress disorder, adenine phosphoribosyltransferase deficiency, albinism, anemia, aortic valve disorder, aortic valve stenosis, apparent mineralocorticoid excess, arginase deficiency, argininosuccinic aciduria, autosomal recessive Alport syndrome, basal ganglia disorder, beta thalassemia, beta-ketothiolase deficiency, biotin-responsive basal ganglia disease, biotinidase deficiency, blood coagulation disease, blood platelet disease, bone disorder, brain disorder, calcium metabolic disease, carbamoyl phosphate synthetase I deficiency disease, cardiovascular disorder, carnitine palmitoyl transferase 1A deficiency, carnitine palmitoyltransferase II deficiency, carnitine-acylcarnitine translocase deficiency, central nervous system disorder, cerebrotendinous xanthomatosis, cholesteryl ester storage disease, chromosomal disorder, chronic granulomatous disease, citrullinemia, coagulation protein disease, combined immunodeficiency due to ZAP70 deficiency, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect 2, congenital heart disease, congenital hypothyroidism, congenital isolated adrenocorticotropic hormone deficiency, connective tissue disorder, creatine transporter deficiency, cutaneous mucinosis, cystic fibrosis, cystinosis, demyelinating disease, diabetes mellitus, disease, disorder of glycogen metabolism, disorder of pilosebaceous unit, dopa-responsive dystonia due to sepiapterin reductase deficiency, encephalopathy due to GLUT1 deficiency, endocrine system disorder, epilepsy, epilepsy, early-onset, vitamin B6-dependent, epithelial neoplasm, eye disorder, factor VII deficiency, factor X deficiency, familial hemolytic anemia, familial isolated deficiency of vitamin E, fragile X syndrome, fructose-1,6-bisphosphatase deficiency, galactosemia, glucose metabolism disease, glutaryl-CoA dehydrogenase deficiency, glycogen storage disease I, glycogen storage disease II, glycogen storage disease IXb, glycogen storage disease IXc, glycogen storage disease Ib, guanidinoacetate methyltransferase deficiency, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemophilia A, hemophilia B, hemorrhagic disease, hereditary disease, hereditary fructose intolerance, hereditary neoplastic syndrome, hereditary nephritis, hereditary skin disorder, histiocytosis, holocarboxylase synthetase deficiency, homocystinuria, homocystinuria due to methylene tetrahydrofolate reductase deficiency, hyperammonemia due to N-acetylglutamate synthase deficiency, hyperhomocysteinemia, hyperinsulinemic hypoglycemia, familial, 2, hyperinsulinism, hyperinsulinism-hyperammonemia syndrome, hypoglycemia, hypophosphatasia, hypophosphatemia, hypophosphatemic rickets, hypopigmentation of the skin, hypothyroidism, hypothyroidism due to TSH receptor mutations, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inherited blood coagulation disorder, inherited hemoglobinopathy, inherited neurodegenerative disorder, intellectual disability, isovaleric acidemia, kidney disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, maturity-onset diabetes of the young type 4, medium chain acyl-CoA dehydrogenase deficiency, metabolic disease, metachromatic leukodystrophy, methylcobalamin deficiency type cblE, methylmalonic aciduria and homocystinuria, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria, cblA type, mitochondrial trifunctional protein deficiency, motor neuron disorder, movement disorder, mucopolysaccharidosis, mucopolysaccharidosis type 1, mucopolysaccharidosis type 2, mucopolysaccharidosis type 3A, mucopolysaccharidosis type 4, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, multiple carboxylase deficiency, multiple endocrine neoplasia, multiple endocrine neoplasia type 2B, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, neonatal severe primary hyperparathyroidism, neoplasm, nephritis, nervous system disorder, neurodegenerative disease, neuroepithelial neoplasm, neuromuscular disease, non-Langerhans cell histiocytosis, nutritional deficiency disease, nutritional disorder, obesity disorder, ocular cancer, oculocutaneous albinism, optic choroid disorder, ornithine aminotransferase deficiency, ornithine carbamoyltransferase deficiency, ornithine translocase deficiency, overnutrition, pancreas disorder, pancreatic agenesis 1, permanent neonatal diabetes mellitus, phagocyte bactericidal dysfunction, phenylketonuria, phosphorus metabolism disease, pituitary hormone deficiency, combined, 1, platelet storage pool deficiency, post-traumatic stress disorder, primary hyperoxaluria type 1, primary hyperoxaluria type 2, primary hyperoxaluria type 3, primitive neuroectodermal tumor, propionic acidemia, pseudohypoaldosteronism, pseudohypoaldosteronism type 1, psychiatric disorder, pyridoxal phosphate-responsive seizures, pyridoxine-dependent epilepsy, renal tubular transport disease, respiratory system disorder, retinal cancer, retinal disorder, retinoblastoma, riboflavin transporter deficiency, rickets, severe combined immunodeficiency, severe combined immunodeficiency due to DCLRE1C deficiency, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, sickle cell disease, skin disorder, skin pigmentation disorder, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, steroid inherited metabolic disorder, sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, thalassemia, thyroid dyshormonogenesis 2A, thyroid dyshormonogenesis 3, thyroid dyshormonogenesis 5, thyroid dyshormonogenesis 6, thyroid gland disorder, transcobalamin II deficiency, transient neonatal diabetes mellitus, tuberous sclerosis 1, tuberous sclerosis 2, tyrosine hydroxylase deficiency, tyrosinemia, urea cycle disorder, urinary system disorder, uveal disorder, very long chain acyl-CoA dehydrogenase deficiency, vitamin D deficiency, vitamin deficiency disorder, von Willebrand disease (hereditary or acquired), von Willebrand disease 3, xanthomatosisActive, not recruitingNot stated2026-07-01NCT03655223
A Study of CSTI-500 in Patients With Prader-Willi SyndromeAbnormalities, 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, overnutritionRecruitingPhase 22026-05-15NCT07348601
A Clinical Evaluation of Non-Invasive Vagus Nerve Stimulation for Temper Outbursts in People With PWSAbnormalities, 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, overnutritionActive, not recruitingPhase 32026-04-06NCT06144645
A Study of Pitolisant in Participants With Prader-Willi SyndromeAbnormalities, 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, overnutritionEnrolling by invitationPhase 32026-03-17NCT07219485
Physical Activity and Community EmPOWERment Project46 XY differences of sex development, Abnormalities, Multiple, Aortic Stenosis, Supravalvular, Bone Diseases, Developmental, Cardiovascular Abnormalities, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Cri-du-chat syndrome, De Lange Syndrome, Down syndrome, Eye Abnormalities, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Imprinting Disorders, Male Urogenital Diseases, Musculoskeletal Abnormalities, Neoplasms by Histologic Type, Neoplasms by Site, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Rubinstein-Taybi syndrome, Sex Chromosome Disorders, Signs and Symptoms, Urogenital Abnormalities, Urogenital Diseases, Urogenital Neoplasms, WAGR syndrome, Williams syndrome, Wilms tumor, X-linked disease, aniridia, aortic valve disorder, aortic valve stenosis, autism spectrum disorder, autism, susceptibility to, X-linked 2, benign urinary system neoplasm, bone disorder, cardiovascular disorder, chromosomal disorder, congenital heart disease, disorder of sexual differentiation, dysostosis, endocrine system disorder, eye disorder, fragile X syndrome, gonadal disorder, heart disorder, heart valve disorder, hereditary disease, hereditary neoplastic syndrome, inherited neurodegenerative disorder, intellectual disability, iris disorder, kidney cancer, kidney disorder, mixed neoplasm, musculoskeletal system disorder, neoplasm, nervous system disorder, neurodevelopmental disorder, nutritional disorder, obesity disorder, overnutrition, pervasive developmental disorder, psychiatric disorder, trisomy 13, urinary system disorder, uveal disorderRecruitingNot applicable2026-02-23NCT06740162
A Study of Setmelanotide in Patients With Prader-Willi SyndromeAbnormalities, Multiple, Body Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, 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, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutritionActive, not recruitingPhase 22026-02-12NCT06772597
IDMet (RaDiCo Cohort) (RaDiCo-IDMet)Abnormalities, Multiple, Angelman syndrome, Beckwith-Wiedemann syndrome, Bone Diseases, Metabolic, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Craniofacial Abnormalities, Dwarfism, Imprinting Disorders, Musculoskeletal Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Prader-Willi syndrome, Silver-Russell syndrome, Temple syndrome, bone disorder, calcium metabolic disease, central nervous system disorder, chromosomal disorder, endocrine system disorder, gonadal disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, intellectual disability, metabolic disease, movement disorder, multiple congenital anomalies due to 14q32.2 maternally expressed gene defect, musculoskeletal system disorder, nervous system disorder, nutritional disorder, obesity disorder, overnutrition, paternal uniparental disomy of chromosome 14, precocious puberty, pseudohypoparathyroidism, transient neonatal diabetes mellitusRecruitingNot stated2026-02-12NCT05945576
Institutional Registry of Rare DiseasesAbnormalities, Multiple, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Ciliopathies, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cushing syndrome, Digestive System Abnormalities, Digestive System Diseases, Disease Attributes, Eosinophilia, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Gaucher disease, Hemic and Lymphatic Diseases, Hereditary Complement Deficiency Diseases, Hirschsprung disease, Hypersensitivity, Delayed, Hypersensitivity, Immediate, Immunoglobulin G4-Related Disease, Imprinting Disorders, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Mast Cell Activation Disorders, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Germ Cell and Embryonal, Neoplasms, Multiple Primary, Neoplasms, Nerve Tissue, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Primary Immunodeficiency Diseases, Rare Diseases, Skin Abnormalities, Skin and Connective Tissue Diseases, Urogenital Abnormalities, Urogenital Diseases, Wilson disease, adrenal gland disorder, adrenal gland hyperfunction, adrenogenital syndrome, amyloidosis, angioedema, angiomatosis, aortic valve disorder, aortic valve stenosis, autoimmune disease, basal ganglia disorder, brain disorder, cardiomyopathy, cardiovascular disorder, central nervous system disorder, chromosomal disorder, colonic disorder, congenital adrenal hyperplasia, connective tissue neoplasm, demyelinating disease, digestive system disorder, disorder of sexual differentiation, ectodermal dysplasia syndrome, endocrine system disorder, eosinophilic esophagitis, esophageal disorder, esophagitis, gastroenteritis, gonadal disorder, heart disorder, heart valve disorder, hematologic disorder, hemorrhagic disease, hereditary angioedema, hereditary disease, hereditary hemorrhagic telangiectasia, hereditary neoplastic syndrome, hereditary skin disorder, hypertensive disorder, hypertrophic cardiomyopathy, immune system disorder, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inflammatory bowel disease, inherited neurodegenerative disorder, intellectual disability, intestinal disorder, leukocyte disorder, liver disorder, lung disorder, lymphatic system disorder, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, malignant endocrine neoplasm, mastocytosis, megacolon, metabolic disease, movement disorder, multiple endocrine neoplasia, neoplasm, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuroendocrine neoplasm, nutritional disorder, obesity disorder, overnutrition, paraganglioma, pheochromocytoma, primitive neuroectodermal tumor, proteostasis deficiencies, pulmonary hypertension, respiratory system disorder, sarcoidosis, skin disorder, skin vascular disease, sphingolipidosis, steroid inherited metabolic disorder, subvalvular aortic stenosis, telangiectasis, urticaria, vascular disorder, vascular hemostatic disease, vascular malformation, von Hippel-Lindau diseaseRecruitingNot stated2026-01-14NCT06573723
A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of 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, overnutritionNot yet recruitingPhase 22025-12-05NCT07266324
Cerebellar TMS and Satiety in Prader-Willi SyndromeAbnormalities, 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, overnutritionRecruitingNot applicable2025-12-05NCT05938543
Tirzepatide in PWS, HO and GNSOAbnormalities, 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, 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, overnutritionRecruitingPhase 42025-09-16NCT06901245
Oromyofunctional Therapy: a Rehabilitation Program for OSA in Children With Down Syndrome and Prader-Willi SyndromeAbnormalities, Multiple, Apnea, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Down syndrome, Dyssomnias, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Prader-Willi syndrome, Respiration Disorders, Sleep Disorders, Intrinsic, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, obstructive sleep apnea syndrome, overnutrition, respiratory system disorder, sleep apnea syndrome, sleep-wake disorderRecruitingNot applicable2025-08-14NCT07122505
Brain Olfactory Pathways in Prader-Willi SyndromeAbnormalities, 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, overnutritionNot yet recruitingNot applicable2025-06-05NCT07006207
Autistic Symptomatology and Sensory Profile in Children With Prader-Willi SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Prader-Willi syndrome, autism spectrum disorder, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, neurodevelopmental disorder, nutritional disorder, obesity disorder, overnutrition, pervasive developmental disorder, psychiatric disorderRecruitingNot stated2025-05-08NCT06877715
Open-Label Extension Study of DCCR in Patients With Prader-Willi SyndromeAbnormalities, 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, overnutritionActive, not recruitingPhase 32025-04-02NCT05701774
Effects of Transcutaneous Vagus Nerve Stimulation on Emotion Regulation and Executive Functioning in Prader-Willi SyndromeAbnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, 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, chromosomal disorder, depressive disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutritionRecruitingNot applicable2024-12-06NCT06720571
Biological Age Assessment in Adults With Prader-Willi Syndrome (ETABIOLPWS)Abnormalities, Multiple, Body Weight, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Imprinting Disorders, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Overweight, Pathological Conditions, Signs and Symptoms, Prader-Willi syndrome, Signs and Symptoms, chromosomal disorder, hereditary disease, intellectual disability, nervous system disorder, nutritional disorder, obesity disorder, overnutritionActive, not recruitingNot stated2024-10-02NCT05778032
Register of Patients With Prader-Willi SyndromeAbnormalities, 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, overnutritionRecruitingNot stated2024-02-20NCT02829684