Clinical trials: Congenital Myopathy
Myopathy
Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy
Myotonic dystrophy type 1 is a myopathy with complex respiratory pattern and at risk to develop respiratory failure. Classical mode of ventilation are sometimes not tolerated or ineffective in this population.
- Trial name
- NCT01530841
- Testing
- Nocturnal ventilation
- Where
- France
- Volunteers
- 32 people
- Sponsor
- Centre d'Investigation Clinique et Technologique 805
Duchenne Muscular Dystrophy
PDE Inhibitors in DMD Study (Acute Dosing Study)
PDE5A inhibition, which boosts NO-cGMP signaling, will relieve functional muscle ischemia and restore normal blood flow regulation (i.e., functional sympatholysis) during exercise in boys with DMD.
- Trial name
- NCT01580501
- Testing
- Tadalafil and Sildenafil
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Cedars-Sinai Medical Center
Neck; Anomaly, Muscle Weakness
Attentional Focus Influence During Cranio-Cervical Flexion Test
The purpose of this study is to termine if a different attentional focus would alter the motor control in cervical muscles during the cranio-cervical test.
- Conditions
- Neck; Anomaly, Muscle Weakness, Muscle Weakness Condition
- Trial name
- NCT03567122
- Testing
- Internal Focus of Attention, External Focus of Attention, Control
- Where
- Brazil
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Federal University of Health Science of Porto Alegre
Muscular Dystrophies
Self-management Training for Parents With Chronic Muscular Dystrophia
The relentless progressive process of muscular dystrophy requires extraordinary medical, physical, and emotional care with severe consequences for caring parents (increased stress and diminished social, psychological and physical…
- Trial name
- ZRM-CMD-P (NCT02641275)
- Testing
- Structured self-management-training
- Sponsor
- University Children's Hospital, Zurich
Myotonic Dystrophy Type 1
A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1
This study will test the safety, tolerability, and pharmacokinetics of multiple escalating doses of ISIS-DMPKRx administered subcutaneously to adult patients with DM1.
- Trial name
- NCT02312011
- Testing
- IONIS-DMPKRx
- Where
- 8 sites in United States
- Volunteers
- 48 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Muscular Dystrophy, Duchenne
Characterization of DupEx2 Duchenne Muscular Dystrophy
To characterize the clinical phenotype and possible predictive/prognostic factors of patients with Duchenne muscular dystrophy (DMD) due to duplication of exon 2 (Dup2).
- Trial name
- DMDDup2 (NCT06337669)
- Where
- Italy
- Volunteers
- 26 people
- Sponsor
- IRCCS San Raffaele
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)
Duchenne Muscular Dystrophy
A Phase I/II Study of BMN053 in Subjects With Duchenne Muscular Dystrophy (DMD)
The purpose of the study is to see whether BMN053 is safe and effective to use as medication for Duchenne muscular dystrophy (DMD) patients with a mutation around location 53 in the DNA for the dystrophin protein.
- Trial name
- NCT01957059
- Testing
- Regimen Selection Phase Group 2, Regimen Selection Phase Group 3, Treatment Phase Group 4
- Where
- 6 sites in Belgium, France and 3 more
- Volunteers
- 9 people
- Sponsor
- BioMarin Pharmaceutical
Nemaline Myopathy, Inspiratory Muscle Training
Inspiratory Muscle Training in Nemaline Myopathy
Nemaline myopathy is a rare congenital myopathy. Respiratory failure is the main cause of death in these patients. The primary objective of this study is to determine the effect of a 8-week inspiratory muscle training program on…
- Trial name
- NEMTRAIN (NCT03728803)
- Testing
- Threshold IMT, Philips Respironics, Murrysville, PA, USA
- Where
- Netherlands
- Volunteers
- 42 people
- Sponsor
- Radboud University Medical Center
Centronuclear Myopathy
Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
This is the 2 years extension of the prospective and longitudinal study of the natural history and functional status of patients with myotubular myopathy and other centronuclear (CNM) sponsored by Dynacure including ten…
- Trial name
- NatHis-CNM (NCT03351270)
- Testing
- Standardized strength, respiratory and motor function assessments
- Where
- 11 sites in Belgium, France and 3 more
- Volunteers
- 60 people
- Sponsor
- Institut de Myologie, France
Muscular Dystrophy, Duchenne
Study of Fordadistrogene Movaparvovec in Early Stage Duchenne Muscular Dystrophy
The study will evaluate the safety and dystrophin expression following gene therapy in boys with Duchenne Muscular Dystrophy (DMD). It is a single-arm, non-randomized, open-label study
- Trial name
- NCT05429372
- Testing
- PF-06939926
- Where
- 13 sites in United States, Australia
- Volunteers
- 10 people
- Sponsor
- Pfizer
Muscular Dystrophy, Becker, Muscular Dystrophy
A Multicenter Cohort Study of Duchenne and Becker Muscular Dystrophy in Western Chinese Children
This is a prospective, multicenter, longitudinal observational cohort study aimed at understanding the progression of Duchenne Muscular Dystrophy (DMD).
- Conditions
- Muscular Dystrophy, Becker, Muscular Dystrophy, Muscular Dystrophy (DMD), Muscular Dystrophy, Duchenne
- Trial name
- WEST-DBMD (NCT07511920)
- Testing
- No interventions are applied; participants are followed for natural history observation only
- Where
- China
- Volunteers
- 500 people
- Sponsor
- West China Second University Hospital
Becker Muscular Dystrophy
Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping
This is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG).
- Trial name
- NCT01539772
- Where
- 16 sites in United States, Canada and 2 more
- Volunteers
- 85 people
- Sponsor
- Cooperative International Neuromuscular Research Group
Duchenne Muscular Dystrophy
Sleep Intervention in Young Boys with Duchenne Muscular Dystrophy
This project will systematically plan and evaluate the implementation of the Transdiagnostic Sleep and Circadian Intervention for youth (TranS-CY).
- Trial name
- DMD (NCT04529707)
- Testing
- Transdiagnostic Behavioral Sleep Intervention
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- University of Pittsburgh
Fascioscapulohumeral Muscular Dystrophy
Dietary Protein Requirements in Adults With Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting about 4 out of 100,000 individuals.
- Trial name
- FSHD (NCT06785428)
- Testing
- Amino Acid Intake
- Where
- 2 sites in Canada
- Volunteers
- 10 people
- Sponsor
- McGill University
Duchenne Muscular Dystrophy
Trial of Pamrevlumab (FG-3019), in Non-Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)
This is a Phase 2, open-label, single arm trial of pamrevlumab (FG-3019) to estimate pamrevlumab's safety and efficacy in non-ambulatory participants with DMD.
- Trial name
- MISSION (NCT02606136)
- Testing
- Pamrevlumab
- Where
- 10 sites in United States
- Volunteers
- 21 people
- Sponsor
- Kyntra Bio
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
Duchenne Muscular Dystrophy (DMD), Lower Urinary Track Symptoms
Effects of Lumbopelvic Stabilization-based Physiotherapy and Rehabilitation Training in Duchenne Muscular Dystrophy
This study aims to examine the effectiveness of supervised lumbopelvic stabilization in relation to factors associated with lower urinary tract symptoms in children diagnosed with Duchenne Muscular Dystrophy (DMD) who have lower…
- Trial name
- NCT06643923
- Testing
- Exercise, Urotherapy
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people
- Sponsor
- Lokman Hekim University
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
A Phase 2b Study of Zagociguat in Patients With MELAS
PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs.
- Trial name
- PRIZM (NCT06402123)
- Testing
- zagociguat 15mg, zagociguat 30mg
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 43 people
- Sponsor
- Tisento Therapeutics
Gut Microbiome, Gastrointestinal Microbiome
A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Disease
This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records.
- Conditions
- Gut Microbiome, Gastrointestinal Microbiome, Autism, Autism Spectrum Disorder
- Trial name
- NCT04031469
- Testing
- There is no intervention in this study
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- ProgenaBiome
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