Spinal Muscular Atrophy (SMA)
An Open-label Extension Study for Patients with Spinal Muscular Atrophy who Previously Participated in Investigational Studies of ISIS 396443 (SHINE)
Protocol ID: 36172
NCT02594124
PI: Dr. John W. Day
Study coordinator: Shirley Paulose, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Ionis Pharmaceuticals, Inc.
Purpose: To evaluate the long-term safety and tolerability, and to examine the cerebrospinal fluid pharmacokinetics of ISIS 396443 administered intrathecally to patients with SMA who previously participated in investigational studies of ISIS 396443.
Status: Active, no longer recruiting
Clinical Study of Spinal Muscular Atrophy (PNCR/iSMAC SMA study)
Protocol ID: 31140
NCT00443066
PI: Dr. John W. Day
Study coordinators: Whitney Tang, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Columbia University, Collaborator: Spinal Muscular Atrophy Foundation
Purpose: To study the natural history of Spinal Muscular Atrophy to help with clinical trials in future.
Status: Recruiting in clinic
Phase I, Open-Label, Dose Comparison Study of AVXS-101 for Sitting but Non-ambulatory Patients with Spinal Muscular Atrophy (STRONG)
Protocol ID: 38893
NCT03381729
Sponsor: Avexis Pharmaceuticals, Inc.
PI: Dr. John W. Day
Coordinator: Monica Sangco, NeuromuscularResearch@stanford.edu 650-725-4341
Purpose: It is a gene therapy study to compare doses of the investigational product for a group of subjects with Spinal Muscular Atrophy
Status: Recruitment on hold
A Two Part Seamless Multi-center Randomized Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Patients (SUNFISH)
Protocol ID: 44102
NCT02908685
PI: Dr. John W. Day
Coordinator: Lesly Welsh, NeuromuscularResearch@stanford.edu, 650-725-4341
Purpose: to assess the safety and tolerability, efficacy, pharmacokinetics and pharmacodynamics of RO7034067 in pediatric and adults patients with SMA Type 2 and 3.
Status: Active, no longer recruiting
A Study of Risdiplam (RO7034067) in Adult and Pediatric Participants With Spinal Muscular Atrophy (JEWELFISH)
Protocol ID: 47834
NCT03032172
PI: Dr. John W. Day
Study coordinator: Lesly Welsh, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Roche Pharmaceuticals, Inc.
Purpose: This is a multi-center, exploratory, non-comparative, and open-label study to investigate the safety, tolerability, PK, and PK/PD relationship of risdiplam in adults, children and infants with Spinal Muscular Atrophy (SMA) previously enrolled in Study BP29420 (Moonfish) with the splicing modifier RO6885247 or previously treated with nusinersen or olesoxime.
Status: Active, no longer recruiting
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, no longer recruiting
A Two Part Seamless, Open-Label, Multicenter Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of R07034067 in Infants With Type 1 Spinal Muscular Atrophy (FIREFISH)
Protocol ID: 40452
NCT02913482
PI: Dr. John W. Day
Study coordinator: Lesly Welsh, NeuromuscularResearch@stanford.edu, 650-725-4341
Sponsor: Roche Pharmaceuticals, Inc.
Purpose: Testing the safety and efficacy of R07034067 in infants with spinal muscular atrophy Type 1
Status: Active, no longer recruiting
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: Testing the efficacy of higher doses of nusinersen in SMA
Status: Recruiting some cohorts
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: Dana McDonnell, 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
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
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
Sponsor: Investigator Initiated
Purpose: Testing 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
