Clinical trials: Metabolic Myopathies
Cancer, Cardiac Anomaly
Using NPT to Evaluate Providing PPC as ELNEC-PPC WBT for Nurses
The purpose of this study is to explain the provision of palliative care at the end of life by the implementation of the ELNEC course, as WBT Program using the Normalization Process Theory, that focus attention on how complex…
- Conditions
- Cancer, Cardiac Anomaly, Cystic Fibrosis, Muscular Dystrophy
- Trial name
- ELNEC-PPC (NCT04461561)
- Testing
- end-of-life nursing education consortium-pediatric palliative care as web based-training plus usual care
- Where
- Iraq
- Volunteers
- 172 people, healthy volunteers welcome
- Sponsor
- Altoosi University College
Mitochondrial Disease, Metabolic Myopathy
GDF-15 as a Biomarker for Mitochondrial Disease
Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms from every tissue, especially those with…
- Conditions
- Mitochondrial Disease, Metabolic Myopathy, Muscular Dystrophy
- Trial name
- GDF-15 (NCT02745938)
- Where
- Denmark
- Volunteers
- 97 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Blepharoptosis, Ptosis, Eyelid
Clinical Trial Comparing Two Non-Surgical Treatments for Severe Blepharoptosis
This clinical trial will evaluate two non-surgical devices designed to improve eye lid opening for patients with severe Blepharoptosis (incomplete opening of the eyelids).
- Conditions
- Blepharoptosis, Ptosis, Eyelid, Myasthenia Gravis, Stroke
- Trial name
- NCT04678115
- Testing
- Magnetic Levator Prosthesis (MLP), Kinesiotape Frontalis Sling (KTFS)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Massachusetts Eye and Ear Infirmary
Mitochondrial Myopathy
The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease
Mitochondrial myopathies include various inherited diseases that are caused by damage to the mitochondria, energy-producing structures that fuel the body's processes.
- Trial name
- NCT00457314
- Testing
- Exercise
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Glycogen Storage Disease Type III
Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies
Patients suffering from the metabolic myopathy Glycogen Storage Disease type IIIa (GSDIIIa) have a problem releasing sugar stored in cells that is needed for energy production.
- Trial name
- NCT02448667
- Testing
- FAXE Kondi, Faxe Kondi Free
- Where
- Denmark
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Amyotrophic Lateral Sclerosis
Neuromuscular Magnetic Stimulation in ALS Patients
Aim of the study is to verify whether neuromuscular magnetic stimulation can improve muscle function in spinal-onset Amyotrophic Lateral Sclerosis (ALS) patients.
- Trial name
- NMS-ALS (NCT03618966)
- Testing
- Neuromuscular magnetic stimulation (NMMS)
- Volunteers
- 22 people
- Sponsor
- University of Roma La Sapienza
Pulmonary Disease, Chronic Obstructive, Amyotrophic Lateral Sclerosis
European Home Mechanical Ventilation Registry
The European Home Mechanical Ventilation Registry (EHMVR) will enable a thorough evaluation of HMV by documenting the characteristics of HMV patients and their treatment.
- Conditions
- Pulmonary Disease, Chronic Obstructive, Amyotrophic Lateral Sclerosis, Spinal Cord Injury, Muscular Dystrophies
- Trial name
- EHMVR (NCT02315339)
- Where
- Germany
- Volunteers
- 37 people
- Sponsor
- ResMed
Becker Muscular Dystrophy, McArdle Disease
Fast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases
The purpose of the study is to explore the biomarker Fast Troponins response to exercise in patients with Becker muscular dystrophy, Limb-girdle muscular dystrophy and McArdle disease
- Conditions
- Becker Muscular Dystrophy, McArdle Disease, Limb-Girdle Muscular Dystrophy Type 2
- Trial name
- NCT04349566
- Where
- Denmark
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Mads Peter Godtfeldt Stemmerik
Osteopenia, Spinal Muscular Atrophy
Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions
Children with neuromuscular disabilities and limited ambulation are at significant risk for decreased bone mineral density (BMD) and increased incidence of fracture.
- Conditions
- Osteopenia, Spinal Muscular Atrophy, Cerebral Palsy, Muscular Dystrophy
- Trial name
- NCT02428673
- Testing
- Assisted Standing Treatment Program
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Gillette Children's Specialty Healthcare
Metabolic Myopathies, Exercise Test
Metabolic Exercise Testing
Exertional symptoms are the hallmarks of metabolic myopathies, supporting the concept of using functional tests when this diagnosis is suspected.
- Conditions
- Metabolic Myopathies, Exercise Test, Myalgia
- Trial name
- RANNOU (NCT02362685)
- Testing
- functional test, matching genotype with phenotype
- Where
- France
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
Post-Acute COVID-19 Syndrome, ME/CFS
Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research
The unhide® Project is a non-interventional, longitudinal research study designed to establish a secure data repository of demographic, health, and lifestyle information from individuals with brain inflammation and related…
- Conditions
- Post-Acute COVID-19 Syndrome, ME/CFS, Rheumatic Arthritis, Juvenile Rheumatoid Arthritis (JRA)
- Trial name
- NCT04806620
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Brain Inflammation Collaborative
Lipin-1 Deficiency
International Multicenter Study on Lipin-1 Deficiency
LIPIN1 is an international registry that allows the collection of data on the follow-up, management and treatment of patients with Lipin-1 deficiency.
- Trial name
- LIPIN1 (NCT05564520)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Imagine Institute
Lifestyle, Healthy, Muscle Weakness
RE-inventing Strategies for Healthy Ageing; Recommendations and Tools
The goal of the RESTART RCT is to examine whether a complex lifestyle intervention, coordinated with municipal and non-government organizations (NGO), can establish and preserve improvements in risk factors and functional…
- Conditions
- Lifestyle, Healthy, Muscle Weakness, Abdominal Obesity, Cardiometabolic Syndrome
- Trial name
- RESTART (NCT06122441)
- Testing
- Complex lifestyle intervention, Physical activity monitoring and recommendations
- Where
- Norway
- Volunteers
- 119 people
- Sponsor
- University of Tromso
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Diabetes Mellitus, Obesity
Investigating Muscle Failure in Diabetic Myopathy
The goal of this observational study is to assess if diabetes and obesity are independently related to functional and structural muscle deficits, and how muscular deficits relate to metabolic properties of diabetes and obesity.
- Conditions
- Diabetes Mellitus, Obesity, Chronic Hyperglycaemia, Weight Loss
- Trial name
- NCT05685927
- Testing
- 6-months of medically assisted glycemic improvement, Bariatric surgery
- Where
- Denmark
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Mitochondrial Myopathies
MABs Therapy m.3243A>G Mutation Carriers
Rationale: Mitochondrial disorders are progressive, often fatal multisystem disorders, in 20-25% of the cases caused by heteroplasmic mutations in the mitochondrial DNA (mtDNA).
- Trial name
- MABS01 (NCT05063721)
- Testing
- autologous mesoangioblasts
- Where
- Netherlands
- Volunteers
- 6 people
- Sponsor
- Maastricht University
Muscle Loss, Disuse Atrophy
Preventing Bed-rest Induced Muscle Loss in the Elderly
Episodes of inactivity due to hospitalisation, as short as 5 days, are associated with rapid muscle and strength loss in the elderly.
- Conditions
- Muscle Loss, Disuse Atrophy, Protein Metabolism, Prehabilitation
- Trial name
- NCT04422665
- Testing
- Resistance exercise
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Birmingham
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)
The goal of this clinical trial is to evaluate the long-term safety and tolerability of zagociguat in patients with MELAS who completed study medication treatment in the lead-in study TIS6463-203.
- Trial name
- NCT06961344
- Testing
- zagociguat 15mg
- Where
- 16 sites in United States, Australia and 3 more
- Volunteers
- 37 people
- Sponsor
- Tisento Therapeutics
Muscle Cramps Aggravated, Diabetes Mellitus
Botulinum Toxin for Cramps in Diabetic Neuropathy
Objective: previous studies suggest that botulinum toxin A (BoNT/A) can reduce muscle hyperactivity. Research Design and Methods: a single-center, double-blind and placebo-controlled study investigating the efficacy and safety of…
- Trial name
- NCT03238898
- Testing
- Botulinum toxin type A, Normal saline
- Volunteers
- 50 people
- Sponsor
- Presidio Ospedaliero Garibaldi-Centro
Fibromyalgia, Duloxetine
Duloxetine Metabolism and Fibromyalgia
People with fibromyalgia report generalized body pain ("pain all over"), increased sensitivity to painful stimulation, chronic tiredness or low energy, sleep problems, and other physical and functional problems.
- Trial name
- DILIGENT (NCT06866444)
- Testing
- Observational
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Utah