Phase 2 N=12 An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
GNE Myopathy
Primary: Mean Area Under the Curve (AUClast) of Plasma ManNAc (Baseline-adjusted) — 7461; 9432 hr*ng/mL
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Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=89 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
Hereditary Inclusion Body Myopathy · Distal Myopathy With Rimmed Vacuoles · Distal Myopathy, Nonaka Type
Primary: Change From Baseline in UEC Score (Total Force in kg) at Week 48 — -2.25; -2.99 kg — p=0.5387
Phase 3 N=90 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease
Pompe Disease (Late-onset) · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Primary: Summary of Patients Reporting Treatment-Emergent Adverse Events — 60; 30; 32; 17 participants
Phase 4 N=12 Growth and Development Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Primary: Recumbent Height/Length of Participants in Centimeters (cm) — 80.4; 93.8; 67.7; 91.1 cm
Phase 2 N=13 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
Pompe Disease
Primary: Safety Assessments of the rAAV1-CMV-GAA (Study Agent), Changes Post Study Agent Administration. — 40,031; 29,638; 5,509,882; 1,907,161 mU/mL
Phase 4 N=16 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
Pompe Disease (Late-Onset) · Glycogen Storage Disease Type II (GSD II) · Glycogenesis 2 Acid Maltase Deficiency
Primary: Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26 — 5.3; -1.6 percent area occupied by glycogen — p=0.1860
Phase 2 N=46 An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy
GNE Myopathy · Hereditary Inclusion Body Myopathy (HIBM)
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation — 43; 46; 46; 1 Participants
Phase 2 N=19 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I
LGMD2I
Primary: Incidence of Dose Limiting or Intolerability Treatment Related Adverse Events — 45; 21; 40; 0 events
Phase 3 N=24 Arimoclomol in Sporadic Inclusion Body Myositis
Inclusion Body Myositis
Primary: Count of Adverse Events Reported — 109; 52 adverse events reported
Phase 4 N=13 High Dose or High Dose Frequency Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Glycogenesis 2 Acid Maltase Deficiency
Primary: Participants' Efficacy Response During the Treatment Period as Compared to Baseline for Participants With Respiratory Decline on Standard Treatment — 0; 0; 0; 1…
Phase 2 N=63 Antioxidant Therapy in RYR1-Related Congenital Myopathy
Neuromuscular Disease
Primary: Urine 15-F2t Isoprostane Concentration — 2.7; 2.6 ng/mg Cr — p=0.88
Phase 4 N=90 Late-Onset Treatment Study Extension Protocol
Pompe Disease (Late-Onset) · Glycogen Storage Disease Type II (GSD-II) · Glycogenesis Type II
Primary: Summary of Participants Reporting Treatment-Emergent Adverse Events For Participants Treated With Alglucosidase Alfa During Study AGLU02704 (NCT00158600) — 60; 37; 21…
Phase 3 N=34 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease
Gaucher Disease, Type 1
Primary: Mean Change From Baseline to Month 9 in Hemoglobin (Hgb) Concentration for Each Treatment Group. — 1.624; 1.488 gram per deciliter (g/dl)
Phase 3 N=25 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease
Gaucher Disease, Type 1
Primary: Change From Baseline to 12 Months in Hemoglobin Concentration for the 60 U/kg Treatment Group. — 2.429 g/dL — p=<0.0001
Phase 3 N=44 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
Phase 3 N=186 A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
Muscular Dystrophies
Primary: Change From Baseline in Muscle Function Using the 6 Minute Walking Distance (6MWD) Test Assessed at Week 48 — -52.65; -42.32 Meters — p=0.415
Phase 2 N=5 Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation Patients
Recessive Dystrophic Epidermolysis Bullosa
Primary: Restoration of Full-length Type VII Collagen as Assessed by Immunofluorescence. — 5; 5; 4; 4 Fluorescence Intensity (MFI) for C7
Phase 2 N=16 Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy
Myotonic Dystrophy 1
Primary: Safety (Adverse Events) — 8; 6; 0; 0 Participants
Phase 2 N=59 Effectiveness of Mexiletine for Treating People With Non-Dystrophic Myotonia
Myotonia · Non-Dystrophic Myotonia
Primary: Patient-reported Stiffness on the IVR — 2.53; 4.21; 1.60; 5.27 units on a scale — p=<0.001
Phase 2 N=51 A Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)
Muscular Dystrophies
Primary: Mean Change From Baseline in Muscle Function Using the 6 Minute Walking Distance — -10.98; -19.93; 16.12 Meters — p=0.554
Phase 3 N=53 Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy
Primary: Change in Clinician-Completed Congenital DM1 Rating Scale (CDM1-RS) — -1.65; -3.40 score on a scale — p=0.0514
Phase 3 N=230 Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
Muscular Dystrophy, Duchenne · Muscular Dystrophies · Muscular Disorders, Atrophic
Primary: Change From Baseline in 6MWD at Week 48 — -60.67; -47.69 meters — p=0.213
Phase 3 N=167 An Efficacy and Safety Study of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness
Generalized Myasthenia Gravis
Primary: Percentage of MG-ADL Responders During Cycle 1 (C1); Analyzed in the AChR-Ab Seropositive Population — 67.7; 29.7 percentage of patients — p=<0.0001
Phase 2 N=51 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Becker Muscular Dystrophy
Becker Muscular Dystrophy
Primary: Mean Change From Baseline to Visit 11 in Total Fibrosis (%) on Log Scale, Comparing the Histology of Muscle Biopsies — -0.017; -0.054 log[percentage of total fibrosis]…
Phase 2 N=69 Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 1
Primary: Change From Baseline to Week 24 in Distance Walked as Assessed by the Six-minute Walk Test (6MWT) Distance — 12.40; 20.11 meters
Phase 2 N=12 Efficacy and Safety Study of Genetically Targeted Enzyme Replacement Therapy for Advanced Heart Failure
Heart Failure, Congestive · Dilated Cardiomyopathy
Primary: Phase 2: Incidence of Treatment-emergent Adverse Events (TEAE) at 12 Months — 100; 100; 88.9; 92.9 percentage of participants
Phase 2 N=6 A Gene Transfer Therapy Study to Evaluate the Safety of SRP-9004 (Patidistrogene Bexoparvovec) in Participants With Limb-Girdle Muscular Dystrophy, Type 2D (LGMD2D)
Limb-Girdle Muscular Dystrophy, Type 2D
Primary: Number of Participants With Adverse Events (AEs). — 1; 3; 2; 0 Participants
Phase 3 N=249 HEALEY ALS Platform Trial - Regimen G DNL343
Amyotrophic Lateral Sclerosis
Primary: Disease Progression as Assessed by the ALSFRS-R-Slope — -0.88; -0.84 Percent change
Phase 2 N=24 A Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness
Myasthenia Gravis
Primary: Number of Patients With Treatment Emergent Adverse Events (TEAES) and Treatment Emergent Serious Adverse Events (SAEs) — 10; 10; 8; 3 Participants
Phase 3 N=94 Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada
Duchenne Muscular Dystrophy · Becker Muscular Dystrophy · Dystrophinopathy
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs) — 91; 31; 26 Participants