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

Tissue Banking of Blood, Spinal Fluid or Skin Biopsy for the Research of Neurological Diseases
Protocol ID: 16472
NCT: N/A
PI: Dr. Yuen So
Study Coordinator: Shirley Paulose, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: To collect blood, spinal fluid, or skin biopsy specimens to create a tissue bank for current or future neuroscience research, which would help to learn more about various neurological conditions
Status: Recruiting

MOVR Registry
Protocol ID: 52620
NCT: N/A
PI: Dr. Jacinda Sampson
Study Coordinator: Whitney Tang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Muscular Dystrophy Association
Purpose: Observational study of neuromuscular conditions including ALS, BMD/DMD, FSHD, LGMD, Pompe and SMA
Status: Recruiting soon in clinic

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)

A Phase 1 Multiple-Ascending-Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of BIIB105 Administered Intrathecally to Adults With Amyotrophic Lateral Sclerosis With or Without Poly-CAG Expansion in the Ataxin-2 Gene
Protocol ID: 56187
NCT04494256
PI: Dr. John W. Day
Study Coordinator:  Habib Mofakham Fini, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Assessing the safety and tolerability of BIIB105 in adults with ALS
Status: Active, not recruiting
Recruitment Notes: Sporadic ALS with or without ATX2 gene mutation

Clinical Procedures to Support Research in ALS (CAPTURE-ALS)
Protocol ID: 54467
NCT03489278
PI: Dr. Yuen So
Study Coordinator:  Rabia Farooquee, 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: Veronica Stevens, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: IONIS Pharmaceuticals
Purpose: Assessing the safety and efficacy of ION363 in children with ALS
Status: Recruiting
Recruitment Notes: Confirmed genetic mutation in FUS

Expanded Access Program to ION363 FUS ALS treatment
Protocol ID: N/A
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Expanded Access Program
Status: Recruiting on case-by-case basis

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: Recruiting soon
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: Lesly Welsh, 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: Veronica Stevens, 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: Lesly Welsh, 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

Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping (EXPLORE44)
Protocol ID: 69829
NCT05670730
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences
Purpose: Assessing the safety and efficacy of AOC1044 in DMD
Status: Recruiting
Recruitment Notes: Individuals with DMD mutations amenable to exon 44 skipping, ages 7-27

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: Whitney Tang, 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: Sarah Ismail, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Elpida Therapeutics
Purpose: Natural history study of CMT4J
Status: Recruiting soon

Cystinosis myopathy

The Effect of Exercise on Muscle Dysfunction in Cystinosis
Protocol ID: 46941
NCT04071548
PI: Dr. Richard Reimer and Dr. Tina Duong
Study Coordinator:  NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Cystinosis Myopathy Foundation
Purpose: Assessing the effect of a short, high intensity interval training exercise program on individuals with cystinosis myopathy
Status: Recruiting
Recruitment Notes: Adults ≥18 years diagnosed with cystinosis myopathy

Facioscapulohumeral Muscular Dystrophy (FSHD)

Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)
Protocol ID: 57072
NCT04635891
PI: Dr. John W. Day
Study Coordinator: Veronica Stevens, 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: Sarah Ismail, 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: Emily Lien, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Abcuro, Inc.
Purpose: Assessing the safety and efficacy of ABC008 in adults with IBM
Status: Recruiting
Recruitment Notes: Ambulatory adults with IBM age 40+

Limb Girdle Muscular Dystrophy (LGMD)

An International Clinical Outcome Study of Dysferlinopathy (COS2)
Protocol ID: 51930
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Habib Mofakham Fini, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Jain Foundation
Purpose: Validation of clinical outcome measures in participants with dysferlinopathy
Status: Active, not recruiting

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
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

Myotonic dystrophy (DM)

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

Stanford brain biomarkers study
Protocol ID: TBD
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: TBD, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Characterization of neurological symptoms and biomarkers of DM1
Status: Recruiting soon
Recruitment Notes: Adults with DM1 and their unaffected family members

Avidity HARBOR trial
Protocol ID: 74759
NCT: TBD
PI: Dr. John W. Day
Study Coordinator: Tia Lum, 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

Pompe disease (PD)

Pompe Disease Registry
Protocol ID: 12372
NCT00231400
PI: Dr. John W. Day
Study Coordinator: Lesly Welsh, 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 bulbar muscular atrophy (SBMA)

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Of AJ201 In Patients with Spinal and Bulbar Muscular Atrophy (SBMA)
Protocol ID: 67773
NCT05517603
PI: Dr. John W. Day
Study Coordinator: Emily Lien, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: AnnJi
Purpose: Assessing safety and efficacy of JM17 in individuals with SBMA
Status: Active, not recruiting

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: Veronica Stevens, 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 Phase 4 Study of Nusinersen (BIIB058) Among Patients With Spinal Muscular Atrophy Who Received Onasemnogene Abeparvovec (RESPOND)
Protocol ID: 58724
NCT04488133
PI: Dr. John W. Day
Study Coordinator: Susan Thomas, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Assessing the safety and efficacy of Spinraza treatment after Zolgensma treatment
Status: Recruiting
Recruiting Notes: Previous treatment with Zolgensma

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: Emily Lien, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Assessing safety and efficacy of higher dose of Spinraza in SMA
Status: 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: Whitney Tang, 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

CureSMA registry
Protocol ID: 49895
NCT: N/A
PI: Dr. Jacinda Sampson
Study Coordinator: Whitney Tang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: CureSMA
Purpose: Clinical data registry with CureSMA
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: Ayesha Zaina, 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: Ayesha Zaina, 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: Sabrina Salvatore, 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: Recruiting
Recruiting Notes: Ambulatory adults with SMA3 ages 18-75

Development and Validation for the Adult Test of Neuromuscular Disorders (ATEND), a Functional Motor Outcome Measure
Protocol ID: 31140
NCT: N/A
PI: Dr. Tina Duong
Study Coordinator: Whitney Tang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Development and evaluation of psychometric properties of the ATEND for weaker individuals with neuromuscular disorders
Status: Recruiting
Recruiting Notes: Non-ambulatory individual in a wheelchair with diagnosis of SMA