Clinical Trials

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

Protocol ID: 23888

NCT: N/A

PI: Dr. John Day

Study coordinator: Jennifer Perez, 650-497-3080, jpperez@stanford.edu

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: 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, 650-724-3792, spaulose@stanford.edu

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

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: Michael Nguyen, mdnguyen@stanford.edu

Purpose: To assess the safety, tolerability, and efficacy of the study medication, Tirasemtiv, in ALS.

Status: Active, NOT recruiting

Title: CReATe/ Phenotype, Genotype and Biomarkers in Amyotrophic Lateral Sclerosis and Related Disorders

Protocol: 40338

NCT 02327845

Sponsor: NINDS/NIH (sub award through University of Miami)

PI: Dr. Yuen So

Coordinator: Jennifer Perez, 650-725-4341, jpperez@stanford.edu

Purpose: To learn more about Amyotrophic Lateral Sclerosis and some related disorders

Title: Development and validation of a disability severity index for CMT

Protocol: 23923

NCT01455623

Sponsor: NINDS/MDA

PI: Dr. John Day

Study coordinator: Senior Genetic Counselor, Carly Siskind, 650-721-5588, csiskind@stanfordhealthcare.org

Purpose: This study is looking to better define mild, moderate, and severe CMT on what both people affected with CMT and those who provide for people with CMT consider appropriate

Status: Active, open to enrollment

Title: Inherited Neuropathies Consortium

Protocol ID: 23094

NCT 01193088

PI: Dr. John Day

Study coordinator: Shirley Paulose, 650-724-3792, spaulose@stanford.edu

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

Protocol ID: 36312

NCT: N/A

Sponsor: Parent Project Muscular Dystrophy

PI: Dr. John Day

Study coordinated by Senior Genetic Counselor, Carly Siskind, 650-721-5588, csiskind@stanfordhealthcare.org

Purpose: The purpose of this study is to help develop and validate a kit for future newborn screening for Duchenne muscular dystrophy.

Status: Recruiting

Title: 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

NCT 02500381

Sponsor: Sarepta Therapeutics, Inc.

PI: Dr. John Day

Coordinator: Carolyn McLaughlin, 650-206-3178, cjmclaug@stanford.edu

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, open to enrollment

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, 650-497-3080, spol@stanford.edu

                               Monica Sangco, 650-206-3180, msangco@stanford.edu

Purpose: To study the safety, tolerability and pharmacokinetics of the study medication, BMS-986089, in Duchenne muscular dystrophy

Status: Active, Closed to enrollment.

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, 650-206-3178, cjmclaug@stanford.edu

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: Active, treatment arm closed to enrollment, control arm open for enrollment

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, 650-206-3178, cjmclaug@stanford.edu

Sponsor: Sarepta Therapeutics

Purpose: To provide confirmatory evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51.

Status: Active, treatment arm closed to enrollment, control arm open for enrollment

Title: A Clinical Outcome Study for Dysferlinopathy

Protocol ID: 30019

NCT 01676077

PI: Dr. John Day

Study coordinator: Jennifer Perez, 650-497-3080, jpperez@stanford.edu

Sponsor: Jain Foundation

Purpose: To study the natural history of Dysferlinopathy (Miyoshi myopathy/Limb-Girdle Muscular Dystrophy Type 2B)

Status: Active, NOT Recruiting

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

Protocol ID: 39538

NCT: N/A

Sponsor: Jacobus Pharmaceuticals

PI: Dr. Carolina Tesi Rocha

Coordinator: Lesly Welsh, 650-497-3079, lwelsh@stanford.edu

Purpose: to improve the muscle strength and motor function in Congenital Myasthenic Syndrome.

Status: Participation by invitation only

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

Protocol ID: 33296

NCT: N/A

PI: Dr. John Day

Study coordinator: Shirley Paulose, 650-724-3792, spaulose@stanford.edu

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, 650-497-3079, lwelsh@stanford.edu

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

Protocol ID: 35606

NCT02301624

PI: Dr. Srikanth Muppidi

Study coordinator: Lesly Welsh, 650-497-3079, lwelsh@stanford.edu

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 : N/A

PI: Dr. Joshua Knowles        Co-investigators: Dr. Fahim Abbasi, Dr. John Day

Study coordinator: Jennifer Perez, 650-497-3080, jpperez@stanford.edu

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: 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, 650-497-3080,  jpperez@stanford.edu

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: Recruiting

Title: Clinical and Genetic Characterization of Myotonic Dystrophy

Protocol ID: 22947

NCT: N/A

PI: Dr. John Day

Study coordinator: Jennifer Perez, 650-497-3080,  jpperez@stanford.edu

Sponsor: NIH/investigator initiated

Purpose: This is an umbrella protocol for Myotonic Dystrophy research to study various aspects of the disease including sleep abnormalities.

Status: Recruiting

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, 650-497-3080, spol@stanford.edu

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: 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, 650-454-6153, lwelsh@stanford.edu

Pupose: To collect information on the subjects with rare diseases like Pompe Disease and other lysosomal storage disorders longitudinally.

Status: Recruiting

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

Protocol ID: 34389

NCT: N/A

Sponsor: Genzyme corporation

PI: Dr. Neelam Goyal

Study coordinator: Sabrina Pol, 650-497-3080, spol@stanford.edu

                               Monica Sangco, 650-206-3180, msangco@stanford.edu

Purpose: To study the true incidence of Pompe Disease

Status: Recruiting in clinic

Title: 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 (COMET)

Protocol ID: 38164

NCT02782741

Sponsor: Genzyme Sanofi

PI: Dr. John Day

Coordinator: Lesly Welsh, 650-497-3079, lwelsh@stanford.edu

Purpose: To assess the effect of the investigational product in improving muscle strength and motor function in Pompe Disease.

Status: Open to recruitment soon

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, 650-724-3792, spaulose@stanford.edu

Pupose: To study the pharmacodynamics, safety, tolerability and pharmacokinetics of the study medication, CK-2127107, in patients with SMA

Status: Recruiting

Title: 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

PI: Dr. John Day

Study Coordinator: Lesly Welsh, 650-497-3079, lwelsh@stanford.edu

Purpose: To measure whether and how safe RO7034067 is in infants with Type 1 Spinal Muscular Atrophy and if it is effective in the treatment.

Status: Open to recruitment soon

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

Protocol ID: 31140

NCT00443066

PI: Dr. John Day

Study coordinators: Shirley Paulose, 650-724-3792, spaulose@stanford.edu

                                Monica Sangco, 650-206-3180, msangco@stanford.edu

Sponsor: Columbia University, Collaborator: Spinal Muscular Atrophy Foundation

Purpose: To study the natural history of Spinal Muscular Atrophy to help with clinical trials in the future.

Status: Recruiting in clinic

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, 650-724-3792, spaulose@stanford.edu

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, closed to enrollment