Clinical Trials

Title: 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
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: Recruiting, but open only to the participants who participated in the index study.

Title: ISIS 396443-CS3A--A Study to Assess the Safety, Tolerability, and Pharmacokinetics of Multiple Doses of ISIS 396443 Delivered Intrathecally to Patients with Infantile-Onset Spinal Muscular Atrophy

Protocol ID: 27092
NCT01839656
PI: Dr. John Day
Study coordinator: Shirley Paulose
Sponsor: Ionis Pharmaceuticals Inc.
Purpose: This study is to assess the safety and tolerability of  multiple doses of the study medication, ISIS 396443, given intrathecally to subjects with infantile onset SMA.
Status: Active, NOT Recruiting

Title:  A Phase 1/2a Blinded, Placebo-Controlled Study to Assess the Safety, Tolerability, and Dose-range Finding of Multiple Ascending Doses of ISIS 598769 Administered Subcutaneously to Adult Patients with Myotonic Dystrophy Type 1 (ISIS 598769-CS2)

Protocol ID: 31884
NCT 02312011
PI: Dr. John Day
Study coordinator: Bona Purse
Sponsor: Ionis Pharmaceuticals Inc.
Purpose: To examine the safety and tolerability of multiple doses of ISIS 598769 administered subcutaneously to adult patients with DM1
Status: Recruiting

Title: Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy (CHRI protocol on DM)

Protocol ID: 28486
NCT02269865
PI: Dr. John Day
Study coordinator: Jennifer Perez
Sponsor: Children’s 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: Recruiting

Title: Clinical and Genetic Characterization of Myotonic Dystrophy

Protocol ID: 22947
NCT: NA
PI: Dr. John Day
Study coordinator: Jennifer Perez
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

Title: A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1

Protocol ID: 28640
NCT 02308657
PI: Dr. John Day
Study coordinator: Lesly Welsh
Sponsor: University of Rochester
Purpose: To determine the best ways to assess how people are affected by myotonic dystrophy type 1 (DM1).
Status: Active, Not Recruiting

Title: A Clinical Outcome Study for Dysferlinopathy

Protocol ID: 30019
NCT 01676077
PI: Dr. John Day
Study coordinator: Jennifer Perez
Sponsor: Jain Foundation
Purpose: To study the natural history of Dysferlinopathy (Miyoshi myopathy/Limb-Girdle Muscular Dystrophy Type 2B)
Status: Active, NOT Recruiting

Title: An Open-Label, Multi-Center, 48-Week Study with a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy (Sarepta) "PROMOVI"/ Sarepta 4658-301

Protocol ID: 31035
NCT 02255552
PI: Dr. John Day
Study coordinator: Carolyn McLaughlin
Sponsor: Sarepta Therapeutics
Purpose: is to provide confirmatory evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51.
Status: Recruiting

Title: An Open-Label, Multi-Center Study to Evaluate the Safety, Efficacy and Tolerability of Eteplirsen in Early-Stage Duchenne Muscular Dystrophy/ (Sarepta 4658-203)

Protocol ID: 33486
NCT 02420379
PI: Dr. John Day
Study coordinator: Carolyn McLaughlin
Sponsor: Sarepta Therapeutics
Purpose: To assess the safety, tolerability, efficacy and pharmacokinetics of eteplirsen in patients with early stage Duchenne muscular dystrophy (4-6 year old boys with DMD) who are amenable to exon 51 skipping.
Status: Recruiting to untreated arm

Title: Prospective, Longitudinal Study of the Natural History and Functional Status of Patients with Myotubular Myopathy (MTM)

Protocol ID: 30959
NCT 02057705
PI: Dr. John Day
Study coordinator: Sabrina Pol
Sponsor: Valerion Therapeutics
Purpose: Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
Status: Recruiting

Title: Inherited Neuropathies Consortium

Protocol ID: 23094
NCT 01193088
PI: Dr. John Day
Study coordinator: Shirley Paulose
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

Title: Subject Database and Specimen Repository for Neuromuscular and Neurodegenerative Disorders

Protocol ID: 23888
NCT: NA
PI: Dr. John Day
Study coordinator: Jennifer Perez
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

Title: Compassionate Distribution Treatment Protocol: Treatment of Lambert-Eaton Syndrome with 3,4-Diaminopyridine

Protocol ID: 33296
NCT: NA
PI: Dr. John Day
Study coordinator: Shirley Paulose
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

Title: 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
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

Title: 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
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

Title: A Phase III, Open-Label, Extension Trial of ECU-MG-301 to Evaluate the Safety and Efficacy of Eculizumab in Subjects with Refractory GeneralizedMyasthenia Gravis (gMG)/ Alexion ECU-MG-302

Protocol ID: 35606
NCT02301624
PI: Dr. Srikanth Muppidi
Study coordinator: Lesly Welsh
Sponsor: Alexion Pharmaceuticals
Purpose: The purpose of this study is to determine if eculizumab is safe and effective for the treatment of patients with refractory gMG.
Status: Active, NOT Recruiting

Title: Insulin Resistance and Insulin Secretion in Patients with Myotonic Dystrophy

Protocol ID: 30946
NCT:  NA
PI: Dr. Joshua Knowles        Co-investigators: Dr. Fahim Abbasi, Dr. John Day
Study coordinator: Jennifer Perez
Sponsor: investigator initiated
Purpose: To determine the distribution of insulin resistance in patients with myotonic dystrophy and to describe the relationship between degree of insulin resistance and insulin secretion.
Status: Recruiting

Title: Clinical Study of Spinal Muscular Atrophy (PNCR SMA study)

Protocol ID: 31140
NCT00443066
PI: Dr. John Day 
Study coordinators: Shirley Paulose or Katharine Hagerman
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

Title: The Rare Disease Registry Program

Protocol ID: 12372
Sponsor: Genzyme Corporation/Sanofi
PI: Dr. Gregory Enns, Co-I: Dr. John Day
Study coordinator: Lesly Welsh
Purpose: To collect information on the subjects with rare diseases like Pompe Disease and other lysosomal storage disorders longitudinally.
Status: Recruiting

Title: An Open Label, Intrapatient Dose Escalation Study to Evaluate the Safety, Tolerability, Immunogenicity, and Biological Activity of ATYR1940 in Patients With Early Onset and Other Pediatric Onset Facioscapulohumeral Muscular Dystrophy ATYR1940-003

Protocol ID: 35303
NCT02603562
Sponsor: aTyr Pharma
PI: Dr. John Day
Study coordinator: Jennifer Perez or Bona Purse
Purpose: To assess the safety, tolerability, immunogenicity, and efficacy of the study medication, ATYR1940 in early onset FSHD.
Status: Active, NOT recruiting

Title: Protocol CY 4031: A Phase 3, Multi-National, Double-Blind, Randomized, Placebo-Controlled, Stratified, Parallel Group, Study to Evaluate the Safety, Tolerability and Efficacy of Tiramsemtiv in Patients with Amyotrophic Lateral Sclerosis (ALS)

Protocol ID: 35593
NCT02496767
Sponsor: Cytokinetics, Inc.
PI: Dr. Yuen So
Study coordinator: Bona Park Purse
Purpose: To assess the safety, tolerability, and efficacy of the study medication, Tirasemtiv, in ALS.
Status: Active, NOT recruiting

Title: A Multi-Site, Randomized, Placebo-Controlled, Double-Blind, Multiple Ascending Subcutaneous Dose Study to Evaluate the Safety, Tolerability and Pharmacokinetics of BMS-986089 in Ambulatory Boys with Duchenne Muscular Dystrophy.

Protocol ID: 35232
NCT02515669
Sponsor: Bristol-Myers Squibb
PI: Dr. John Day
Study coordinator: Sabrina Pol
Purpose: To study the safety, tolerability and pharmacokinetics of the study medication, BMS-986089, in Duchenne muscular dystrophy
Status: Recruiting

Title: Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices (IPANEMA)

Protocol ID: 34389
NCT:NA
Sponsor: Genzyme corporation
PI: Dr. Neelam Goyal
Study coordinator: Sabrina Pol
Purpose: To study the true incidence of Pompe Disease
Status: Recruiting in clinic

Title: A Phase 2, Double-Blind, Randomized, Placebo-Controlled, Multiple Dose Study of CK-2127107 in Two Ascending Dose Cohorts of Patients with Spinal Muscular Atrophy (SMA)

Protocol ID: 35918
NCT02644668
Sponsor: Cytokinetics, Inc.
PI: Dr. Carolina Tesi Rocha
Study coordinator: Shirley Paulose
Purpose: To study the pharmacodynamics, safety, tolerability and pharmacokinetics of the study medication, CK-2127107, in patients with SMA
Status: Recruiting

Title: Collection of Confirmed DMD Positive and Presumtive Negative Newborn Screening DBS Specimens

Protocol ID: 36312
NCT: NA
Sponsor: Parent Project Muscular Dystrophy
PI: Dr. John Day
Study coordinated by Senior Genetic Counselor, Carly Siskind, csiskind@stanfordhealthcare.org, 650-721-5588
Purpose: The purpose of this study is to help develop and validate a kit for future newborn screening for Duchenne muscular dystrophy.
Status: will start recruiting soon.

 

Clinical Trial Questions?

For more information on clinical trials:

Angelica Martinez
Neuromuscular Research Administrator
(650) 725-4341