8 completed, 3 recruiting, 2 active not recruiting, 2 enrolling by invitation. 7 Phase 2, 4 Phase 1, 2 Not applicable, 2 Phase 3.
Follow Phelan-McDermid Syndrome: new trials by email Literature Review of Phelan-McDermid Syndrome trials Research Report on Phelan-McDermid Syndrome
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Long-Term Follow-Up Study for RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS) RB001 - SHANK3 Haploinsufficiency, Phelan-McDermid Syndrome | Phase 1 | Enrolling by invitation | Peking University First Hospital | 8 | 2026-08-01 | 2026-07-13 |
| An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome NNZ-2591 - Phelan-McDermid Syndrome | Phase 3 | Recruiting | Neuren Pharmaceuticals Limited | 180 | 2026-06-08 | 2026-10-19 |
| A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome NNZ-2591, Placebo - Phelan-McDermid Syndrome | Phase 3 | Recruiting | Neuren Pharmaceuticals Limited | 160 | 2025-11-12 | 2026-09-28 |
| RB001 Gene Therapy Study in Children With SHANK3-related Phelan-McDermid Syndrome (PMS) RB001 - Phelan-McDermid Syndrome, SHANK3 Haploinsufficiency | Phase 1 | Active not recruiting | Peking University First Hospital | 8 | 2025-06-16 | 2026-07-28 |
| JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency JAG201 - SHANK3 Haploinsufficiency, Phelan-McDermid Syndrome | Phase 1 / Phase 2 | Recruiting | Jaguar Gene Therapy, LLC | 6 | 2024-01-07 | 2026-09-03 |
| An Open-Label Study of Oral NNZ-2591 in Phelan-McDermid Syndrome (PMS-001) NNZ-2591 - Phelan-McDermid Syndrome | Phase 2 | Completed | Neuren Pharmaceuticals Limited | 18 | 2022-08-08 | 2025-06-03 |
| A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism Growth Hormone, Saline - Phelan-McDermid Syndrome, Autism Spectrum Disorder (ASD) | Phase 2 | Completed | Icahn School of Medicine at Mount Sinai | 32 | 2022-01-19 | 2025-04-20 |
| Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS recombinant human growth hormone, Saline - Phelan-McDermid Syndrome, Growth Hormone Treatment | Phase 1 / Phase 2 | Completed | Affiliated Hospital of Jiangnan University | 6 | 2020-06-14 | 2022-10-10 |
| Q10 Ubiquinol in Autism Spectrum Disorder and in Phelan-McDermid Syndrome. Q10 Ubiquinol, Vitamin E, Multi-Vitamin B complex - Autism Spectrum Disorder, Phelan-McDermid Syndrome | Not applicable | Unknown | Antonio Persico | 200 | 2019-03-09 | 2020-03-18 |
| Parent and Infant Inter(X)Action Intervention (PIXI) Parent-Infant Inter(X)action Intervention (PIXI) - Fragile X Syndrome, Angelman Syndrome | Not applicable | Enrolling by invitation | RTI International | 120 | 2018-11-30 | 2026-07-13 |
| AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy AMO-01 - Phelan-McDermid Syndrome, Epilepsy | Phase 2 | Completed | Alexander Kolevzon | 6 | 2018-05-30 | 2025-06-27 |
| Mapping the Phenotype in Adults With Phelan-McDermid Syndrome No Intervention - Phelan-McDermid Syndrome, Autism Spectrum Disorder | Completed | Boston Children's Hospital | 24 | 2018-05-22 | 2025-02-18 | |
| Piloting Treatment With Intranasal Oxytocin in Phelan-McDermid Syndrome Oxytocin, Saline - Phelan-McDermid Syndrome | Phase 2 | Completed | Alexander Kolevzon | 18 | 2016-04-29 | 2021-12-06 |
| Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Phelan-McDermid Syndrome, Autism Spectrum Disorder | Active not recruiting | Boston Children's Hospital | 207 | 2015-05-01 | 2026-08-06 | |
| Mitochondrial Dysfunction in Phelan-McDermid Syndrome Phelan-McDermid Syndrome | Completed | University of Arkansas | 51 | 2012-05-01 | 2021-08-05 | |
| Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome) Insulin-Like Growth Factor-1 (IGF-1), Normal saline - 22q13 Deletion Syndrome, Phelan-McDermid Syndrome | Phase 2 | Completed | Icahn School of Medicine at Mount Sinai | 19 | 2012-02-01 | 2022-05-12 |
Telomeric 22q13 Monosomy Syndrome (16) · Autism Spectrum Disorder (4) · Autistic Disorder (2) · Intellectual Disability (2) · Angelman Syndrome (1) · Chromosome Deletion (1) · Developmental Disabilities (1) · DiGeorge Syndrome (1) · Down Syndrome (1) · Epilepsy (1) · Fragile X Syndrome (1) · Klinefelter Syndrome (1) · Mitochondrial Diseases (1) · Muscular Dystrophy, Duchenne (1) · Neurobehavioral Manifestations (1)
Mental Disorders (6) · Neurodevelopmental Disorders (6) · Child Development Disorders, Pervasive (5) · Nervous System Diseases (5) · Neurologic Manifestations (4) · Pathological Conditions, Signs and Symptoms (4) · Neurobehavioral Manifestations (3) · Signs and Symptoms (3) · Central Nervous System Diseases (2) · Nutritional and Metabolic Diseases (2) · 22q11 Deletion Syndrome (1) · Abnormalities, Multiple (1) · Aneuploidy (1) · Aortic Stenosis, Supravalvular (1) · Aortic Valve Disease (1)
Sodium Chloride (3) · cyclo-L-glycyl-L-2-allylproline (3) · Growth Hormone (2) · Insulin-Like Growth Factor I (1) · Long-Term Synaptic Depression (1) · Oxytocin (1) · Saline Solution (1) · Tocopherols (1) · Vitamin E (1) · mecasermin (1)
Neuren Pharmaceuticals Limited (3) · Alexander Kolevzon (2) · Boston Children's Hospital (2) · Icahn School of Medicine at Mount Sinai (2) · Peking University First Hospital (2) · Affiliated Hospital of Jiangnan University (1) · Antonio Persico (1) · Jaguar Gene Therapy, LLC (1) · RTI International (1) · University of Arkansas (1)
United States (12) · China (3) · Canada (1) · Italy (1)
Alexander Kolevzon, MD (6) · Anne Wheeler, PhD (1) · Antonio M. Persico, MD (1) · Dan Gallo, PhD (1) · James Shaw (1) · Michael J Goldenthal, Ph.D. (1) · Richard E Frye, M.D./Ph.D. (1) · YueYing Liu, Phd (1)
PMID 25685306, PMID 30396833, PMID 32107139, PMID 34593045, PMID 35395866, PMID 41450730
R01NS105845 (1), R34MH100276 (1), U54NS092090 (1)