Clinical trials: Facio-Scapulo-Humeral Dystrophy
Muscular Dystrophy, Facioscapulohumeral
Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy
The goal of this observational study is to learn the patient journey, disease burden, living situation, quality of life and etc. in patients with Facioscapulohumeral Muscular Dystrophy in all sex/gender and age groups.
- Trial name
- NCT06517498
- Testing
- No Intervention
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Xi'an Jiaotong University
Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)
A Registered Cohort Study on FSHD1
The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.
- Trial name
- NCT04369209
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Ning Wang, MD., PhD.
Facioscapulohumeral Muscular Dystrophy 1a
Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy with approximately 500 patients in Denmark.
- Trial name
- NCT02541292
- Testing
- No intervention, observational
- Where
- Denmark
- Volunteers
- 10 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Facio-Scapulo-Humeral Dystrophy
Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD)
The clinical diagnosis of Facio-Scapulo-Humeral Muscular Dystrophy (FSHMD) requires the movement of patients to a medical centre and a lengthy examination involving medical personnel, and may be underestimated in the most…
- Trial name
- CV4DIAGNOSIS (NCT04377217)
- Testing
- Video recording
- Where
- France
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Nice
Facioscapulohumeral Muscular Dystrophy, FSHD
A Study to Evaluate Del-brax (Also Referred to as AOC 1020) in Participants With FSHD
A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1020 for the Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)
- Conditions
- Facioscapulohumeral Muscular Dystrophy, FSHD, FSHD - Facioscapulohumeral Muscular Dystrophy, FSHD1
- Trial name
- FORTITUDE-3 (NCT07038200)
- Testing
- AOC-1020
- Where
- 46 sites in United States, Canada and 8 more
- Volunteers
- 200 people
- Sponsor
- Avidity Biosciences, Inc.
Inclusion Body Myositis, Myotonic Dystrophy 1
The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.
The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb…
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy 1, Myotonic Dystrophy 2, Facio-Scapulo-Humeral Dystrophy
- Trial name
- Risk of fall (NCT07072676)
- Testing
- Assistive gait devices combined with physiotherapy
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- LMU Klinikum
Muscular Dystrophy, Facioscapulohumeral
Randomized Study of Albuterol in Patients With Facioscapulohumeral Muscular Dystrophy
OBJECTIVES: I. Determine whether albuterol increases strength in patients with facioscapulohumeral dystrophy as measured by quantitative voluntary isometric contraction testing. II.
- Trial name
- NCT00004685
- Testing
- albuterol
- Volunteers
- 90 people
- Sponsor
- Ohio State University
FSHD, FSHD1
Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Conditions
- FSHD, FSHD1, FSHD2, FMD
- Trial name
- FORTITUDE-OLE (NCT06547216)
- Testing
- AOC 1020
- Where
- 17 sites in United States, Canada and 1 more
- Volunteers
- 84 people
- Sponsor
- Avidity Biosciences, Inc.
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
Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1)
Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders
The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD).
- Conditions
- Pompe Disease (Late-onset), Myotonic Dystrophy Type 1 (DM1), Myotonic Dystrophy Type 2, Spinal Muscular Atrophy Type 3
- Trial name
- NCT04907162
- Testing
- Beck depression inventory fast screen, German Pain Inventory, Brief Pain Inventory
- Where
- Germany
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- LMU Klinikum
Muscle Diseases
Acceptance and Commitment Therapy for Muscle Disease
In adults, muscle diseases are usually chronic long-term conditions that do not have a definitive cure. Supportive care has been shown to reduce complications from muscle disease and improved survival in some cases.
- Trial name
- ACTMuS (NCT02810028)
- Testing
- Acceptance and Commitment Therapy (ACT)
- Where
- United Kingdom
- Volunteers
- 155 people
- Sponsor
- King's College Hospital NHS Trust
Facioscapulohumeral Muscle Dystrophy
Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled Study
The hypotheses is that regular post exercise supplementation increase fitness and daily activity level in patients with Fascioscapulohumeral (FSH) muscular dystrophy.
- Trial name
- FSHD (NCT01618331)
- Testing
- Regular exercise, Protein-carbohydrate supplementation
- Where
- Denmark
- Volunteers
- 42 people
- Sponsor
- Grete Andersen, MD
Facioscapulohumeral Muscular Dystrophy
Quantitative Assessment of Orofacial Muscle Function in FSHD
The goal of this study is to validate a new method for the assessment of orofacial muscles in FSHD affected individuals
- Trial name
- NCT06425445
- Testing
- Orofacial function assessment tests
- Where
- Belgium
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University of Mons
Facioscapulohumeral Muscular Dystrophy (FSHD)
Evaluate Safety and Biological Activity of ATYR1940 in Participants With Early Onset Facioscapulohumeral Muscular Dystrophy
The purpose of this study is to assess the safety and biological activity of ATYR1940 in participants with early onset FSHD.
- Trial name
- FSHD (NCT02603562)
- Testing
- ATYR1940
- Where
- 7 sites in United States, France and 1 more
- Volunteers
- 8 people
- Sponsor
- aTyr Pharma, Inc.
Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue.
- Conditions
- Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, Muscular Dystrophy, Myotonic Dystrophy Type 1
- Trial name
- NCT00082108
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Facioscapulohumeral Muscular Dystrophy (FSHD)
A Study of SAT-3247 to Evaluate the Safety, Tolerability, and Efficacy in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
This is a two-part, Phase 2, randomized, placebo-controlled, double-blind study, followed by a randomized active treatment period, to evaluate the safety and efficacy of orally administered forazapadin (SAT-3247) in adult…
- Trial name
- NCT07872306
- Testing
- forazapadin
- Volunteers
- 51 people
- Sponsor
- Satellos Bioscience, Inc.
Developmental Disability, Intellectual Disability
Validation of Optical Genome Mapping for the Identification of Constitutional Genomic Variants in a Postnatal Cohort
The purpose of this research use only (RUO) study is to detect genomic structural variants (SVs) in human DNA by Optical Genome Mapping (OGM) using the Bionano Genomics Saphyr system.
- Conditions
- Developmental Disability, Intellectual Disability, Autism Spectrum Disorder, Congenital Anomaly
- Trial name
- NCT05295277
- Testing
- Standard of care genetic testing group
- Where
- 8 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Bionano Genomics
Primary Disease Fascioscapulohumeral Dystrophy (FSHD)
Routine Health Care of Patients With FSHD
On the basis of published data and our results indicating that oxidative stress may contribute to the peripheral skeletal muscle dysfunction in patients with FSHD, investigators conducted a pilot randomized double-blind placebo…
- Trial name
- FSHD (NCT02622438)
- Testing
- Followed with an initial assessment, 12 months and followed annually corresponding to the usual follow-up of the patient.
- Where
- France
- Volunteers
- 189 people
- Sponsor
- University Hospital, Montpellier
Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT)
Personalized Training for People With Rare Neuromuscular Disorders
The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders…
- Conditions
- Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT), Facioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy Type 1 (DM1)
- Trial name
- PETRA-NMD (NCT06708468)
- Testing
- Exercise, Usual Care
- Where
- 5 sites in Norway
- Volunteers
- 120 people
- Sponsor
- Oslo University Hospital
FSHD
New Biomarkers in Facioscapulohumeral Muscular Dystrophy, Multispectral Optoacoustic Tomography.
Facioscapulohumeral Muscular Dystrophy (FSHD) is one of the most frequent muscular dystrophies in the adulthood. Multi-spectral optoacoustic tomography (MSOT) is an innovative imaging technique able to non-invasively characterize…
- Trial name
- MSOT-FSHD (NCT05902884)
- Testing
- MSOT Acuity Echo
- Where
- Italy
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS