Clinical trials: Myopathies
Aortic Diseases, Intensive Care Unit Syndrome
Muscle Recovery Following Aortic Surgery Induced ICUAW.
To identify determinants of 'good and bad recovery' from ICUAW and build knowledge around the timing of these processes. Also, the investigators want to discover the effects of ICUAW on physical function and HRQoL following…
- Conditions
- Aortic Diseases, Intensive Care Unit Syndrome, Intensive Care Neuropathy, Intensive Care (ICU) Myopathy
- Trial name
- VARIANCE (NCT03714399)
- Where
- United Kingdom
- Volunteers
- 31 people
- Sponsor
- Barts & The London NHS Trust
Covid19 Pneumonia, Chronic Thromboembolic Pulmonary Hypertension
COVID-19 Pneumonia: Pulmonary Physiology, Health-related Quality of Life and Benefit of a Rehabilitation Program
The pathophysiological processes involved in COVID-19 pneumonia are not fully understood. Specific alterations of the airways, lung parenchyma and pulmonary vascular tree could explain a severe ventilation/perfusion heterogeneity…
- Conditions
- Covid19 Pneumonia, Chronic Thromboembolic Pulmonary Hypertension, Myopathy, Restrictive Lung Disease
- Trial name
- COVISQAR (NCT04881214)
- Testing
- Pulmonary rehabilitation
- Where
- Switzerland
- Volunteers
- 60 people
- Sponsor
- University Hospital, Geneva
Sleep Disturbance, Sleep Disorder
Efficacy of a Sleep Hygiene Toolkit for Patients in ARU
Sleep Hygiene Study Abstract: INTRODUCTION Sleep is integral to the health of a person and can have multifaceted contributions to a person including their physical, cognitive, and psychosocial well-being.
- Conditions
- Sleep Disturbance, Sleep Disorder, Insomnia, Critical Illness Myopathy
- Trial name
- NCT05541692
- Testing
- Sleep Hygiene Toolkit
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Southern California
Mitochondrial Diseases, Mitochondrial Myopathies
The KHENERGYZE Study
Mitochondrial diseases, estimated prevalence 1 in 4,300 adults, is caused by pathogenic mutations in genes finally encoding for mitochondrial proteins of the various enzyme complexes of the OXPHOS.
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS Syndrome
- Trial name
- NCT04165239
- Testing
- KH176
- Where
- 4 sites in Denmark, Germany and 2 more
- Volunteers
- 27 people
- Sponsor
- Khondrion BV
Males With X-linked Myotubular Myopathy (XLMTM)
A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded…
- Trial name
- NCT02231697
- Testing
- Non-interventional, retrospective medical chart review
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 161 people
- Sponsor
- Astellas Gene Therapies
X-linked Myotubular Myopathy
A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger.
- Trial name
- INCEPTUS (NCT02704273)
- Where
- 8 sites in United States, Canada and 3 more
- Volunteers
- 34 people
- Sponsor
- Astellas Gene Therapies
Critical Illness Polyneuropathy, Critical Illness Myopathy
Evaluation of the NeuroMuscular Junction Using the Single Fiber Electromyography and Reliability of Train-Of-Four in Critically Ill Patients.
Patients suffering from critical illnesses who are admitted to the Intensive Care Unit (ICU) are often affected by multiple organ failure.
- Conditions
- Critical Illness Polyneuropathy, Critical Illness Myopathy, Weakness Due to Disease, Neuromuscular Blockade
- Trial name
- NCT03893058
- Where
- Italy
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
Immune Mediated Necrotizing Myopathy
Safety and Efficacy Study of Zilucoplan in Subjects With Immune-Mediated Necrotizing Myopathy
The purpose of the study is to evaluate the safety and efficacy of zilucoplan in patients with Immune-Mediated Necrotizing Myopathy (IMNM).
- Trial name
- NCT04025632
- Testing
- zilucoplan
- Where
- 18 sites in United States, France and 2 more
- Volunteers
- 27 people
- Sponsor
- Ra Pharmaceuticals
Dysferlinopathy, LGMD2B Now Classified as LGMDR2
Clinical Outcome Study for Dysferlinopathy
The "Clinical Outcome Study for Dysferlinopathy" is being performed in centres in Europe (UK- Newcastle; Spain- Barcelona, Sevilla; San Sebastian;Denmark, Copenhagen, Italy- Padova; France- Paris,), USA (Charlotte, NC; Columbus…
- Conditions
- Dysferlinopathy, LGMD2B Now Classified as LGMDR2, Miyoshi Myopathy
- Trial name
- Jain COS (NCT01676077)
- Where
- 16 sites in United States, Chile and 7 more
- Volunteers
- 200 people
- Sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
Centronuclear Myopathy
Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies
There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety and tolerability as well as pharmacokinetics (PK), pharmacodynamics (PD) and…
- Trial name
- DyNaMic (NCT04743557)
- Testing
- DYN101
- Where
- 2 sites in France, Germany
- Sponsor
- Dynacure
Centronuclear Myopathy
Natural History Study of Patients With Centronuclear Myopathies
This is a prospective, longitudinal study of the natural disease course intended to recruit approximately 60 patients with centronuclear myopathies (CNM) in Europe and the United States.
- Trial name
- NatHis-CNM (NCT04977648)
- Sponsor
- Dynacure
GNE Myopathy, Distal Myopathy With Rimmed Vacuoles (DMRV)
Efficacy Confirmation Study of NPC-09
GNE myopathy is a distal myopathy that is thought to be caused by a mutation in the GNE gene that encodes an enzyme in the biosynthetic process of aceneuramic acid (typical sialic acid).
- Conditions
- GNE Myopathy, Distal Myopathy With Rimmed Vacuoles (DMRV), Hereditary Inclusion Body Myopathy (hIBM), Nonaka Disease
- Trial name
- NCT04671472
- Testing
- NPC-09
- Where
- 5 sites in Japan
- Volunteers
- 14 people
- Sponsor
- Nobelpharma
Oculopharyngeal Muscular Dystrophy, Muscular Dystrophies
Expiratory Muscle Strength Training (EMST) in Neuromuscular Disorders
The purpose of this study is to investigate the impact of expiratory muscle strength training (EMST) on the swallowing, breathing, oral intake, quality of life and cough function of people with oculopharyngeal muscular dystrophy…
- Conditions
- Oculopharyngeal Muscular Dystrophy, Muscular Dystrophies, Myopathy; Hereditary
- Trial name
- NCT04009408
- Testing
- Expiratory muscle strength therapy (EMST150, Aspire LLC)
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- University of Calgary
Idiopathic Inflammatory Myopathy
A Case-control Study to Assess Risk of Coronary Heart Disease in Idiopathic Inflammatory Myopathy
This study will be co-ordinated by Dr Hector Chinoy, Dr Robert G Cooper (Salford Royal NHS Foundation Trust / The University of Manchester) and Dr Ian N Bruce (Central Manchester University Hospitals NHS Foundation Trust/ The…
- Trial name
- NCT00971828
- Where
- United Kingdom
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Northern Care Alliance NHS Foundation Trust
Intensive Care (ICU) Myopathy, Intensive Care Unit Acquired Weakness
Effect of Neurophysiological Facilitation Techniques in Intensive Care Patients
The aim of this study was to investigate the effect of neurophysiological facilitation techniques on respiratory and functional levels in intensive care patients.
- Trial name
- NCT05282576
- Testing
- NPF Group, Control Group
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people
- Sponsor
- Saglik Bilimleri Universitesi
Amyotrophic Lateral Sclerosis, Muscular Dystrophy
Innovative Ultrasound Technology in Neuromuscular Disease
This study is utilizing ultrasound measurement to measure neuromuscular disease status in adult patients. The hypothesis is the by quantifying ultrasound data, it is possible that ultrasound can be utilized as a tool to determine…
- Conditions
- Amyotrophic Lateral Sclerosis, Muscular Dystrophy, Radiculopathy, Myopathy
- Trial name
- AQUIRe (NCT02104921)
- Where
- United States
- Volunteers
- 223 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Spinal Muscular Atrophy Type 3, Mitochondrial Myopathy
Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial…
- Trial name
- NCT02895789
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Columbia University
Primary Mitochondrial Myopathy
A Trial to Evaluate Safety and Efficacy of Elamipretide Primary Mitochondrial Myopathy Followed by Open-Label Extension
This is a multicenter phase 3 randomized, double-blind, parallel-group, placebo-controlled trial to evaluate the safety and efficacy of daily subcutaneous injections of elamipretide in subjects with primary mitochondrial…
- Trial name
- MMPOWER-3 (NCT03323749)
- Testing
- elamipretide, elamipretide open label treatment
- Where
- 27 sites in United States, Canada and 5 more
- Volunteers
- 218 people
- Sponsor
- Stealth BioTherapeutics Inc.
Systemic Sclerosis, Inflammatory Myopathies
Search for Diagnostic and Prognostic Biomarkers in Systemic Sclerosis and Inflammatory Myopathies
Systemic sclerosis and inflammatory myopathies, which sometimes combine (scleromyositis), have shared pathophysiological elements.
- Trial name
- SCLEROMYOMICS (NCT04917705)
- Testing
- Collection of biological samples
- Where
- France
- Volunteers
- 55 people
- Sponsor
- University Hospital, Strasbourg, France
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2)
Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement.
- Conditions
- Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT01461304
- Testing
- triheptanoin
- Where
- United States
- Sponsor
- Jerry Vockley, MD, PhD