348 completed, 73 recruiting, 72 terminated, 60 active not recruiting. 657 Phase 2, 167 Phase 1, 74 Phase 3.
Follow Heredodegenerative Disorders, Nervous System: new trials by email Literature Review of Heredodegenerative Disorders, Nervous System trials Research Report on Heredodegenerative Disorders, Nervous System
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 |
|---|---|---|---|---|---|---|
| Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome NTI164, Placebo - RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome | Phase 2 / Phase 3 | Not yet recruiting | Fenix Innovation Group | 40 | 2027-07-01 | 2026-09-09 |
| Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A scAAV1.tMCK.NTF3 - Charcot-Marie-Tooth Neuropathy Type 1A | Phase 1 / Phase 2 | Withdrawn | Nationwide Children's Hospital | 2027-04-01 | 2026-07-29 | |
| Efficacy of Mirdametinib Alone or Combination With Radiotherapy for Germline and Sporadic NF1-Altered High-Grade Glioma mirdametinib with radiation, mirdametinib - Neurofibromatosis 1 (NF1) | Phase 2 | Not yet recruiting | University of Alabama at Birmingham | 55 | 2027-01-01 | 2026-10-05 |
| Combination of Avutometinib and Defactinib for Treatment of Relapsed, Refractory, Metastatic, or Unresectable Malignant Peripheral Nerve Sheath Tumor avutometinib capsule + defactinib tablet - MPNST (Malignant Peripheral Nerve Sheath Tumor) | Phase 2 | Not yet recruiting | Girish Dhall, MD | 25 | 2027-01-01 | 2026-10-28 |
| Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia Intravenous infusion, Intrathecal injection, umbilical cord mesenchymal stem cell - Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2 | Phase 2 | Not yet recruiting | Sclnow Biotechnology Co., Ltd. | 45 | 2026-12-31 | 2026-04-23 |
| Aspirin and PAClitaxel in Head & Neck Squamous Cell Carcinoma Aspirin, Paclitaxel - Head and Neck (HNSCC), Head and Neck Squamous Cell Carcinoma (HNSCC) - Recurrent/Metastatic (R/M) | Phase 2 | Not yet recruiting | Washington University School of Medicine | 40 | 2026-12-31 | 2026-10-28 |
| A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS Codabakalner, Placebo - Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD) | Phase 2 / Phase 3 | Not yet recruiting | Spinogenix | 120 | 2026-12-01 | 2026-10-09 |
| Selumetinib for NF2-Related Schwannomatosis Selumetinib - Neurofibromatosis Type 2, NF2 | Phase 2 | Not yet recruiting | Beijing Tiantan Hospital | 20 | 2026-12-01 | 2026-10-28 |
| Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome SRX246, Placebo - Aggressive Behavior in Fragile X Syndome | Phase 2 | Not yet recruiting | Azevan Pharmaceuticals | 80 | 2026-12-01 | 2026-10-30 |
| GV101 for Friedreich's Ataxia (FA) Treatment GV101, Placebo - Friedreich's Ataxia | Phase 2 | Not yet recruiting | Graviton Bioscience Corporation | 48 | 2026-11-01 | 2026-10-15 |
| A Trial of ALN-6457 in Adult Participants With Symptomatic Prion Disease (PrD) ALN-6457 - Prion Disease | Phase 1 / Phase 2 | Not yet recruiting | Regeneron Pharmaceuticals | 60 | 2026-10-23 | 2026-09-22 |
| Safety and Efficacy Study of GEB-101 Injection in Subjects With TGFBI-related Corneal Dystrophy GEB-101 Injection - Hereditary Corneal Dystrophy, Corneal Abnormality | Phase 1 / Phase 2 | Not yet recruiting | GenEditBio Limited | 30 | 2026-10-01 | 2026-09-10 |
| Neoadjuvant Pembrolizumab and Porustobart in Resectable pMMR/MSS Colon Cancer Pembrolizumab, Porustobart - Colon Cancer | Phase 2 | Recruiting | Solstice Oncology, Inc. | 100 | 2026-09-30 | 2026-10-27 |
| A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD) PM577a - Wilson Disease, Wilson's Disease | Phase 1 / Phase 2 | Recruiting | Prime Medicine, Inc. | 42 | 2026-09-01 | 2026-10-01 |
| Safety and Efficacy of AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy (RESTOR-1) AV078, Placebo - Tuberous Sclerosis Complex, Epilepsy | Phase 2 | Not yet recruiting | Aeovian Pharmaceuticals, Inc. | 42 | 2026-09-01 | 2026-09-29 |
| A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome Rett-T, Placebo - Rett Syndrome | Phase 2 | Recruiting | Holland Bloorview Kids Rehabilitation Hospital | 35 | 2026-08-24 | 2026-09-02 |
| NORTHERA (DROXIDOPA) for Dysautonomia in Pediatric Survivors of Menkes Disease Droxidopa Oral Product, Placebo Control - Menkes Disease | Phase 1 / Phase 2 | Recruiting | Stephen G. Kaler | 6 | 2026-08-10 | 2026-10-05 |
| Trial of Selumetinib and Bromodomain Inhibitor With Durvalumab for Sarcomas Selumetinib + ZEN-3694 ± Durvalumab - MPNST, NF1 | Phase 2 | Recruiting | University of Alabama at Birmingham | 41 | 2026-08-04 | 2026-08-24 |
| Gene Therapy Trial for CLN6 Batten Disease scAAV9.CB.CLN6 (dose: 1.5E14 vector genomes) - CLN6, Batten Disease | Phase 1 / Phase 2 | Not yet recruiting | The Charlotte and Gwenyth Gray Foundation | 12 | 2026-08-01 | 2026-05-14 |
| Luvometinib in Combination With Serplulimab for NF2-Related Tumors Luvometinib, Serplulimab - NF2-related Schwannomatosis, NF2 | Phase 1 / Phase 2 | Not yet recruiting | Beijing Tiantan Hospital | 30 | 2026-07-31 | 2026-07-16 |
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Huntington Disease (76) · Hereditary Sensory and Autonomic Neuropathies (75) · Neurofibromatosis 1 (55) · Fragile X Syndrome (48) · Tourette Syndrome (45) · Friedreich Ataxia (36) · Tuberous Sclerosis (35) · Mucopolysaccharidosis II (31) · Rett Syndrome (26) · Neurofibroma, Plexiform (24) · Neurofibromatosis 2 (24) · Bulbo-Spinal Atrophy, X-Linked (23) · Myotonic Dystrophy (20) · Spinocerebellar Degenerations (19) · Adrenoleukodystrophy (18)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (657) · Nervous System Diseases (644) · Genetic Diseases, Inborn (640) · Neurodegenerative Diseases (525) · Central Nervous System Diseases (296) · Brain Diseases (254) · Neuromuscular Diseases (231) · Neurologic Manifestations (197) · Congenital Abnormalities (188) · Neoplasms (174) · Peripheral Nervous System Diseases (171) · Nutritional and Metabolic Diseases (157) · Mental Disorders (156) · Metabolic Diseases (154)
AZD 6244 (17) · Everolimus (17) · Sirolimus (14) · Alpelisib (7) · Bevacizumab (7) · idursulfase (7) · pembrolizumab (7) · valbenazine (7) · 4-phenylbutyric acid (6) · Cetuximab (6) · Fulvestrant (6) · alpha-tocotrienol quinone (6) · mavoglurant (6) · Acetylcysteine (5) · Creatine (5)
Novartis Pharmaceuticals (19) · National Cancer Institute (NCI) (13) · NYU Langone Health (11) · Children's Hospital Medical Center, Cincinnati (10) · Pfizer (10) · University of Alabama at Birmingham (10) · Massachusetts General Hospital (8) · Neurocrine Biosciences (8) · Hoffmann-La Roche (7) · Assistance Publique - Hôpitaux de Paris (6) · National Institute of Neurological Disorders and Stroke (NINDS) (6) · Shire (6) · University of Rochester (6) · AstraZeneca (5) · Beijing Tiantan Hospital (5)
United States (402) · United Kingdom (100) · France (98) · Canada (88) · Germany (88) · Spain (88) · Italy (79) · Australia (67) · Netherlands (43) · China (38) · Belgium (33) · Poland (27) · Brazil (25) · Denmark (24) · New Zealand (20)
Brigitte C Widemann, M.D. (5) · Elizabeth Berry-Kravis, MD, PhD (4) · Paul Orchard, MD (4) · David Lynch, MD, PhD (3) · Diana Rosas, MD, MS (3) · Girish Dhall, MD (3) · Matthias A Karajannis, MD, MS (3)
PMID 36463457, PMID 38489195, PMID 28029918, PMID 29480210, PMID 32187457, PMID 32250312, PMID 33395098, PMID 37460385, PMID 15683544, PMID 17105749, PMID 21586746, PMID 21996156, PMID 22353803, PMID 24001701, PMID 24144615, PMID 24327518, PMID 25988365, PMID 26763495, PMID 26764156, PMID 26851632, PMID 26855682, PMID 27424289, PMID 27494299, PMID 28202705, PMID 28230061, PMID 28409229, PMID 28672195, PMID 29029679, PMID 29383130, PMID 29688815, PMID 29846250, PMID 30558645, PMID 31010905, PMID 31101621, PMID 31353964, PMID 31381524, PMID 31533931, PMID 31582003, PMID 31831767, PMID 31882719, PMID 31894292, PMID 32107748, PMID 33354735, PMID 33863389, PMID 33980287, PMID 34541874, PMID 35961250, PMID 36811812, PMID 37915038, PMID 38101904
2023 (12), 2018 (8), 2025 (7), 2014 (6), 2019 (6), 2016 (5), 2017 (5), 2009 (4), 2015 (2), N01NS42361 (2), U10CA180886 (2), 2004 (1), 2005 (1), 2008 (1), F31MH096375 (1)