Clinical trials: Congenital Muscular Dystrophy
Myotonic Dystrophy 1, Muscular Dystrophies
Myotonic Dystrophy Type 1 Aerobic Exercise Study
Myotonic dystrophy type 1 (DM1) is a genetic disease that primarily targets skeletal muscle resulting in severe weakness and muscle loss.
- Trial name
- DM1ex (NCT04187482)
- Testing
- Exercise training
- Where
- Canada
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- McMaster University
Healthy Volunteer, Muscular Dystrophies
Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
This is a Phase 1 2-part, single-center, open-label study in healthy male volunteers. Part A will assess the absorption, metabolism, excretion, and pharmacokinetics of one oral dose of radiolabeled EDG-5506.
- Conditions
- Healthy Volunteer, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT05730842
- Testing
- EDG-5506 Tablet, Radiolabeled EDG-5506 Suspension, Radiolabeled EDG-5506 Intravenous
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Edgewise Therapeutics, Inc.
Type 2 Diabetes
Influence of Endothelial Function on Central and Peripheral Causes Of Exercise Impairment in Type 2 Diabetes
This study will evaluate the effects of impaired blood flow regulation on exercise. It will also determine whether the effects are more important in the heart or in the skeletal muscle tissue during exercise.
- Trial name
- InsITE (NCT00786019)
- Testing
- Exercise program, Ascorbic Acid (Vitamin C)
- Where
- United States
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
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
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy
Wearable Technology to Assess Gait Function in SMA and DMD
The purpose of this project is to devise instrumented insoles capable of accurately measuring gait at each footfall, over multiple hours in any environment.
- Trial name
- NCT04193085
- Testing
- Observational
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- Columbia University
Duchenne Muscular Dystrophy
Motor Imagery in Duchenne Muscular Dystrophy
Motor imagery (MI) can be defined as a dynamic process in which the person is mentally stimulated without performing the given motor movement.
- Trial name
- NCT05559710
- Where
- Turkey (Türkiye)
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Muscular Dystrophies
First Time in Human (FTIH) Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Single and Repeat Doses of GSK3439171A in Healthy Subjects and to Assess Food Effect
The FTIH study with GSK3439171A will evaluate the safety of GSK3439171A in healthy subjects in order to avoid confounding factors due to the disease or concomitant drugs in patients.
- Trial name
- NCT03627494
- Testing
- GSK3439171A
- Where
- United States
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Congenital Myotonic Dystrophy
Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy
Congenital Myotonic Dystrophy (CDM) is a multi-systemic, dominantly inherited disorder caused by a trinucleotide repeat expansion (CTGn) in the DMPK gene.
- Trial name
- TREAT-CDM (NCT03059264)
- Testing
- Natural history
- Where
- 3 sites in United States, Canada and 1 more
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Virginia Commonwealth University
Duchenne Muscular Dystrophy (DMD)
Peabody Developmental Motor Scaling In Children With Period Duchenne Muscular Dystrophy
To perform the reliability and validity study of the Peabody Developmental Motor Scale (Peabody Developmental Motor Scales-2) in children with Duchenne Muscular Dystrophy (DMD).
- Trial name
- NCT05990608
- Testing
- Peabody Developmental Motor Scales-2, PDMS
- Where
- Turkey (Türkiye)
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Ondokuz Mayıs University
Limb Girdle Muscular Dystrophies
Motor Parameters in Patients With Limb Girdle Muscular Dystrophy
The primary objective of the study is to perform 2-year follow up with motor parameters evolution using instrumental assessments in patients with limb girdle muscular dystrophie, and to identify which motor parameters are…
- Trial name
- EIDY (NCT04772027)
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
MDC1A
LAMA2 Genetic Correction
Merosin-deficient congenital muscle dystrophy type 1a (MDC1a), or LAMA2 muscular dystrophy (LAMA2-MD) is a severe autosomal recessive form of muscular dystrophy that is caused by homozygous or compound heterozygous mutations in…
- Trial name
- NCT06582537
- Testing
- Participants sample collection
- Where
- Netherlands
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Maastricht University
Duchenne Muscular Dystrophy (DMD)
A Trial to Investigate the Safety and Pharmacokinetics of GRT6019 in Healthy Male Participants
The purpose of this trial is to assess the safety, tolerability, and PK of 3 doses of GRT6019 in healthy male participants. This Phase I trial will be a multiple dose trial in healthy male participants with administration of…
- Trial name
- NCT07347548
- Testing
- GRT6019
- Where
- France
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Grünenthal GmbH
Myotonic Dystrophy 1, Dysphagia, Oropharyngeal
Profile of Dysphagia in Myotonic Dystrophy Type 1 (DM1)
The goal of this observational study is to learn about swallowing difficulties (dysphagia) in patients living with myotonic dystrophy type 1 (DM1).
- Trial name
- SwallowDM1 (NCT05865483)
- Where
- United Kingdom
- Volunteers
- 177 people, healthy volunteers welcome
- Sponsor
- University College, London
Facioscapulohumeral Muscular Dystrophy
Effectiveness of Upper Extremity Rehabilitation in pwFSHD (Patient With Facioscapulohumeral Dystrophia)
Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most common forms of muscular dystrophy, characterized by pronounced skeletal weakness and with a broad spectrum of diseases.
- Trial name
- NCT05178706
- Testing
- upper extremity rehabilitation program, Results of assessment
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Myotonic Muscular Dystrophy
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy
OBJECTIVES: I. Examine the interrelationships between muscle wasting (phenotype), the degree of myotonic dystrophy (DM) gene expression (genotype) in patients with DM. II. Characterize the insulin resistance in these patients.
- Trial name
- NCT00004769
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Muscular Dystrophies, Limb-Girdle Muscular Dystrophy Type 2B
Dysferlinopathy Protein in Peripheral Blood Monocytes.
The objective of the study is to answer the following important questions. Deficiency of the dysferlin protein is the cause of a very rare limb-girdle muscular dystrophy (LGMD-2B) that leads to significant disability.
- Conditions
- Muscular Dystrophies, Limb-Girdle Muscular Dystrophy Type 2B, Miyoshi Myopathy, Distal Myopathy With Anterior Tibial Onset
- Trial name
- NCT06507215
- Testing
- Protein analysis
- Where
- Spain
- Volunteers
- 149 people, healthy volunteers welcome
- Sponsor
- Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
Duchenne Muscular Dystrophy
Virtual Reality in Individuals With Duchenne Muscular Dystrophy
With the growing accessibility of computer-assisted technology, one option for rehabilitation programs for individuals with Duchenne muscular dystrophy (DMD) is the use of virtual reality environments to enhance motor practice.
- Trial name
- NCT03002298
- Testing
- DMD gesture task, DMD button-press task, Control group gesture task
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Muscular Dystrophies, Myopathies
Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases
This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases.
- Conditions
- Muscular Dystrophies, Myopathies, Spinal Muscular Atrophy (SMA), Charcot Marie Tooth Disease
- Trial name
- NCT06666816
- Testing
- inapplicable
- Where
- 2 sites in Italy
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Duchenne Muscular Dystrophy
DART Electrical Impedance Myography (EIM) Trial in Duchenne Muscular Dystrophy (DMD) and Healthy Controls
Physicians seek a method to assess neuromuscular disease that is both non-invasive and quantifiable. Many patients do not tolerate standard current day assessment tools (such as needle electromyogram), and Electrical Impedance…
- Trial name
- NCT01523964
- Testing
- Testing with EIM
- Where
- 6 sites in United States
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Dart Therapeutics. LLC