Clinical trials: MYOPATHY
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
Sepsis, Primary Myopathies
Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies
The primary aim of the project is to apply the non-invasive stimulated muscle force assessment system to i) intensive care unit patients and ii) patients with primary myopathy or subclinic myopathy (e.g., Duchenne muscular…
- Trial name
- NCT00735384
- Where
- Switzerland
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
Idiopathic Inflammatory Myopathy, Interstitial Lung Disease
Clinical Study of MMF in Treatment of IIM-ILD and Its Effect on Peripheral Blood Treg Cells
Interstitial lung disease (ILD) is a common pulmonary manifestation of idiopathic inflammatory myopathy (IIM). The overall 5-year mortality is 50%.
- Trial name
- NCT05129410
- Testing
- Mycophenolate Mofetil
- Where
- China
- Volunteers
- 20 people
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies
A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
This will be a double blind, randomised, placebo controlled, single and multiple oral dose study conducted in 3 parts: Part A, Part B and Part C.
- Conditions
- Mitochondrial Diseases, Mitochondrial Respiratory Chain Deficiencies, MELAS Syndrome, Mitochondrial Myopathies
- Trial name
- NCT03888716
- Testing
- KL1333
- Where
- 2 sites in United Kingdom
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Abliva AB
Idiopathic Inflammatory Myopathies
Application of Electrical Impedance Myography (EIM) as a Potential Biomarker of Idiopathic Inflammatory Myopathies
1. To assess changes in impedance parameters in Idiopathic Inflammatory Myopathies (IIMs). 2. To assess whether EIM parameters are reflective of disease severity, based on clinical outcome measures of IIMs.
- Trial name
- NCT03918356
- Testing
- electrical impedance myography, healthy control group
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Yale University
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Telemedicine, Muscular Dystrophies
Telerehabilitation in Proximal Muscle Weakness
The aim of our study is to investigate the effectiveness of two exercise programs supervised by a physiotherapist, performed in the hospital or at their home via electronic connection in a group of LGMD and SMA patients.
- Conditions
- Telemedicine, Muscular Dystrophies, Proximal Myopathy
- Trial name
- NCT04392518
- Testing
- exercise
- Where
- Turkey (Türkiye)
- Volunteers
- 14 people
- Sponsor
- Koç University
Myopathy, Neuropathy
Identification of Tongue Involvement in Late-Onset Pompe Disease
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or…
- Conditions
- Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)
- Trial name
- NCT02765828
- Testing
- Observational study
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Duke University
Covid19, Myopathy
Safety and Efficacy of Inactivated SARS-CoV-2 Vaccine in Immune-related Myopathy (Myasthenia Gravis and Inflammatory Myopathy) Patients ：a Prospective Observational Study
This study is a prospective observational study. We aim to investigate the safety and efficacy of inactivated SARS-CoV-2 vaccine between immune-related myopathy (myasthenia gravis and inflammatory myopathy) patients and health…
- Trial name
- NCT04941079
- Testing
- no intervention
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- First Affiliated Hospital of Chongqing Medical University
Atrial Remodeling, Myocardial Dysfunction
Personalised Prospective Comparison of ARni With ArB in Patients With Natriuretic Peptide eLEvation
Sacubitril-valsartan, an Angiotensin Receptor Blocker-Neprilysin Inhibitor (ARNI), currently marketed for the management of heart failure, has been shown to reduce cardiovascular morbidity and mortality in stage C heart failure…
- Conditions
- Atrial Remodeling, Myocardial Dysfunction, Left Ventricular Remodeling, Left Ventricular Diastolic Dysfunction
- Trial name
- PARABLE (NCT04687111)
- Testing
- Sacubitril-Valsartan, Valsartan
- Where
- 2 sites in Ireland
- Volunteers
- 250 people
- Sponsor
- Mark Ledwidge
Idiopathic Inflammatory Myopathies, Physical Activity
Physical Training in Patients With Idiopathic Inflammatory Myopathies
Physical training may improve physical capacity and health parameters in various systemic autoimmune diseases, including idiopathic inflammatory myopathies.
- Trial name
- NCT03092167
- Testing
- Physical exercises
- Where
- Brazil
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Electrical Remodeling, Rheumatic Diseases
Peripherical Neuromuscular Electrical Stimulation in Systemic Autoimmune Myopathies
Systemic autoimmune myopathies are a heterogeneous group of rheumatic diseases with progressive skeletal muscle weakness. The relevance of the peripherical neuromuscular electrical stimulation has never applied in the patients…
- Conditions
- Electrical Remodeling, Rheumatic Diseases, Myopathy
- Trial name
- NCT03751644
- Testing
- Electrical stimulation
- Where
- Brazil
- Volunteers
- 6 people
- Sponsor
- University of Sao Paulo
Mitochondrial Disease, Neurology
EPI-743 for Metabolism or Mitochondrial Disorders
Background: Mitochondria are the parts of cells that help produce energy. Metabolism is the process by which the body uses energy to help cells grow and reproduce.
- Conditions
- Mitochondrial Disease, Neurology, Myopathy
- Trial name
- NCT01642056
- Testing
- EPI-743
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Myopathy
Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
Background: A mutation in a gene known as ISCU was found to be the cause of a rare myopathy that affects the muscles. Researchers collected clinical samples from people with this myopathy.
- Trial name
- NCT01547767
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Intensive Care (ICU) Myopathy
Neurosciences-Intensive Care Unit Electrical Stimulation
Patients admitted to the Neurosciences Intensive Care Unit (NSICU) are at particular risk of developing ICU-associated weakness and myopathy, given the unique risks of early mobilization in these patients, which include increased…
- Trial name
- NCT03547687
- Testing
- Electrical Stimulation Treatment, Neuromuscular Electrical Stimulation Treatment
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Oregon Health and Science University
Delirium, Withdrawal Syndrome
Early Rehabilitation in Critically Ill Children - The PICU Liber8 Study
This is a pilot quality improvement implementation study that will measure the impact of a rehabilitation bundle implementation on the outcomes of interest.
- Conditions
- Delirium, Withdrawal Syndrome, Hospital Acquired Condition, Critical Illness Myopathy
- Trial name
- PICULiber8 (NCT03573479)
- Testing
- PICU Liber8 Bundle
- Where
- 2 sites in Canada
- Volunteers
- 130 people
- Sponsor
- McMaster University
X-linked Myotubular Myopathy
Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
This study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.
- Trial name
- NCT02453152
- Testing
- History and physical, Tidal breathing, Maximal respiratory pressures
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- University of Florida
Mitochondrial Myopathies
NiaMIT Continuation With Early-stage Mitochondrial Myopathy Patients
The most frequent form of adult-onset mitochondrial disorders is mitochondrial myopathy, often manifesting with progressive external ophthalmoplegia (PEO), progressive muscle weakness and exercise intolerance.
- Trial name
- NCT04538521
- Testing
- Niacin
- Where
- Finland
- Volunteers
- 3 people
- Sponsor
- University of Helsinki
Renal Function Disorder, Critical Illness
Transcutaneous Electrical Nerve Stimulation for Tissues Perfusion
The aim of this study is to determine the effect of transcutaneous electrical nerve stimulation in mechanically ventilated patients on the lower limb and renal tissue perfusion.
- Conditions
- Renal Function Disorder, Critical Illness, Critical Illness Myopathy
- Trial name
- NCT04069871
- Testing
- trans-cutaneous electrical nerve stimulation.
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- Assiut University
Idiopathic Inflammatory Myopathies
Elastography in Patients With Idiopathic Inflammatory Myopathies
The aim of our study was to assess the performance of compression-strain US elastography in patients with idiopathic inflammatory myopathies over time and to study these findings with clinical and functional parameters as well as…
- Trial name
- NCT03897803
- Testing
- strain elastography
- Where
- Egypt
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Benha University