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: Paxton Ataide, 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. This also includes a Biobank
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: Paxton Ataide, 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 (CReATe CAPTURE-ALS)
Protocol ID: 54467
NCT03489278
PI: Dr. Yuen So
Study coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Natural History Study of ALS and PLS
Status: Recruiting in clinic

A Study to Evaluate the Efficacy and Safety of Reldesemtiv in Patients With Amyotrophic Lateral Sclerosis (ALS) (COURAGE-ALS)
Protocol ID: 60403
NCT04944784
PI: Dr. Yuen So
Study coordinator: Tia Lum, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Cytokinetics
Purpose: Assessing the safety and efficacy of Reldesemtiv in adults with ALS
Status: Recruiting
Recruitment Notes: ALS symptom onset must be less than 2 years ago

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, Inc
Purpose: Assessing the safety and efficacy of ION363 in adults with FUS ALS mutation
Status: Recruiting

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 (ALSpire)
Protocol ID: 56187
NCT04494256
PI: Dr. John W. Day
Study coordinator: Habib Mofakham Fini, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen Pharmaceuticals
Purpose: Assess the safety and tolerability of BIIB105 in adults with ALS
Status: Recruiting

Becker and Duchenne Muscular Dystrophy (DMD/BMD)

Wearable Technology to Assess Gait Function in SMA and DMD
Protocol ID: 55106
NCT: N/A
PI: Dr. John W. Day
Study coordinator: Sally Dunaway Young, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Assessing Wearable Technology to Assess Gait Function in SMA and DMD
Status: Recruiting

A Gene Delivery Study to Evaluate the Safety of and Expression from SRP-9001 in Duchenne Muscular Dystrophy (DMD) (ENDEAVOR)
Protocol ID: 59527
NCT04626674
PI: Dr. John W. Day
Study coordinator: Lesly Welsh, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Sarepta Therapeutics, Inc
Purpose: Gene therapy trial testing the safety and efficacy of SRP-9001 in DMD
Status: Active, not recruiting

A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of SRP-9001 in Non-Ambulatory and Ambulatory Subjects With Duchenne Muscular Dystrophy (ENVISION)
PI: Dr. Carolina Tesi-Rocha
Study coordinator: Lesly Welsh, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Sarepta Therapeutics, Inc.
Purpose: Assessing the safety and efficacy of gene transfer therapy with SRP-9001 in older participants with DMD who are ambulatory or non-ambulatory
Status: Recruiting soon

Charcot-Marie Tooth Disease (CMT)

Inherited Neuropathies Consortium
Protocol ID: 23094
NCT01193088
PI: Dr. John W. Day
Study coordinator: Whitney Tang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: NIH and Muscular Dystrophy Association
Purpose: Examining the natural history of CMT, identifying new mutations, and determining if there are genetic modifiers altering the course of the condition
Status: Recruiting in clinic

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: Investigator Initiated
Purpose: Natural history study of FSHD to validate motor outcomes
Status: Recruiting paused

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: Ayesha Zaina, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences
Purpose: Assess the safety and efficacy of AOC 1020 in adults with FSHD
Status: Recruiting soon

GNE MYOPATHY

Observational study of adults with GNE myopathy
Protocol ID: 23888
NCT: N/A
PI: Dr. John W. Day
Study coordinator: Nicole Corso, 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

Limb Girdle Muscular Dystrophy (LGMD)

An International Clinical Outcome Study of Dysferlinopathy
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)

Study of ALXN2050 in Adult Participants With Generalized Myasthenia Gravis
Protocol ID: 65495
NCT05218096
PI: Dr. Srikanth Muppidi
Study coordinator: Emily Lien, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Alexion
Purpose: Assess the safety and efficacy of Alexion 2050 oral medication in adults with generalized MG
Status: Recruiting

MOM-M281-011/Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Nipocalimab Administered to Adults with Generalized Myasthenia Gravis
Protocol ID: 61457
NCT04951622
PI: Dr. Yuen So
Study coordinator: Yan Yang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Momenta
Purpose: Assess the safety and efficacy of Nipocalimab in adults with generalized MG
Status: Recruiting
Recruiting notes: Participants with inadequately controlled but stably maintained MG, off IVIG

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: Assess the safety and efficacy of Nipocalimab in adults with generalized MG
Status: Recruiting
Recruiting notes: Children ages 6-18 with inadequately controlled but stably maintained MG, off IVIG

A Long-Term, Single-Arm, Open-label, Multicenter Phase 3 Study to Evaluate the Safety and Tolerability of Multiple Subcutaneous Injections of Efgartigimod PH20 SC in Patients With Generalized Myasthenia Gravis
Protocol ID: 61629
NCT04818671
PI: Dr. Srikanth Muppidi
Study coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: ArgenX
Purpose: Assessing the long term effects of subcutaneous treatment with Efgartigimod PH20 SC in adults with generalized MG
Status: Active, not recruiting

Myotonic Dystrophy

END-DM1 Natural history study of myotonic dystrophy
Protocol ID: 43760
NCT03981575
PI: Dr. John W. Day
Study coordinator: Lesly Welsh, NeuromuscularResearch@stanford.edu, 650-725-4341
Purpose: Characterize baseline status and disease progression over two years in 500 DM1 patients with myotonic dystrophy type 1 (DM1)
Status: Recruiting paused
Study Criteria Notes: Adults with DM1 aged 18-70

Clinical and Genetic Characterization of Myotonic Dystrophy
Protocol ID: 22947
NCT: N/A
PI: Dr. John W. Day
Study coordinator: Whitney Tang,NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: NIH/Investigator Initiated
Purpose: This is an umbrella protocol for Myotonic Dystrophy to study various aspects of the disease
Status: Recruiting

A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents with Congenital Myotonic Dystrophy
Protocol ID: 42616
NCT03692312
PI: Dr. John W. Day
Study coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: AMO Pharmaceuticals
Purpose: Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy
Status: Active, not recruiting

Study of AOC 1001 in Adult Myotonic Dystrophy Type 1 (DM1) Patients (MARINA)
Protocol ID: 61989
NCT05027269
PI: Dr. John W. Day
Study coordinator: Tia Lum, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences, Inc.
Purpose: Assess the safety of AOC 1001 in adults with DM1
Status: Active, not recruiting

Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients (MARINA-OLE)
Protocol ID: 65924
NCT05479981
PI: Dr. John W. Day
Study coordinator: Tia Lum, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences, Inc.
Purpose: A phase 2 extension of the MARINA study assessing the long term effects of AOC 1001 in adults with DM1
Status: Recruiting by invitation only

Digital wearables study to assess walking and hand myotonia (MYOCAP)
Protocol ID: 62522
NCT: N/A
PI: Dr. John W. Day
Study coordinator: Christina Frater, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Develop and validate new methods of measuring handgrip myotonia and gait in pediatric and adult participants with DM to prepare for new clinical trials
Status: Recruiting

Pompe Disease

The Rare Disease Registry Program
Protocol ID: 12372
Sponsor: Genzyme Corporation/Sanofi
PI: Dr. Gregory Enns, Co-I: Dr. John W. Day
Study coordinator: Lesly Welsh, NeuromuscularResearch@stanford.edu, 650-725-4341
Purpose: To collect information on the subjects with rare diseases like Pompe Disease and other lysosomal storage disorders longitudinally
Status: Recruiting in clinic

A Phase 1/2, Open-Label, Ascending-Dose Clinical Study to Evaluate the Safety and Preliminary Efficacy of AT845, an AAV8-Delivered Gene Transfer Therapy in Patients With Late Onset Pompe Disease (FORTIS)
Protocol ID: 53753
NCT04174105
PI: Dr. John W. Day
Study coordinator: Veronica Stevens, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Audentes
Purpose: Evaluate the safety and efficacy of AT845 in adults with late onset Pompe disease
Status: Recruiting

Spinal and Bulbar Muscular Atrophy (SBMA)

A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Of AJ201 In Patients
Protocol ID: 67773
NCT05517603
PI: Dr. John W. Day
Study coordinator: Emily Lien, NeuromuscularResearch@stanford.edu , 650-725-4341
Sponsor: AnnJi Pharmaceutical Co., Ltd.
Purpose: Assessing the safety and efficacy of AJ201 in adults with SBMA
Status: Recruiting

Spinal Muscular Atrophy (SMA)

Clinical Study of Spinal Muscular Atrophy (PNCR/iSMAC study)
Protocol ID: 31140
NCT00443066
PI: Dr. John W. Day
Study coordinator: Whitney Tang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsors: Spinal Muscular Atrophy Foundation, CureSMA
Purpose: To study the natural history and treatment effects in SMA
Status: Recruiting in clinic

SRK-015-002: Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK-015 in Patients with Later-Onset Spinal Muscular Atrophy (TOPAZ)
Protocol ID: 49533
NCT 03921528
Sponsor: Scholar Rock
PI: Dr. Carolina Tesi Rocha
Coordinator: Tia Lum, NeuromuscularResearch@stanford.edu, 650-725-4341
Purpose: Study the safety and efficacy of the study medication in patients with late onset Spinal Muscular Atrophy
Status: Active, not recruiting

Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam (SAPPHIRE)
Protocol ID: 64058
NCT05156320
PI: Dr. Carolina Tesi-Rocha
Study coordinator: Ayesha Zaina, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Scholar Rock
Purpose: Assess the safety and efficacy of apitegromab in children and adults with later-onset SMA currently receiving nusinersen or risdiplam treatment
Status: Recruiting

Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab-ONYX (ONYX)
Protocol ID: 68228
NCT05626855
PI: Dr. Carolina Tesi-Rocha
Study coordinator: Ayesha Zaina, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Scholar Rock
Purpose: Assess the long term effects of apitegromab in children and adults with late-onset SMA
Status: Recruiting soon by invitation only

Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy (DEVOTE)
Protocol ID: 53421
NCT04089566
PI: Dr. John W. Day
Study coordinator: Lesly Welsh, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen Pharmaceuticals
Purpose: Assessing the efficacy of higher doses of nusinersen in SMA
Status: Recruiting cohort B (<7 months old)

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 Pharmaceuticals
Purpose: Assess the safety and efficacy of Spinraza treatment after Zolgensma treatment
Status: Recruiting

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 Pharmaceuticals
Purpose: Test the safety and efficacy of higher doses of nusinersen
Status: Recruiting by invitation only

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 Pharmaceuticals
Purpose: Assessing the safety and efficacy of a higher dose of nusinersen (Spinraza) in people with SMA who have previously taken risdiplam (Evrysdi)
Status: Recruiting

Nusinersen in Adults with Spinal Muscular Atrophy: An Open Label Study to Assess Efficacy and Exploratory Endpoints (ASE study)
Protocol ID: 55518
NCT: N/A
PI: Dr. John W. Day
Study coordinator: Christina Frater, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Assess the neuromuscular effects of SMA
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

Wearable Technology to Assess Gait Function in SMA and DMD
Protocol ID: 55106
NCT: N/A
PI: Dr. John W. Day
Study coordinator: Sally Dunaway Young, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Assessing Wearable Technology to Assess Gait Function in SMA and DMD
Status: Recruiting

Development and Validation for the Adult Test of Neuromuscular Disorders (ATEND), a Functional Motor Outcome Measure
Protocol ID: 31140
NCT: N/A
PI: Dr. John W. Day
Study coordinator: Dr. Tina Duong
Sponsor: Investigator Initiated
Purpose: Development and evaluation of psychometric properties of the ATEND for weaker individuals with neuromuscular disorders
Status: Recruiting in clinic

A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101
Protocol ID: 52085
NCT04042025
PI: Dr. John W. Day
Study coordinator: Ayesha Zaina, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Novartis
Purpose: Assessing the long term effects of AVXS-101
Status: Active, not recruiting