Clinical trials: Congenital Myopathy
Oculopharyngeal Muscular Dystrophy
Screening in Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathic disease that results in progressive degeneration of the oral and pharyngeal muscular, resulting in severe dysphagia and dysarthria.
- Trial name
- NCT02877784
- Testing
- Videofluoroscopic swallowing study, Functional Oral Intake Scale, Eating Assessment Tool-10
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of Florida
Executive Dysfunction, Occupational Problems
Investigation of the Relationship Between Executive Functions and Occupational Performance of Children With Duchenne Muscular Dystrophy
The effects of Duchenne muscular dystrophy and its treatments on executive functions and occupational performance are under-mentioned in the literature.
- Conditions
- Executive Dysfunction, Occupational Problems, Duchenne Muscular Dystrophy
- Trial name
- NCT06868784
- Testing
- Evaluations
- Where
- Turkey (Türkiye)
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Lokman Hekim University
Muscular Dystrophies
Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)
Limb girdle muscular dystrophy type 2D (LGMD2D) is a genetic disease that affects skeletal muscle. Insufficient levels of the protein alpha-sarcoglycan result in muscle weakness that worsens over time.
- Trial name
- NCT00494195
- Testing
- rAAV1.tMCK.human-alpha-sarcoglycan- First cohort, Genetic: rAAV1.tMCK.human-alpha-sarcoglycan- Second cohort
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Nationwide Children's Hospital
Dermatomyositis, Glycogen Storage Disease Type II
Genetic and Family Studies of Inherited Muscle Diseases
The purposes of this study are to identify gene mutations in patients with the muscle diseases phosphofructokinase (PFK) deficiency, acid maltase deficiency (GAA deficiency) and to learn more about how these diseases develop.
- Conditions
- Dermatomyositis, Glycogen Storage Disease Type II, Glycogen Storage Disease Type VII, Myositis
- Trial name
- NCT00001331
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Limb-Girdle Muscular Dystrophy
Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy
The objective of this study is to identify and maintain a registry of well-characterized limb-girdle muscular dystrophy (LGMD) patients.
- Trial name
- NCT00457912
- Where
- United States
- Volunteers
- 277 people
- Sponsor
- Nationwide Children's Hospital
Duchenne Muscular Dystrophy
A Study to Assess Vamorolone in Boys Ages 2 to <4 Years and 7 to <18 Years With Duchenne Muscular Dystrophy (DMD)
This Phase II study is an open-label, multiple dose study to evaluate the safety, tolerability, PK, PD, clinical efficacy, behavior and neuropsychology, and physical functioning vamorolone over a treatment period of 12 weeks in…
- Trial name
- NCT05185622
- Testing
- Vamorolone
- Where
- 5 sites in Canada
- Volunteers
- 54 people
- Sponsor
- Santhera Pharmaceuticals
Myotonic Dystrophy 1, DM1
Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and…
- Trial name
- NCT03981575
- Where
- 17 sites in United States, Canada and 5 more
- Volunteers
- 700 people
- Sponsor
- Virginia Commonwealth University
Myotonic Dystrophy 1
Home-based Training and Supplementation in DM1 Patients
Myotonic dystrophy type 1 (DM1) is a rare genetic disease that affects about 1 in 2100 people. Patients diagnosed with DM1 present with many symptoms, however, their muscles are mainly affected.
- Trial name
- DM1HBET (NCT05848830)
- Testing
- Mult-ingredient supplement, Concurrent exercise training
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McMaster University
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Applying the Pathways and Resources for Engagement and Participation Protocol Among People With Muscles Dystrophies
Taking part in community activities is essential for health and well-being. Yet, it is highly restricted for young people with Duchenne and Becker Muscular Dystrophies (DBMD), especially as they grow into adulthood.
- Trial name
- NCT06540365
- Testing
- Pathways and Resources for Engagement and Participation (PREP)
- Volunteers
- 6 people
- Sponsor
- University of Haifa
Duchenne Muscular Dystrophy
Extension Study of Drisapersen in DMD Subjects
This is a phase IIIb, multi-centre, open-label extension study in male subjects with DMD who previously have been treated with drisapersen, aiming at assessing the safety and efficacy of drisapersen.
- Trial name
- NCT02636686
- Testing
- Drisapersen
- Where
- 39 sites in United States, Argentina and 18 more
- Sponsor
- BioMarin Pharmaceutical
Myotonic Dystrophy
Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients
Myotonic dystrophy Type 1 (MD1, Steinert's disease), an autosomal dominant multisystem disease, is of the most common muscular dystrophies in adults, with a European prevalence of 3-15/100 000.
- Trial name
- NCT01242007
- Testing
- Supine spirometry
- Where
- France
- Volunteers
- 58 people
- Sponsor
- University of Nancy
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
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
Myopathy, Neuropathy
Identification of Tongue Involvement in Late-Onset Pompe Disease
This purpose of this study is to determine if tongue strength and tongue ultrasound measurements differentiates patients with untreated late-onset Pompe Disease (LOPD) from patients with acquires/hereditary myopathies or…
- Conditions
- Myopathy, Neuropathy, Glycogen Storage Disease Type II (Late-onset Pompe Disease)
- Trial name
- NCT02765828
- Testing
- Observational study
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Duke University
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
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum
Duchenne Muscular Dystrophy
A Study of ATL1102 or Placebo in Participants With Non-ambulatory Duchenne Muscular Dystrophy
This Phase IIb study is a two part, multicenter study to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of ATL1102 in non-ambulant boys with Duchenne Muscular Dystrophy aged 10 to <18 years old.
- Trial name
- NCT05938023
- Testing
- ATL1102 25mg, ATL1102 50mg
- Where
- 13 sites in Australia, Bulgaria and 3 more
- Volunteers
- 48 people
- Sponsor
- Percheron Therapeutics
Myotonic Dystrophy Type 1 and Type 2
Study to Investigate the Efficacy and Safety of Mexiletine in Patients With Myotonic Dystrophy Type 1 and Type 2
A Randomized, Double-blind, Placebo-controlled, Multi-center Study to Investigate the Efficacy and Safety of Mexiletine During 26 Weeks of Treatment in Patients with Myotonic Dystrophy Type 1 and Type 2 [The MIND Study]
- Trial name
- MIND (NCT04700046)
- Testing
- Mexiletine 167 mg
- Sponsor
- Lupin Ltd.
Duchenne Muscular Dystrophy (DMD)
E-monitoring of PULMonary Function in Patients With Duchenne Muscular Dystrophy at Home"
Duchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. The pulmonary function is crucial for the duration of life in this disease.
- Trial name
- E-PULMoDMD (NCT05516745)
- Testing
- AioCare spirometer, telerehabiliation of the respiratory system
- Where
- Poland
- Volunteers
- 200 people
- Sponsor
- Medical University of Gdansk
Duchenne Muscular Dystrophy, Burden, Dependency
Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families
The purpose of this study is to improve the understanding of the treatment goals that a person with Duchenne Muscular Dystrophy (DMD) or the caregiver may be most interested in, based on the severity of the person's disease.
- Conditions
- Duchenne Muscular Dystrophy, Burden, Dependency, Disability Physical, Disease Management
- Trial name
- NCT03680365
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Jett Foundation, Inc.
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