Phelan-McDermid syndrome
Phelan-McDermid syndrome
Explore linked clinical trials. Standard reference: MONDO:00116528 results ยท Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome | Phelan-McDermid syndrome | Recruiting | Phase 3 | 2026-09-28 | NCT07281079 | |
| An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome | Phelan-McDermid syndrome | Recruiting | Phase 3 | 2026-09-21 | NCT07593391 | |
| 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 | |
| JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency | Phelan-McDermid syndrome | Recruiting | Phase 1 / Phase 2 | 2026-09-03 | NCT06662188 | |
| Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome | Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Phelan-McDermid syndrome, Signs and Symptoms, autism spectrum disorder, intellectual disability, nervous system disorder, neurodevelopmental disorder, pervasive developmental disorder, psychiatric disorder | Active, not recruiting | Not stated | 2026-08-06 | NCT02461420 | |
| RB001 Gene Therapy Study in Children With SHANK3-related Phelan-McDermid Syndrome (PMS) | Phelan-McDermid syndrome | Active, not recruiting | Phase 1 | 2026-07-28 | NCT07014020 | |
| Long-Term Follow-Up Study for RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS) | Phelan-McDermid syndrome | Enrolling by invitation | Phase 1 | 2026-07-13 | NCT07690527 | |
| 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 |