Neuromuscular Disorders Clinical Trials
All Neuromuscular Conditions
Subject Database and Specimen Repository for Neuromuscular and Neurodegenerative Disorders
Protocol ID: 23888
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Veronica Stevens, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: This is a study that involves collecting clinical information of subjects (patients with any neurological condition or their close family member) and tissue samples to develop a recruitment database and tissue bank, which will be of great value in helping the investigators learn more about various related neurological conditions.
Status: Recruiting
Determination of Standards for Maximal and Submaximal Exercise testing for Individuals with Neuromuscular Disease (CPET)
Protocol ID: 54078
NCT: N/A
PI: Dr. Tina Duong
Study Coordinator: Sabrina Salvatore, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Understanding exercise testing which will assess how heart and lungs work together to get oxygen to muscles in children and adults with muscular dystrophies
Status: Recruiting
Recruitment Notes: All clinic patients ages 9+ with diagnosed neuromuscular disorders who are able to perform testing on cycle ergometer as well as controls
Amyotrophic Lateral Sclerosis (ALS)
Clinical Procedures to Support Research in ALS (CAPTURE-ALS)
Protocol ID: 54467
NCT03489278
PI: Dr. Maxwell Greene
Study Coordinator: Raiye Hailu, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: NINDS/NIH, MDA
Purpose: Natural History Study of ALS and PLS
Status: Recruiting in clinic
A Phase 1-3 Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION363 in Amyotrophic Lateral Sclerosis Patients With Fused in Sarcoma Mutations (FUSION)
Protocol ID: 59619
NCT04768972
PI: Dr. John W. Day
Study Coordinator: Habib Mofakham Fini, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: IONIS Pharmaceuticals
Purpose: Assessing the safety and efficacy of ION363 in children with ALS
Status: Active, recruitment paused
Recruitment Notes: Confirmed genetic mutation in FUS
Becker and Duchenne muscular dystrophy (BMD/DMD)
A Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effect of EDG-5506 on Safety, Biomarkers, Pharmacokinetics, and Functional Measures in Adults and Adolescents with Becker Muscular Dystrophy (GRAND CANYON)
Protocol ID: 72069
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Habib Mofakham Fini, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Edgewise Therapeutics
Purpose: Assessing the safety and efficacy of EDG-5506-201 in adults with BMD
Status: Active, not recruiting
Recruitment Notes: Ambulatory adults with BMD ages 18-50
A Gene Delivery Study to Evaluate the Safety of and Expression From SRP-9001 in Duchenne Muscular Dystrophy (DMD) (ENDEAVOR)
Protocol ID: 59448
NCT04626674
PI: Dr. John W. Day
Study Coordinator: Elena Scheibler, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Sarepta Therapeutics, Inc
Purpose: Assessing the safety and efficacy of SRP-9001 gene therapy in individuals with DMD
Status: Active, not recruiting
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants With Duchenne Muscular Dystrophy (DMD) (ENVISION)
Protocol ID: 64248
NCT05881408
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Elena Scheibler, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Sarepta Therapeutics, Inc
Purpose: Assessing the safety and efficacy of SRP-9001 gene therapy in individuals with DMD
Status: Active, not recruiting
Long-term follow-up study for all SRP-9001 studies (EXPEDITION)
Protocol ID: 71344
NCT05967351
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Elena Scheibler, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Sarepta Therapeutics, Inc
Purpose: Long term follow-up study of safety and efficacy of SRP-9001
Status: Active, recruiting by invitation only
Recruitment Notes: Requires enrollment in previous Sarepta SRP-9001 trials
A Study to Investigate the Safety and Biodistribution of a Single Intrathecal (IT) Injection of INS1201 in Ambulatory Males With Duchenne Muscular Dystrophy (DMD) (ASCEND)
Protocol ID: 78652
NCT06817382
PI: Dr. John W. Day
Study Coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Insmed Gene Therapy LLC
Purpose: Evaluate the safety and tolerability of a single dose of INS1201 via IT administration in ambulatory male participants with DMD.
Status: Active, recruiting
Recruitment Notes: Boy ages 2-5
A Phase 1/2 Open-label, Dose Escalation and Dose Expansion Study to Evaluate the Safety, Tolerability, Pharmacodynamics, and Pharmacokinetics of Intravenous RGX-202 Gene Therapy in Males with Duchenne Muscular Dystrophy (DMD) (AFFINITY DMD)
Protocol ID: 52155
NCT05693142
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Yan Yang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: REGENXBIO
Purpose: Assessing the safety and efficacy of RGX-202 gene therapy in children with DMD
Status: Recruiting
Recruitment Notes: Boy ages 4-12, ambulatory, DMD mutations in exons 18 or higher
Charcot-Marie Tooth Disease (CMT)
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Protocol ID: 23094
NCT01193075
PI: Dr. Maxwell Greene
Study Coordinator: Lin Karman, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: NIH and MDA
Purpose: Natural history study of CMT
Status: Recruiting in clinic
A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J (CMT4J)
Protocol ID: 72459
NCT06151600
PI: Dr. John W. Day
Study Coordinator: Lin Karman, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Elpida Therapeutics
Purpose: Natural history study of CMT4J
Status: Recruiting
Myotonic dystrophy (DM)
Safety, Tolerability, PK, and PD Study of PGN-EDODM1 in Participants With Myotonic Dystrophy Type 1 (FREEDOM-DM1)
Protocol ID: 73449
NCT: NCT06204809
PI: Dr. Jacinda Sampson
Study Coordinator: Lidia Choniawko, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: PepGen INC
Purpose: Evaluate the safety and tolerability of single intravenous (IV) doses of PGN-EDODM1 administered to participants with DM1.
Status: Recruiting
Outcome validation with functional measures in myotonic dystrophy (MYOCAP/Actimyo)
Protocol ID: 62522
NCT: N/A
PI: Dr. Tina Duong
Study Coordinator: Sarah Ismail, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Outcome validation with functional measures in myotonic dystrophy
Status: Recruiting
Avidity HARBOR trial
Protocol ID: 74759
NCT: NCT06411288
PI: Dr. John W. Day
Study Coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences
Purpose: Assessing the safety and efficacy of Delpacibart etedesiran in people with DM1
Status: Recruiting soon
Recruitment Notes: Ambulatory individuals with DM1 ages 16-65 with hand myotonia
A Phase 1/2, Randomized, Double-blind, Placebo‑controlled Single- and Multiple‑dose Escalation Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of VX‑670 in Adult Subjects with Myotonic Dystrophy Type 1 (GALILEO)
Protocol ID: 73893
NCT: NCT06185764
PI: Dr. Jacinda Sampson
Study Coordinator: Susan Thomas, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Vertex
Purpose: Evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 at different single and multiple doses in participants with DM1.
Status: Active, recruitment on hold
Facioscapulohumeral Muscular Dystrophy (FSHD)
Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
Protocol ID: 57072
NCT04635891
PI: Dr. John W. Day
Study Coordinator: Sabrina Salvatore, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: NIH and MDA
Purpose: Motor Outcomes to Validate Evaluations in FSHD
Status: Recruiting
Phase 1/2 Study of AOC 1020 in Adults With Facioscapulohumeral Muscular Dystrophy (FSHD) (FORTITUDE)
Protocol ID: 67690
NCT05747924
PI: Dr. John W. Day
Study Coordinator: Susan Thomas, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences
Purpose: Assessing the safety and efficacy of AOC-1020 in adults with FSHD
Status: Active, not recruiting
Recruitment Notes: Adults with FSHD ages 18-65
GNE myopathy
Observational study of adults with GNE myopathy
Protocol ID: 23888
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Sabrina Salvatore, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Natural history study and development of improved measures of muscle involvement of GNE myopathy in adults
Status: Recruiting
Recruitment Notes: Adults with GNE ages 18-65
IBM
A Study to Evaluate the Efficacy and Safety of ABC008 for Inclusion Body Myositis
Protocol ID: 68761
NCT05721573
PI: Dr. Neelam Goyal
Study Coordinator: Raiye Hailu, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Abcuro, Inc.
Purpose: Assessing the safety and efficacy of ABC008 in adults with IBM
Status: Active, not recruiting
Recruitment Notes: Ambulatory adults with IBM age 40+
Myasthenia Gravis (MG)
An Open-Label Uncontrolled Multicenter Study to Evaluate the Pharmacokinetics,Pharmacodynamics, Safety and Activity of Nipocalimab in Children Aged 2 to less than 18 years with Generalized Myasthenia Gravis
Protocol ID: 64037
NCT05265273
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Yan Yang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Janssen
Purpose: Assessing the safety and efficacy of Nipocalimab in children with gMG
Status: Recruiting
Recruitment Notes: Children with gMG ages 6-18 with suboptimal response to current stable therapy
Anti-CD19 CAR T Cells in Refractory Generalized Myasthenia Gravis
NCT06193889
PI: Dr. Srikanth Muppidi and Dr. Everett Meyer
Sponsor: Kyverna Therapeutics, Inc
Study Coordinator: Susan Thomas, NeuromuscularResearch@stanford.edu
Status: Active, recruitment paused
Pompe disease (PD)
Pompe Disease Registry
Protocol ID: 12372
NCT00231400
PI: Dr. John W. Day
Study Coordinator: Emilio “Milo” Gonzalez, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Genzyme/Sanofi
Purpose: To collect information on the subjects with rare diseases like Pompe Disease and other lysosomal storage disorders longitudinally
Status: All Stanford patients diagnosed with Pompe disease
Recruitment Notes: All Stanford patients diagnosed with Pompe disease
Spinal muscular atrophy (SMA)
A Long-Term Extension Study of Nusinersen (BIIB058) Administered at Higher Doses in Participants With Spinal Muscular Atrophy Who Previously Participated in an Investigational Study With Nusinersen (ONWARD)
Protocol ID: 59527
NCT04729907
PI: Dr. John W. Day
Study Coordinator: Susan Thomas, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Assessing the long term safety and efficacy of higher doses of Spinraza in SMA
Status: Active, not recruiting
A Study to Evaluate Higher Dose (HD) Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy Previously Treated With Risdiplam (ASCEND)
Protocol ID: 62798
NCT05067790
PI: Dr. John W. Day
Study Coordinator: Lidia Choniawko, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Assessing safety and efficacy of higher dose of Spinraza in SMA
Status: Active, not recruiting
Recruiting Notes: Previous treatment with Evrysdi or treatment-naive, non-ambulatory ages 15 to 50
iSMAC/PNCR
Protocol ID: 31140
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Emilio “Milo” Gonzalez, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: SMA Foundation, CureSMA, Biogen
Purpose: To study the natural history of Spinal Muscular Atrophy to help with clinical trials in future
Status: Recruiting in clinic
Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab (ONYX)
Protocol ID: 68228
NCT05626855
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Elena Scheibler, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Scholar Rock
Purpose: Long term safety and efficacy of Apitegromab
Status: Active, not recruiting
A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101
Protocol ID: 52085
NCT05626855
PI: Dr. John W Day
Study Coordinator: Wendy Ao, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avexis/Novartis
Purpose: Assessing the long term effects of AVXS-101
Status: Active, not recruiting
Adult SMA Exploratory study (ASE)
Protocol ID: 55518
NCT: N/A
PI: Dr. Tina Duong
Study Coordinator: Raiye Hailu, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Observational study and MRI of adults with SMA clinically treated with nusinersen or risdiplam
Status: Recruiting
Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy (SYNAPSE-SMA)
Protocol ID: 69319
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Lidia Choniawko, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: NMD Pharma
Purpose: Assessing safety and efficacy of NMD670 in ambulatory adults with SMA
Status: Active, recruitment on hold
Recruiting Notes: Ambulatory adults with SMA3 ages 18-75
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy (HINALEA 2)
Protocol ID: 74740
NCT: NCT05861999
PI: Dr. John W. Day
Study Coordinator: Lidia Choniawko, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Roche
Purpose: Evaluate the effectiveness and safety of risdiplam administered in pediatric participants with SMA and 2 SMN2 copies who previously received onasemnogene abeparvovec and experience a plateau or decline in function.
Status: Recruiting
Recruiting Notes: SMA type 2, ages <2
Development and Validation for the Adapted Test of Neuromuscular Disorders (ATEND), a Functional Motor Outcome Measure
Protocol ID: 58208
NCT: NA
PI: Dr. Tina Duong
Study coordinator: Veronica Stevens, NeuromuscularResearch@stanford.edu, 650-725-4341
Purpose: This is a multi-center, prospective, observational study aimed to develop and validate a wheelchair based functional motor outcome measure for chronic, weak, non-ambulatory individuals diagnosed with a neuromuscular disease.
Status: Active