An Open-label Extension Study for Patients with Spinal Muscular Atrophy who Previously Participated in Investigational Studies of ISIS 396443
Protocol ID: 36172
NCT02594124
Sponsor: Ionis Pharmaceuticals, Inc.
PI: Dr. John W. Day
Study coordinator: Shirley Paulose, spaulose@stanford.edu, 650-725-4341
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, but closed to enrollment.
Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy (CHRI protocol on DM)
Protocol ID: 28486
NCT02269865
PI: Dr. John W. Day
Study coordinator: Mitchell Reddan, mreddan@stanford.edu, 650-725-4341
Sponsor: Childrens’ Health Research Institute/investigator initiated
Purpose: To clarify mechanisms that underlie cognitive and behavioral changes in DM, some of which may also be involved in more common childhood behavioral abnormalities
Status: Recruitment paused
Clinical and Genetic Characterization of Myotonic Dystrophy
Protocol ID: 22947
NCT: NA
PI: Dr. John W. Day
Study coordinator: Mitchell Reddan, mreddan@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 including sleep abnormalities.
Status: Recruiting
Inherited Neuropathies Consortium
Protocol ID: 23094
NCT01193088
PI: Dr. John W. Day
Study coordinator: Shirley Paulose, spaulose@stanford.edu, , 650-725-4341
Sponsor: NIH and Muscular Dystrophy Association
Purpose: to learn more information about the way that Charcot Marie Tooth disease (CMT) progresses over time, and also looking for new genetic types of CMT and looking to see if there are things in the DNA that may change the presentation of the condition by making it better or worse
Status: Recruiting
Subject Database and Specimen Repository for Neuromuscular and Neurodegenerative Disorders
Protocol ID: 23888
NCT: NA
PI: Dr. John W. Day
Study coordinator: Mitchell Reddan, mreddan@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 subject 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
Compassionate Distribution Treatment Protocol: Treatment of Lambert-Eaton Syndrome with 3,4-Diaminopyridine
Protocol ID: 33296
NCT: NA
PI: Dr. John W. Day
Study coordinator: Shirley Paulose, spaulose@stanford.edu, 650-725-4341
Sponsor: Jacobus Pharmaceuticals
Purpose: To provide access to 3,4-diaminopyridine (3,4-DAP), a drug which has been demonstrated to be effective in treating the weakness associated with Lambert-Eaton Myasthenic Syndrome (LEMS) but is currently not approved by the FDA for use in the United States. This study is for one patient only and to provide the medication on a compassionate use basis.
Status: Active, NOT Recruiting
An Open-Label, Expanded Access Protocol for Firdapse® (Amifampridine Phosphate; 3,4-Diaminopyridine Phosphate) Treatment in Patients with Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndromes (CMS) and Downbeat Nystagmus
Protocol ID: 36811
NCT02189720
PI: Dr. Yuen So
Sponsor: Catalyst Pharmaceuticals
Study coordinator: Lesly Welsh, lwelsh@stanford.edu, 650-725-4341
Purpose:To provide patients with LEMS/CMS/downbeat nystagmus access to amifampridine phosphate therapy until the product becomes commercially available.
Status: Active, enrollment open by invitation only
Tissue Banking of Blood, Spinal Fluid or Skin Biopsy for the Research of Neurological Diseases
Protocol ID: 16472
NCT: NA
PI: Dr. Yuen So
Study coordinator: Shirley Paulose, spaulose@stanford.edu, 650-725-4341
Sponsor: investigator initiated
Purpose: To collect blood, spinal fluid, or skin biopsy specimen to create a tissue bank for current or future neuroscience research, which would help to learn more about various neurological conditions.
Status: Recruiting
Clinical Study of Spinal Muscular Atrophy (PNCR/iSMAC SMA study)
Protocol ID: 31140
NCT00443066
PI: Dr. John W. Day
Study coordinators: Monica Sangco, msangco@stanford.edu and Katharine Hagerman, khagerma@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
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, lwelsh@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
WN40226 A Multi-Site, Randomized, Placebo-Controlled, Double-Blind, Multiple Ascending Subcutaneous Dose Study to Evaluate the Safety, Tolerability and Pharmacokinetics of RO07239361 (BMS-986089) in Ambulatory Boys with Duchenne Muscular Dystrophy.
Protocol ID: 35232
NCT02515669
Sponsor: Bristol-Myers Squibb
PI: Dr. John W. Day
Study coordinator: Tia Nguyen, tinguyen@stanford.edu, 650-725-4341
Purpose: To study the safety, tolerability and pharmacokinetics of the study medication, BMS-986089, in Duchenne muscular dystrophy
Status: Active, Closed to enrollment.
Collection of Confirmed DMD Positive and Presumptive Negative Newborn Screening DBS Specimens
Protocol ID: 36312
NCT: NA
Sponsor: Parent Project Muscular Dystrophy
PI: Dr. John W. Day
Study coordinated by Senior Genetic Counselor, Carly Siskind, csiskind@stanfordhealthcare.org, 650-725-4341
Purpose: The purpose of this study is to help develop and validate a kit for future newborn screening for Duchenne muscular dystrophy.
Status: Recruiting
CReATe/ Phenotype, Genotype and Biomarkers in Amyotrophic Lateral Sclerosis and Related Disorders
Protocol: 40338
NCT02327845
Sponsor: NINDS/NIH (sub award through University of Miami)
PI: Dr. Yuen So
Coordinator: Mitchell Reddan, mreddan@stanford.edu, 650-725-4341
Purpose: to learn more about Amyotrophic Lateral Sclerosis and some related disorders
Status: Recruiting
A Double-Blind, Placebo-Controlled, Multicenter Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 n SRP-4053 in Patients With Duchenne Muscular Dystrophy (ESSENCE)
Protocol: 38263
NCT02500381
Sponsor: Sarepta Therapeutics, Inc.
PI: Dr. John W. Day
Coordinator: Monica Sangco, msangco@stanford.edu 650-725-4341
Purpose: To evaluate the efficacy of SRP-4045 and SRP-4053 compared to placebo in Duchenne muscular dystrophy (DMD) patients with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53 respectively.
Status: Active, Closed to recruitment
Phase I, Open-Label, Dose Comparison Study of AVXS-101 for Sitting but Non-ambulatory Patients with Spinal Muscular Atrophy
Protocol: 38893
NCT03381729
Sponsor: Avexis Pharmaceuticals, Inc.
PI: Dr. John W. Day
Coordinator: Carolyn McLaughlin Savage, cmcsavage@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: Open for recruitment.
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: 40452
NCT02913482
Sponsor: Roche Pharmaceuticals, Inc.
PI: Dr. John W. Day
Coordinator: Lesly Welsh, lwelsh@stanford.edu, 650-725-4341
Purpose: it is to assess an investigational product for spinal muscular atrophy Type 1
Status: Active, but closed to enrollment
AVXS-101-CL-303: Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN 2 CopiesPhase I, Open-Label, Dose Comparison Study of AVXS-101 by Intravenous Infusion (STRIVE) GENE TRANSFER.
Protocol: 40902
NCT03306277
Sponsor: Avexis Pharmaceuticals, Inc.
PI: Dr. John W. Day
Coordinator: Carolyn McLaughlin Savage, cmcsavage@stanford.edu 650-725-4341
Purpose: It is a gene therapy study in subjects with Spinal Muscular Atrophy Type 1.
Status: Will be open for recruitment soon.
WN40227 A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of RO7239361 (BMS-986089) in Ambulatory Boys with Duchenne Muscular Dystrophy
Protocol: 40357
NCT03039686
Sponsor: Roche Pharmaceuticals
PI: Dr. John W. Day
Coordinator: Tia Nguyen, tinguyen@stanford.edu, 650-725-4341
Purpose: An anti-myostatin compound is tried in subjects with any type of Duchenne Muscular Dystrophy.
Status: Will be recruiting soon.
CY 5022/ a Phase 2, Multi-Center, Double-Blind, Randomized, Dose-Ranging, Placebo-Controlled Study to Evaluate the Efficacy, Safety, and Tolerability of CK-2127107 in Patients with Amyotrophic Lateral Sclerosis
Protocol: 41454
NCT03160898
Sponsor: Cytokinetics, Inc.
PI: Dr. Yuen So
Coordinator: Tia Nguyen, tnguyen@stanford.edu, 650-725-4341
Purpose: This study is mainly to assess the improvement in respiratory function in patients with Amyotrophic Lateral Sclerosis
Status: Will be open soon for recruitment
Compassionate Distribution Treatment Protocol: Treatment of Lambert-Eaton Syndrome and Congenital Myasthenic Syndromes with 3,4 Diaminopyridine
Protocol: 39538
NCT: NA
Sponsor: Jacobus Pharmaceuticals, Inc.
PI: Dr. Carolina Tesi Rocha
Coordinator: Lesly Welsh, 650-725-4341, lwelsh@stanford.edu
Purpose: This protocol is specifically for a child with congenital myasthenia syndrome to treat the muscle weakness.
Status: Active, but not recruiting.
A Phase 3 Randomized, Multicenter, Multinational, Double-Blinded Study Comparing the Efficacy and Safety of Repeated Biweekly Infusions of NeoGAA (GZ402666) and Alglucosidase Alfa in Treatment-Naïve Patients with Late Onset Pompe Disease
Protocol ID: 38164
NCT02782741
Sponsor: Sanofi Genzyme
PI: Dr. John W. Day
Coordinator: Monica Sangco, msangco@stanford.edu, 650-725-4341
Purpose: To study the possible risks, efficacy, and pharmacokinetics of the study drug when compared to Lumizyme which is available now commercially to treat Pompe Disease.
Status: Open to recruitment.
A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Efficacy and Safety Study of Ataluren in Patients with Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension
Protocol ID: 42313
NCT03179631
Sponsor: PTC Therapeutics
PI: Dr. John W. Day
Coordinator: Monica Sangco, msangco@stanford.edu, 650-725-4341
Purpose: to characterize the long-term effects of ataluren-mediated dystrophin restoration on disease progression.
Status: Open for recruitment.
Collection of Confirmed SMA, XLA, and SCID Positive Newborn Screening Dried Blood Spot Specimens
Protocol: 45467
NCT:NA
Sponsor: Perkin Elmer
PI: Dr. John W. Day
Coordinator: Managed in clinic by senior genetic counsellor Carly Siskind, csiskind@stanfordhealthcare.org, 650-725-4341
Purpose: to develop a newborn SMA screening kit.
Status: Open by invitation only
Individual Patient Expanded Access Protocol for the Treatment of a Single Patient with Late-Onset Tay Sachs.
Protocol: 46346
NCT: NA
PI: Dr. Yuen So
Coordinator: Tia Nguyen, tinguyen@stanford.edu, 650-725-4341
Purpose: To evaluate the safety, tolerability, and feasibility of administration of RT001 in a single subject with Late Onset Tay Sachs.
Status: Closed for enrollment, but active.
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 Trial)
Protocol: 44102
NCT02908685
PI: Dr. John W. Day
Coordinator: Lesly Welsh, lwelsh@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, closed to recruitment
