Clinical trials: Metabolic Myopathies
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a powered knee-hip dermoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland) in patients with neuromuscular disorders, ii)…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-NMD1 (NCT05200702)
- Testing
- Knee-hip Powered Soft Exoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland)
- Where
- France
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Dermatomyositis, Idiopathic Inflammatory Myopathies
Sodium Thiosulfate for Treatment of Calcinosis Associated With Juvenile and Adult Dermatomyositis
Background: Dermatomyositis (DM) and juvenile dermatomyositis (JDM) cause inflammation in the muscles. People with DM and JDM can develop calcium deposits in places they should not, known as calcinosis.
- Trial name
- NCT03267277
- Testing
- Sodium Thiosulfate
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Mitochondrial Myopathy
Pilot Compassionate Use Study of Thioctic Acid Treatment in Mitochondrial Myopathy
OBJECTIVES: I. Assess the efficacy of thioctic acid in treating a single patient with mitochondrial myopathy.
- Trial name
- NCT00004770
- Testing
- thioctic acid
- Volunteers
- 1 people
- Sponsor
- National Center for Research Resources (NCRR)
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)
Inclusion Body Myositis, Myotonic Dystrophy
Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders
Currently, there are no standardised fall risk scores or guidelines on when to use appropriate assistive gait devices (AGDs) for people with neuromuscular disorders (NMDs).
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy, Limb-girdle and Facioscapulohumeral Muscular Dystrophies, Pompe Disease
- Trial name
- FBIndex (NCT06605612)
- Testing
- FBIndex
- Where
- Germany
- Volunteers
- 108 people
- Sponsor
- LMU Klinikum
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
The investigators are researching families with inherited inclusion body myopathy (IBM) and/or Paget disease of bone (PDB) and/or dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene.
- Conditions
- Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone, Frontotemporal Dementia, Myopathy
- Trial name
- NCT01353430
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of California, Irvine
Arthritis, Gout
Phone-Based Based Walk With Ease Program for Adults With Arthritis
The objective of this study is to examine the short-term (6-weeks and 6 months) and long-term (1 year) effects of a phone-based version of Walk With Ease intervention.
- Conditions
- Arthritis, Gout, Fibromyalgia, Rheumatoid Arthritis
- Trial name
- NCT05289544
- Testing
- Phone-Based Walk With Ease
- Where
- United States
- Volunteers
- 267 people, healthy volunteers welcome
- Sponsor
- University of South Carolina
Duchenne Muscular Dystrophy
Wearable Technology to Evaluate Hyperglycemia and HRV in DMD - Longitudinal Aim
Duchenne Muscular Dystrophy (DMD) is an X-linked disorder that causes muscle wasting, cardiopulmonary failure, and premature death.
- Trial name
- NCT06093100
- Testing
- wearable technology
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Vanderbilt University Medical Center
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Chronic Pain, Fibromyalgia
Effects of Fasting on Self Efficacy
The study aims to investigate if a 7 day therapeutic fasting regimen will affect self-efficacy of patients with chronic diseases the effects of fasting on physical and mental well-being, quality of life and body awareness/image…
- Conditions
- Chronic Pain, Fibromyalgia, Rheumatoid Arthritis, Gout
- Trial name
- TheraFast (NCT02113111)
- Testing
- Fasting
- Where
- Germany
- Volunteers
- 120 people
- Sponsor
- Universität Duisburg-Essen
Mitochondrial Myopathies
Niacin Supplementation in Healthy Controls and 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
- NiaMIT (NCT03973203)
- Testing
- Niacin
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- University of Helsinki
Arthritis, Asthma
Integrating Behavioral Health and Primary Care for Comorbid Behavioral and Medical Problems
Behavioral problems are part of many of the chronic diseases that cause the majority of illness, disability and death. Tobacco, diet, physical inactivity, alcohol, drug abuse, failure to take treatment, sleep problems, anxiety…
- Conditions
- Arthritis, Asthma, Chronic Obstructive Lung Disease, Diabetes
- Trial name
- IBHPC (NCT02868983)
- Testing
- Integration
- Where
- United States
- Volunteers
- 4,025 people
- Sponsor
- University of Vermont
Mitochondrial Myopathy, MELAS Syndrome
Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
OBJECTIVES: I. Study the metabolism of pyruvate and related problems in patients with lactic acidemia. II. Define the nature of the metabolic defect.
- Conditions
- Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
- Trial name
- NCT00004353
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Muscle Atrophy, Muscle Disuse Atrophy
Examining Sex-based Differences in Metabolic and Mechanistic Responses to Disuse Induced Muscle Atrophy
The purpose of the proposed research is to define whether there are differences between females and males (i.e. sex-based differences) in the metabolic and mechanistic regulation of disuse-induced muscle atrophy in vivo in humans.
- Trial name
- NCT05314413
- Testing
- Single Leg Immobilization
- Where
- Canada
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- McGill University
Spina Bifida, Neuromuscular Diseases
Metformin in Children With Motor Deficit
Obesity with insulin resistance in the paediatric population provides an increasing challenge. Children with neurological or neuromuscular diseases are even more prone to obesity: their locomotor impairment leads to an…
- Trial name
- NCT00720161
- Testing
- Metformin
- Where
- Belgium
- Volunteers
- 42 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
MELAS Syndrome, Mitochondrial Diseases
Ketones & Mitochondrial Heteroplasmy
The current study is a prospective evaluation of the ability of ketosis to shift mitochondrial DNA (mtDNA) heteroplasmy in subjects harboring a known mutation in their mtDNA at position 3243 (A>G).
- Trial name
- NCT01252979
- Testing
- Medium-Chain Triglycerides
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- The University of Texas Health Science Center, Houston
Anarthria, Dysarthria
Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia
The purpose of this study is to obtain preliminary device safety information and demonstrate proof of principle (feasibility) of the ability of people with tetraplegia to control a computer cursor and other assistive devices with…
- Conditions
- Anarthria, Dysarthria, Tetraplegia, Spinal Cord Injuries
- Trial name
- BG-Speech-01 (NCT05724173)
- Testing
- BrainGate Neural Interface System
- Where
- 2 sites in United States
- Volunteers
- 3 people
- Sponsor
- Leigh R. Hochberg, MD, PhD.
Aging, Metabolism Disorder
The Metabolic Effects of β-hydroxybutyrate on Working Skeletal Muscle
The goal of this clinical trial is to test ketone bodies in healthy elderly and young individuals. The main question it aims to answer are: Do ketone bodies improve skeletal muscle function? Participants will ingest a ketone…
- Conditions
- Aging, Metabolism Disorder, Ketonemia, Muscle Disorder
- Trial name
- NCT05732909
- Testing
- D-β-hydroxybutyrate/D 1,3 butanediol monoester
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
MELAS Syndrome
Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
The purpose of this study is to assesses the clinical efficacy of oral supplementation with glutamine over 3 years.
- Trial name
- NCT05255328
- Testing
- Glutamine oral supplement
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Hospital Universitario 12 de Octubre
Diabetes Mellitus, Type 2, Polyneuropathy Diabetes
Resistance Training in Patients With Diabetic Neuropathy
This is a population-based study of type 2 diabetes patients with and without neuropathy recruited from the Danish National Type 2 Diabetes cohort (DD2).
- Conditions
- Diabetes Mellitus, Type 2, Polyneuropathy Diabetes, Diabetes Complications, Diabetic Peripheral Neuropathy
- Trial name
- NCT03252132
- Testing
- 12-week resistance training
- Where
- Denmark
- Volunteers
- 109 people, healthy volunteers welcome
- Sponsor
- Danish Pain Research Center