Clinical trials: Metabolic Myopathies
Thymidine Kinase 2 Deficiency
A Study of the Efficacy and Safety of MT1621 in Thymidine Kinase 2 (TK2) Deficiency (Treatment naïve)
This is a Phase 3b, prospective, single-arm, multicenter, open-label treatment study of the efficacy and safety of MT1621 in pediatric and adolescent patients with thymidine kinase 2 deficiency (TK2d).
- Trial name
- NCT04581733
- Testing
- MT1621
- Sponsor
- Zogenix MDS, Inc.
Metabolic Myopathies
Assessment of Energy Metabolism in Metabolic Myopathies
Patients with metabolic myopathies suffer from exercise intolerance due to impaired ability to produce energy and secondary de-conditioning.
- Trial name
- NCT07268287
- Testing
- 12-week Physiotherapy Intervention, 13C-Glucose Breath Test, Doubly labelled water & urine test
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- University of British Columbia
Fructose Metabolism, Inborn Errors, Glycogen Storage Disease
Biomarker for Glycogen Storage Diseases (BioGlycogen)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
- Conditions
- Fructose Metabolism, Inborn Errors, Glycogen Storage Disease, Glycogen Storage Disease Type I, Glycogen Storage Disease Type II
- Trial name
- BioGlycogen (NCT02385162)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Dystrophia Myotonica Type 1, Myotonia Congenita
Lamotrigine as Treatment of Myotonia
Myotonia is a functional limiting symptom where the muscle stiffens on action leading to arrest of movement. Pharmacological treatment may make the difference between a physically restricted and a normal life.
- Conditions
- Dystrophia Myotonica Type 1, Myotonia Congenita, Paramyotonia Congenita, Hyperkalemic Periodic Paralysis
- Trial name
- NCT01939561
- Testing
- Lamotrigine
- Where
- Denmark
- Volunteers
- 27 people
- Sponsor
- Grete Andersen, MD
Hypercholesterolemia, Statin-Associated Myopathy
Safety of Red Yeast Rice for High Cholesterol in Individuals With Statin Intolerance
This study will examine the effect of red yeast rice extract compared to pravastatin on muscle related complaints in individuals with high cholesterol who have previously been unable to tolerate statin medications due to muscle…
- Trial name
- NCT00639223
- Testing
- Red Yeast Rice, Pravastatin, Lifestyle modification program
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- University of Pennsylvania
MELAS Syndrome, Noninsulin-dependent Diabetes Mellitus With Deafness
Mitochondrial nt3243 A>G Mutation in Taiwan
Mitochondrial diseases are multisystem disorders that present with a wide range of clinical manifestations. Mitochondrial DNA nt3243A>G mutation is one of the most common mutations seen in mitochondrial diseases.
- Trial name
- NCT02114554
- Where
- Taiwan
- Volunteers
- 40 people
- Sponsor
- National Taiwan University Hospital
Type 1 Diabetes
The Summer Camp Study 2: Blood Glucose Control With a Bi-Hormonal Endocrine Pancreas
This study will test the hypothesis that a wearable automated bionic pancreas system that automatically delivers both insulin and glucagon can improve glycemic control vs.
- Trial name
- NCT02105324
- Testing
- Bionic Pancreas, Usual Care
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Massachusetts General Hospital
Neurologic Disorder, Paralysis
COMMAND Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis
The Synchron motor neuroprosthesis (MNP) is intended to be used in subjects with severe motor impairment, unresponsive to medical or rehabilitative therapy and a persistent functioning motor cortex.
- Conditions
- Neurologic Disorder, Paralysis, Paralysis; Stroke, Amyotrophic Lateral Sclerosis
- Trial name
- NCT05035823
- Testing
- Motor Neuroprosthesis (MNP)
- Where
- 3 sites in United States
- Volunteers
- 6 people
- Sponsor
- Synchron Medical, Inc.
Infantile Neuroaxonal Dystrophy
Desipramine in Infantile Neuroaxonal Dystrophy (INAD).
This is a research study to find out if clinically prescribed desipramine is effective at improving the symptoms and slowing the progression of Infantile Neuroaxonal Dystrophy (INAD) in affected children.
- Trial name
- NCT03726996
- Testing
- Desipramine
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Duke University
Shoulder Pain, Tendonitis
Treatment of Calcific Tendinitis of the Rotator Cuff
The purpose of this study is to determine whether the combination of removal of the calcification in calcific tendinitis of the shoulder (supraspinatus and/or infraspinatus tendon) by aspiration with a needle and syringe…
- Conditions
- Shoulder Pain, Tendonitis, Calcinosis, Shoulder Impingement Syndrome
- Trial name
- NCT02419040
- Testing
- Barbotage, Corticosteroid injection
- Where
- Norway
- Volunteers
- 220 people
- Sponsor
- Vestre Viken Hospital Trust
Primary Mitochondrial Disease
An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy.
- Trial name
- RePOWER (NCT03048617)
- Where
- 33 sites in United States, Australia and 7 more
- Volunteers
- 215 people
- Sponsor
- Stealth BioTherapeutics Inc.
Statin Adverse Reaction
Quality of Life in Patients With Statin-Associated Myopathy
The proposed study will focus on possible effects of statins on muscle strength and why they become tired more easily, quality of life, and measurements to understand why muscles are not able to fully utilize fats.
- Trial name
- NCT00850460
- Testing
- Statins
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Rockefeller University
Mitochondrial Diseases, Mitochondrial Myopathy
Exercise Training Effects on Muscle Function in Adults With Mitochondrial Myopathy
The goal of this observational study is to learn how exercise training affects molecular processes in skeletal muscle in adults with mitochondrial myopathy, compared with healthy adults.
- Trial name
- MM-EX (NCT07450690)
- Testing
- Unilateral high-intensity interval training (HIIT)
- Where
- Denmark
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Overweight and Obesity, Inflammation; Muscle
Influence of Aerobic Training and Weight Loss on Skeletal Muscle Inflammatory Markers and Muscle Protein Balance in Older Adults
It is estimated that 15% of adults aged 60-70 years, and up to 50% of adults aged 80 years and older are affected by sarcopenia-the age related loss of muscle mass and function.
- Conditions
- Overweight and Obesity, Inflammation; Muscle, Sedentary Lifestyle
- Trial name
- NCT03743675
- Testing
- Diet-Induced Weight Loss, Aerobic Exercise Training
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Miami University
Critical Illness, Muscle Weakness
Can Beta-Hydroxy-beta-Methylbutyrate Supplementation Counteract Muscle Catabolism in Critically Ill Patients?
The rapid decline of muscle mass and function in mechanically ventilated critically ill patients is associated with prolonged length of mechanical ventilation, prolonged intensive care (ICU) and hospital stay, increased ICU and…
- Trial name
- HMB-ICU-CH (NCT03628365)
- Testing
- HMB (beta-hydroxy beta-methylbutyrate)
- Where
- Switzerland
- Volunteers
- 37 people
- Sponsor
- Mette M Berger
Pompe Disease
Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia
The adult onset form can occur between the second and sixth decades of life as a form of proximal myopathy, predominantly in the pelvic girdle area.
- Trial name
- NCT01482494
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- Jordi Perez Lopez
Polyostotic Fibrous Dysplasia
Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome
This study will investigate how a gene mutation (change in DNA) causes the abnormal bone in fibrous dysplasia-a condition in which areas of normal bone are replaced with a fibrous growth similar to a scar.
- Trial name
- NCT00001973
- Where
- United States
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Fibromyalgia
Safety Study of DS-5565 for Treatment of Fibromyalgia Pain in Subjects With Chronic Kidney Disease
DS-5565 (mirogabalin) is being studied as treatment for fibromyalgia (FM) pain. Because it is excreted through the kidneys, people who have reduced kidney function will not process the drug as well as with those with normal…
- Trial name
- NCT02496884
- Testing
- DS-5565
- Where
- 39 sites in United States, Bulgaria and 6 more
- Volunteers
- 56 people
- Sponsor
- Daiichi Sankyo
Hypophosphatasia
Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
The purpose of this study is to assess medical events during follow-up of adult patients having hypophosphatasia and consulting rheumatologists.
- Trial name
- REG-HYPO (NCT05596539)
- Testing
- Data collection
- Where
- 11 sites in France
- Volunteers
- 200 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fibromyalgia, Respiratory Alkalosis and Metabolic Acidosis
Evaluation of Respiratory Function in Fibromyalgia
This study will evaluate respiratory function in people with fibromyalgia and whether or not breathing patterns in this patient group can be explained by stress, emotional or biomechanical variables.
- Conditions
- Fibromyalgia, Respiratory Alkalosis and Metabolic Acidosis, Chronic Hyperventilation
- Trial name
- NCT04098731
- Where
- Sweden
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Uppsala University