Clinical trials: Muscular Dystrophies
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
Amyotrophic Lateral Sclerosis, Brainstem Stroke
Optimizing BCI-FIT: Brain Computer Interface - Functional Implementation Toolkit
This project adds to non-invasive BCIs for communication for adults with severe speech and physical impairments due to neurodegenerative diseases.
- Conditions
- Amyotrophic Lateral Sclerosis, Brainstem Stroke, Muscular Dystrophies, Parkinson's Disease and Parkinsonism
- Trial name
- BCI-FIT (NCT04468919)
- Testing
- BCI-FIT multi-modal access, BCI-FIT adaptive signal modeling, BCI-FIT active querying
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
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
Muscular Dystrophies, Becker Muscular Dystrophy
Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies
Duchenne muscular dystrophy (DMD) , caused by mutations in the DMD gene, is the most common and most severe progressive dystrophy of the child.
- Conditions
- Muscular Dystrophies, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy
- Trial name
- biodystromirs (NCT02109692)
- Testing
- blood sample
- Where
- France
- Volunteers
- 186 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Duchenne Muscular Dystrophy
Heart Rate Variability in Individuals With Duchenne Muscular Dystrophy
A cross-sectional study was carried out, in which 40 boys, aged 11 to 18 years, were evaluated. The recruitment of groups was carried out at the neuromuscular disease outpatient clinic of the Federal University of São Paulo…
- Trial name
- NCT04740554
- Testing
- Duchenne Muscular Dystrophy group with Deflazacort, Duchenne Muscular Dystrophy group with Prednisone/Predisolone, Duchenne Muscular Dystrophy group without Corticosteroids therapy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Myopathy, Muscular Dystrophies
Muscle Health Measurements Using Electrical Impedance Myography
This study is being done to further develop a device, the mScan, to measure muscle health as compared to measurements of muscle health using MRI (magnetic resonance imaging).
- Conditions
- Myopathy, Muscular Dystrophies, Myositis, Myofibrillar Myopathy
- Trial name
- NCT07502989
- Testing
- Electrical Impedance Myography
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Hereditary Disease
Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders
Developing a new non-invasive prenatal test for single gene disorders from cell free fetal DNA, retrieved from the mothers blood.
- Trial name
- NCT02339402
- Where
- 2 sites in Netherlands
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
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
Myotonic Dystrophy Type 2, Myotonic Dystrophy Type 1
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2
Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life.
- Trial name
- BraCE-DM2 (NCT05854433)
- Testing
- Non-interventional study
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Muscular Dystrophy
The Study of Skeletal Muscle Blood Flow in Becker Muscular Dystrophy
This pilot study tests the hypothesis that the medication nitric oxide extract from beetroot juice improves blood flow to the skeletal muscle during exercise.
- Trial name
- NCT02653833
- Testing
- Tadalafil 20 MG, beetroot juice extract
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Cedars-Sinai Medical Center
Duchenne Muscular Dystrophy (DMD)
To Compare the Pharmacokinetics Profiles of ISO 20, IBU 200 and IBU Plus ISO Combinations 200 + 20
This study will evaluate the pharmacokinetics plasma profile of 3 treatments: ISO 20, IBU 200 and IBU and ISO combinations (200 +20) given in single dose.
- Trial name
- ISOFEN1 (NCT01478022)
- Testing
- Isosorbide Dinitrate, Ibuprofen, Ibuprofen and Isosorbide Dinitrate combination
- Where
- Italy
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Parent Project, Italy
Duchenne Muscular Dystrophy
Evaluation of Home Based Assessments on Participants With DMD
This study is designed to evaluate the feasibility, wearability and participant satisfaction of novel outcome assessment tools in DMD patients which are performed in the home environment.
- Trial name
- NCT05657938
- Testing
- Wearable Device, Duchenne Video Assessment (DVA)
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Solid Biosciences Inc.
Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA)
Self-Efficacy Enhancement Among Online Support Group of Primary Caregivers of Children With Neuro Muscular Dystrophy
The goal of this clinical trial is to learn if providing a multicomponent intervention improves the confidence of caregivers of children with DMD or SMA.
- Trial name
- SEE-NMD (NCT07356063)
- Testing
- Multicomponent Intervention
- Where
- Pakistan
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Aga Khan University
Myotonic Dystrophy 1, Myotonic Dystrophy 2
Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study
The natural history of brain affection in myotonic dystrophy types 1 and 2 is still unknown. The investigators designed a 5-year longitudinal neuropsychological and neuroimaging follow-up study to address this issue.
- Trial name
- NCT02729597
- Testing
- medical history, neurological clinical examination, neuropsychological testing
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bonn
Facioscapulohumeral Muscular Dystrophy
Unraveling Metabolic Involvement in Facioscapulohumeral Dystrophy Through Metabolomics
The pathogenesis of facioscapulohumeral dystrophy (FSHD), one of the most prevalent types of inherited muscle disease, is unknown.
- Trial name
- METIN-FSHD (NCT06086548)
- Testing
- metabolomic on plasma sample
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University Hospital, Angers
Myotonic Dystrophy 1
Venous Thromboembolism in Myotonic Dystrophy Type 1
Investigators identified a high risk of deep vein thrombosis and pulmonary embolism in patients presenting myotonic dystrophy type 1 treated in our hospital, 10 times higher than general population matched on age and sex.
- Trial name
- DM1-VTE (NCT03424460)
- Testing
- Haemostasis tests, Monocytes and megacaryocytes culture and RNA extraction, RNA extraction
- Where
- France
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency)
Evaluation of Limb-Girdle Muscular Dystrophy
The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD.
- Conditions
- Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency), Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency), Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)
- Trial name
- NCT00893334
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Cooperative International Neuromuscular Research Group
COVID-19, Disabilities Multiple
COVID-19 Pandemic and Parents of Disabled Children
Pandemic period could affect the disabled children's rehabilitation and follow-up negatively because of preventive measures and this could create adverse results on their parents.
- Conditions
- COVID-19, Disabilities Multiple, Cerebral Palsy, Muscular Dystrophies
- Trial name
- NCT04525742
- Testing
- Difficulties lived by disabled children's parents in the period of COVID-19 pandemic
- Where
- Turkey (Türkiye)
- Volunteers
- 309 people, healthy volunteers welcome
- Sponsor
- Gaziosmanpasa Research and Education Hospital
Duchenne and Becker Muscular Dystrophy, Polycytemia Vera
Placebo-Corrected Effects of Therapeutic Dose (100 mg) and Supratherapeutic Dose (300 mg) of ITF2357 (Givinostat) and Moxifloxacin on QT/QTC Interval
The study will evaluate the effect of a therapeutic dose and a supratherapeutic dose of ITF2357 on the QT/QTc interval.
- Trial name
- NCT04821063
- Testing
- ITF2357 10 mg/mL, Moxifloxacin Hydrochloride
- Where
- Canada
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Italfarmaco
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