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 Schnyer, 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

A6MCT Testing the feasibility and efficacy of the 6-minute assisted cycle test in non-ambulatory neuromuscular patients
Protocol ID: N/A
NCT: N/A
PI: Dr. Tina Duong
Study Coordinator: Audrey Chun, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Status: Recruiting

Development and Validation for the Adult Test of Neuromuscular Disorders (ATEND), a Functional Motor Outcome Measure
Protocol ID: 58208
NCT: N/A
PI: Dr. Tina Duong
Study Coordinator: Tia Lum, 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 a neuromuscular diagnosis

OpenCAP Video technology to assess timed function tests and gait quality
Protocol ID: N/A
NCT: N/A
PI: Dr. Tina Duong
Study Coordinator: Sarah Ismail, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Status: Recruiting

Addressing Immunotoxicities to AAV Gene Therapy for DMD and Other Disorders
Protocol ID: 79348
NCT: N/A
PI: Dr. John W. Day and Dr. Bradley Hamilton
Study Coordinator: TBD, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose:
Status: Recruiting

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

Refining the Patient-Ranked Order of Function in People Living with ALS (PROOF)
Protocol ID: 75570
NCT: N/A
PI: Dr. Maxwell Greene
Study Coordinator: Raiye Hailu, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: DOD and Dutch Research Council
Purpose: Natural History Study of ALS, interview-based study
Status: Recruiting

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 and adults with ALS
Status: Active, no longer recruiting
Recruitment Notes: Confirmed genetic mutation in FUS, ages 16-65

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

Briefer Cognitive Behavioral Screen in ALS
Protocol ID: 77489
NCT: N/A
PI: Drs. Maxwell Greene and Ying Lee
Study Coordinator: Raiye Hailu, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Status: Recruiting

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
NCT05291091
PI: Dr. John W. Day
Study Coordinator: Sonia Pathak, 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, no longer recruiting
Recruitment Notes: Ambulatory adults with BMD ages 18-50

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 OLE)
Protocol ID: 81418
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Sonia Pathak, 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 by invitation only

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: Raiye Hailu, 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: 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: Raiye Hailu, 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, no longer recruiting

Long-term follow-up study for all SRP-9001 studies (EXPEDITION)
Protocol ID: 71344
NCT05967351
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Sonia Pathak, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Sarepta Therapeutics, Inc
Purpose: Long term follow-up study of safety and efficacy of SRP-9001
Status: Recruiting by invitation only

Open label extension study of AOC 1044 in Healthy Adult Volunteers and Participants with Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping (EXPLORE44 OLE)
Protocol ID: 72283
NCT06244082
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Natalia Wieczorek, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences
Purpose: Assessing the safety and efficacy of AOC1044 in DMD
Status: Active, no longer recruiting

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 DUCHENNE)
Protocol ID: 52155
NCT05693142
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Lidia Choniawko, 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

A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-202 Gene Therapy in Males with Duchenne Muscular Dystrophy (AFFINITY LTFU)
Protocol ID: 81214
NCT: N/A
PI: Dr. Carolina Tesi-Rocha
Study Coordinator: Natalia Wieczorek, 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 by invitation only

Wearable Technology to Assess Gait Function in SMA and DMD
NCT: 74765
PI: Dr. John Day
Study Coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Assess gait function using AI technology
Status: Recruiting in clinic

A Study to Investigate the Safety and Biodistribution of a Single Intrathecal Injection of INS1201 in Ambulatory Males with Duchenne Muscular Dystrophy (Insmed ASCEND)
Protocol ID: 78652
NCT06817382
PI: Dr. John W. Day
Study Coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Insmed Pharmaceuticals Inc.
Purpose: Assessing the safety and efficacy of INS1201 in boys with DMD
Status: Recruiting
Recruitment Notes: Boys with DMD, age 2 years

Summit Vamorolone Registry
Protocol ID: 78275
NCT: N/A
PI: Dr. Jenna Klotz
Study Coordinator: Michelle Jepsen, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Observational study of boys ages 2 and older with DMD taking vamorolone
Status: Recruiting soon

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: 50330
NCT01193075
PI: Dr. Maxwell Greene
Study Coordinator: Michelle Jepsen, 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: 74511
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

Congenital muscular dystrophy (CMD)

Clinical Trial Readiness for Children 0-5 years with Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD)
Protocol ID: 75022
NCT: N/A
PI: Dr. Carolina Tesi Rocha
Study Coordinator: Lin Karman, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Observational study in children ages 0-5 with LAMA2-related CMD
Status: Recruiting

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

Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE PEDS)
Protocol ID: 80456
PI: Dr. Carolina Tesi Rocha
Study Coordinator: Lin Karman, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: NIH
Purpose: Motor Outcomes to Validate Evaluations in FSHD
Status: Recruiting soon

A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, Efficacy, and Pharmacokinetics of AOC 1020 Administered Intravenously to Adult Participants with Facioscapulohumeral Muscular Dystrophy (FORTITUDE OLE)
Protocol ID: 74674
PI: Dr. John W. Day
Study Coordinator: Nikita Sehgal, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences
Purpose: Open label extension study of safety and efficacy of AOC-1020 in adults with FSHD
Status: Recruiting by invitation only

A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FORWARD, or FORTITUDE-3)
Protocol ID: 80414
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Nikita Sehgal, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences
Purpose: Assessing the safety and efficacy of AOC-1020 in adults with FSHD
Status: Recruiting
Recruitment Notes: Ages 16-70 with diagnosis of FSHD

A Phase 1, Double-blinded, Randomized, Dose-repeating, Placebo-controlled, Cross-over Study to Assess the Safety and Preliminary Efficacy of Allogeneic ULSC on Disease Severity in Facioscapulohumeral Muscular Dystrophy (Restem)
Protocol ID: 77579
NCT07086521
PI: Dr. John W. Day
Study Coordinator: Sarah Ismail, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Restem and Solve FSHD
Purpose: Assessing safety and efficacy of stem cell treatment in FSHD
Status: Recruiting
Recruitment Notes: Participants 15 years or older with genetically confirmed FSHD1 or FSHD2

GNE myopathy

Observational study of adults with GNE myopathy
Protocol ID: 77271
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: Nikita Sehgal, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Abcuro, Inc.
Purpose: Assessing the safety and efficacy of ABC008 in adults with IBM
Status: Active, no longer recruiting

An Open-label, Multicenter Study to Evaluate the Long-term Safety and Efficacy of Ulviprubart (ABC008) in Subjects Who Have Completed a Trial of Ulviprubart for the Treatment of Inclusion Body Myositis
Protocol ID: 78504
NCT: N/A
PI: Dr. Neelam Goyal
Study Coordinator: Raiye Hailu, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Abcuro, Inc.
Purpose: Open label extension trial assessing the safety and efficacy of ABC008 in adults with IBM
Status: Recruiting by invitation only

Multifocal Motor Neuropathy (MMN)

A Study to Assess the Efficacy and Safety of Empasiprubart Versus IVIg in Adults with Multifocal Motor Neuropathy (EMPASSION)
Protocol ID: 79238
NCT: N/A
PI: Dr. Srikanth Muppidi
Study Coordinator: Sonia Pathak, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Argenx INC
Purpose: Assessing the safety and efficacy of Empasiprubart versus IVIg in adults with MMN
Status: 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: TBD, 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 2-18 with suboptimal response to current stable therapy

A Study of Anti-CD19 Chimeric Antigen Receptor T-Cell Therapy, in Subjects with Refractory Generalized Myasthenia Gravis
Protocol ID: 74139
NCT06193889
PI: Dr. Srikanth Muppidi
Study Coordinator: Susan Thomas, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Kyverna Therapeutics Inc.
Purpose: Assessing safety and efficacy of CAR-T treatment in gMG
Status: Active, no longer recruiting

A Phase 1 Study of Anitocabtagene Autoleucel for the Treatment of Subjects with Non-Oncology Plasma Cell-related Diseases
Protocol ID: 78298
NCT06626919
PI: Dr. Srikanth Muppidi
Study Coordinator: Susan Thomas, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: ArcellX Inc.
Purpose: Assessing safety and efficacy of anitocabtagene autoleucel in MG
Status: Recruiting

Myotonic dystrophy (DM)

A natural history investigating clinical outcomes and quality of life in children with Myotonic Dystrophy (ANIQ)
Protocol ID: 78905
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 of congenital and childhood DM1 in participants ages 0-24
Status: Recruiting soon

Stanford 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 study of central nervous system involvement in DM1 (DDC)
Protocol ID: 74320
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Lin Karman, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Purpose: Characterization of neurological symptoms and biomarkers of DM1
Status: Recruiting
Recruitment Notes: Adults with DM1 and their unaffected family members

Global Study of Del-desiran for the Treatment of DM1 (HARBOR)
Protocol ID: 74759
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: Active, no longer recruiting

A Global Phase 3 Open-Label Extension Study to Assess the Long-Term Safety, Tolerability, and Efficacy of Intravenous AOC 1001 for the Treatment of Myotonic Dystrophy Type 1 (HARBOR OLE)
Protocol ID: 79538
NCT07008469
PI: Dr. John W. Day
Study Coordinator: Natalia Wieczorek, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Avidity Biosciences
Purpose: Assessing the long-term safety and efficacy of Delpacibart etedesiran in people with DM1
Status: Recruiting by invitation only

Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Protocol ID: 65435
NCT: NCT03981575
PI: Dr. Jacinda Sampson
Study Coordinator: Sarah Ismail, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Investigator Initiated
Status: Active, no longer recruiting

A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Multiple-Ascending Dose Study of PGN-EDODM1 in Adult Participants with Myotonic Dystrophy Type 1 (FREEDOM2-DM1)
Protocol ID: 75989
NCT06667453
PI: Dr. Jacinda Sampson
Study Coordinator: Wendy Ao, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: PepGen Inc.
Purpose: Assessing the safety and efficacy of PGN-EDODM1 in adults with DM1
Status: Recruiting
Recruitment Notes: Participants must have a diagnosis of DM1 and be 16-60 years old

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
NCT06185764
PI: Dr. Jacinda Sampson
Study Coordinator: Sonia Pathak, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Vertex Pharmaceuticals
Purpose: Evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 at different single and multiple doses
Status: Recruiting
Recruitment Notes: Participants must have a diagnosis of DM1 and be 18-60 years old

An Open-label Extension Study Evaluating the Long-term Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of VX-670 in Adult Subjects with Myotonic Dystrophy Type I (GALILEO OLE)
Protocol ID: 81692
NCT: TBD
PI: Dr. Jacinda Sampson
Study Coordinator: Sonia Pathak, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Vertex Pharmaceuticals
Purpose: Evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 at different single and multiple doses
Status: Recruiting soon by invitation only

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 (REACH CDM)
Protocol ID: 61610
NCT03692312
PI: Dr. John W. Day
Study Coordinator: Rabia Farooquee, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: AMO Pharmaceuticals
Purpose: Long term follow up study determining safety and efficacy of Tideglusib in congenital DM1
Status: Active, no longer recruiting

Nemaline Myopathy

Nemaline Myopathy Natural History Study (NM-CTRN)
Protocol ID: 72180
PI: Dr. Carolina Tesi Rocha
Study Coordinator: Sarah Ismail, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: A Foundation Building Strength
Purpose: Natural history study of Nemaline Myopathy
Status: Recruiting soon
Recruitment Notes: Children with Nemaline Myopathy

Pompe disease (PD)

Pompe Disease Registry
Protocol ID: 12372
NCT00231400
PI: Dr. John W. Day
Study Coordinator: Meng Yao, 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: Recruiting in clinic
Recruitment Notes: All Stanford patients diagnosed with Pompe disease

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: Habib Mofakham Fini, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Astellas Pharma Inc
Purpose: Determine the safety and efficacy of AT845 in adults with Pompe disease
Status: Active, no longer 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: Raiye Hailu, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Assessing the long-term safety and efficacy of higher doses of Spinraza in SMA
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: Lidia Choniawko, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Assessing safety and efficacy of higher dose of Spinraza in SMA
Status: Active, no longer recruiting

Clinical Study of Spinal Muscular Atrophy (iSMAC/APNCR)
Protocol ID: 31140
NCT: N/A
PI: Dr. John W. Day
Study Coordinator: Shelby Vogt-Domke, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: SMA Foundation, CureSMA, Biogen
Purpose: To study the natural history of SMA, and response to disease-modifying treatments
Status: Recruiting in clinic

SMA pregnancy outcomes and chart review study
Protocol ID: 77364
NCT: N/A
PI: Dr. Jacinda Sampson
Study Coordinator: Shelby Vogt-Domke, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: CureSMA, Biogen
Purpose: To study pregnancy health and outcomes for women with SMA
Status: Recruiting
Recruitment Notes: Women with SMA who are pregnant or were previously pregnant

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: Natalia Wieczorek, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Scholar Rock
Purpose: Long term safety and efficacy of Apitegromab
Status: Recruiting by invitation only

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, no longer recruiting

Adult SMA Exploratory study (ASE)
Protocol ID: 55518
NCT: N/A
PI: Dr. Tina Duong
Study Coordinator: Shelby Vogt-Domke, 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 Performance of the ThecaFlex DRx™ System Port and Catheter for Chronic Intrathecal Access, Cerebrospinal Fluid (CSF) Aspiration, and Delivery of Nusinersen in Spinal Muscular Atrophy (SMA) Patients Resistant to Lumbar Puncture (PIERRE) Trial
Protocol ID: N/A
NCT05866419
PI: Dr. John W. Day
Study Coordinator: Habib Mofakham Fini, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Alcyone Therapeutics
Purpose: Testing an implantable device for delivery of nusinersen
Status: Recruiting
Recruitment Notes: Patients with SMA, ages 3+ who are resistant to lumbar puncture

An Open Label, Single Cohort Study to Assess the Pharmacokinetic Profile of Nusinersen (BIIB058) Administered via the ThecaFlex DRx™ System (PIERRE-PK)
Protocol ID: N/A
NCT06555419
PI: Dr. John W. Day
Study Coordinator: Habib Mofakham Fini, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Biogen
Purpose: Determining how the body processes nusinersen treatment when delivered through an implantable device
Status: Recruiting
Recruitment Notes: Participants must be enrolled in the PIERRE trial

A Phase IV Open-Label 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
NCT05861999
PI: Dr. John W. Day
Study Coordinator: TBD, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Roche
Purpose: Assessing safety and efficacy of risdiplam treatment after SMA gene therapy
Status: Recruiting
Recruitment Notes: Age <2 with previous SMA gene therapy treatment with plateau or decline

A Phase 2, Double-Blind Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Efficacy, and Safety of Apitegromab in Subjects <2 Years Old with Spinal Muscular Atrophy (SMA) (OPAL)
Protocol ID: 80599
NCT07047144
PI: Dr. Carolina Tesi Rocha
Study Coordinator: Wendy Ao, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Scholar Rock Inc
Purpose: Assessing safety and efficacy of apitegromab in children <2 with SMA
Status: Recruiting
Recruitment Notes: Age <2 with SMA diagnosis, previously received SMA gene therapy or continuing to receive nusinersen or risdiplam