Clinical trials: Myopathy
Muscular Dystrophies, Muscle Myopathies
Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Background: Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known.
- Conditions
- Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies
- Trial name
- NCT01568658
- Where
- United States
- Volunteers
- 2,586 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Idiopathic Inflammatory Myopathy, Dermatomyositis
RESET-Myositis: An Open-Label Study to Evaluate the Safety and Efficacy of CABA-201 in Subjects With Active Idiopathic Inflammatory Myopathy or Juvenile Idiopathic Inflammatory Myopathy
RESET-Myositis: Open-Label Study to Evaluate the Safety and Efficacy of CABA-201 in Subjects with Active Idiopathic Inflammatory Myopathy or Juvenile Idiopathic Inflammatory Myopathy
- Conditions
- Idiopathic Inflammatory Myopathy, Dermatomyositis, Anti-Synthetase Syndrome, Immune-Mediated Necrotizing Myopathy
- Trial name
- NCT06154252
- Testing
- CABA-201 following preconditioning with fludarabine and cyclophosphamide
- Where
- 38 sites in United States, Germany and 2 more
- Volunteers
- 74 people
- Sponsor
- Cabaletta Bio
Ryanodine Receptor 1-Related Myopathy, Ryanodine Receptor 1 Related Disorders
A Natural History Study of RYR1-Related Disorders
Background: Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene.
- Trial name
- NCT06287762
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
X-linked Myotubular Myopathy
A Long-term Follow-up Study in Male Participants With X-linked Myotubular Myopathy Treated With ASP2957
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM.
- Trial name
- NCT07876804
- Testing
- ASP2957
- Volunteers
- 9 people
- Sponsor
- Astellas Gene Therapies
Rheumatoid Arthritis, Systemic Lupus Erythematosus
Study of Families With Twins or Siblings Discordant for Rheumatic Disorders
This study will examine families in which one sibling of a sibling pair, or twin pair, has developed a systemic rheumatic disease and one has not, to see if and how the two differ in the following: Blood cell metabolism; Types of…
- Conditions
- Rheumatoid Arthritis, Systemic Lupus Erythematosus, Idiopathic Inflammatory Myopathies
- Trial name
- NCT00055055
- Where
- 3 sites in United States
- Volunteers
- 1,056 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Systemic Sclerosis Cutaneous Lupus E Myopathies Systemic Lupus Erythematosus
Rollover Study for Participants Who Have Completed a Previous Clinical Study With Anifrolumab (Saphnelo) and Clinically Benefited From Continued Treatment
The purpose of this study is to provide continued access to anifrolumab to eligible participants who are continuing to derive clinical benefit from treatment at the end of a parent clinical study, as assessed by the Investigator…
- Trial name
- ROSY-S (NCT07691970)
- Testing
- Anifrolumab
- Where
- 128 sites in United States, Argentina and 33 more
- Volunteers
- 1,072 people
- Sponsor
- AstraZeneca
X-Linked Myotubular Myopathy
A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness.
- Trial name
- EXCEL (NCT06581146)
- Testing
- No Intervention
- Where
- 11 sites in United States, Canada and 1 more
- Volunteers
- 50 people
- Sponsor
- Astellas Gene Therapies
GNE Myopathy, GNE Related Diseases
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Background: GNE Myopathy is a disease that causes walking difficulties and increasing muscle weakness. It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg muscles.
- Trial name
- NCT01417533
- Where
- United States
- Volunteers
- 78 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Systememic Lupus Erythematosus, Systemic Sclerosis (SSc)
Investigation of Type I Interferon Excess in Patients With Systemic Autoimmune Diseases and Genetic Type I Interferonopathies
Systemic autoimmune diseases associated with type I interferon (IFN-I) dysregulation, such as systemic lupus erythematosus, systemic sclerosis, myositis, and mixed or undifferentiated connective tissue diseases, and genetic type…
- Conditions
- Systememic Lupus Erythematosus, Systemic Sclerosis (SSc), Inflammatory Myopathies, Connective Tissue Diseases
- Trial name
- SAFRAN (NCT07837986)
- Testing
- biological samples
- Where
- 3 sites in France
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Primary Mitochondrial Disease
Natural History Study of Mitochondrial Myopathy
The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM).
- Trial name
- NCT05250375
- Where
- United States
- Volunteers
- 1,300 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
PolG, Primary Mitochondrial Myopathy
Prospective Natural History Study of POLG Disease
The PIONEER study is a prospective, natural history study dedicated to characterizing the clinical progression of POLG-related disorders.
- Trial name
- PIONEER (NCT07775872)
- Where
- 21 sites in United States, Australia and 7 more
- Volunteers
- 300 people
- Sponsor
- The POLG Foundation
X-Linked Myotubular Myopathy
A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM)
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no therapies for this serious condition.
- Trial name
- ASPIRO (NCT03199469)
- Testing
- Resamirigene bilparvovec
- Where
- 6 sites in United States, Canada and 2 more
- Volunteers
- 27 people
- Sponsor
- Astellas Gene Therapies
X-Linked Myotubular Myopathy
Study of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM.
- Trial name
- NCT07052929
- Testing
- ASP2957, Methylprednisolone, Prednisolone
- Where
- 5 sites in United States, Canada
- Volunteers
- 9 people
- Sponsor
- Astellas Gene Therapies
Autoimmune/Connective Tissue Diseases, Idiopathic Inflammatory Myopathies
Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases
This study will define the major genetic risk and protective factors for idiopathic inflammatory myopathies (IIM), a group of immune disorders affecting connective tissues such as muscles.
- Conditions
- Autoimmune/Connective Tissue Diseases, Idiopathic Inflammatory Myopathies, Polymyositis, Dermatomyositis
- Trial name
- NCT00341679
- Where
- United States
- Volunteers
- 719 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Dystrophinopathy, Muscular Dystrophies
VirtualPark_Pediatric
The goal of this clinical trial is to assess the effects of a dual-task, multimodal training program on slowing functional motor decline in children and adolescents with neuromuscular disorders.
- Conditions
- Dystrophinopathy, Muscular Dystrophies, Congenital Myopathies
- Trial name
- NCT07580365
- Testing
- Dual-task cycling, Standard therapy
- Where
- 4 sites in Italy
- Volunteers
- 22 people
- Sponsor
- Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato
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
Anti-3-hydroxy-3-methylglutaryl-CoA Reductase (HMGCR) Immune-Mediated Necrotizing Myopathy
The MIGHT Trial - An Exploratory Clinical Trial of IVIG in Anti-HMGCR Immune Mediated Necrotizing Myopathy
This is a randomized, placebo-controlled, double blinded phase 2 exploratory clinical trial of intravenously administered pooled human immunoglobulin (IVIG) in anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune mediated…
- Trial name
- NCT06599697
- Testing
- Intravenously administered pooled human immunoglobulin (IVIG)
- Where
- 5 sites in United States
- Volunteers
- 12 people
- Sponsor
- University of Alabama at Birmingham
Long Chain Fatty Acid Oxidation Disorders
Expanded Access to Triheptanoin
Expanded access may be provided for qualified patients who have limited treatment options and are not eligible for a clinical trial.
- Trial name
- NCT03773770
- Testing
- Triheptanoin
- Sponsor
- Ultragenyx Pharmaceutical Inc
Rheumatoid Arthritis (RA), Juvenile Idiopathic Arthritis (JIA)
Safety and Immunogenicity of the Live Attenuated Tetravalent Butantan-Dengue Vaccine in Autoimmune Rheumatic Diseases
The goal of this clinical trial is to evaluate whether the live attenuated tetravalent Butantan-Dengue vaccine (Butantan-DV) is safe and capable of inducing an immune response in patients aged 12 to 59 years with autoimmune…
- Conditions
- Rheumatoid Arthritis (RA), Juvenile Idiopathic Arthritis (JIA), Systemic Lupus Erythematosus (SLE), Juvenile Systemic Lupus Erythematosus
- Trial name
- BTNDV-ARD (NCT07087912)
- Testing
- Dengue 1,2,3,4 (attenuated) vaccine
- Where
- 2 sites in Brazil
- Volunteers
- 477 people, healthy volunteers welcome
- Sponsor
- University of Sao Paulo General Hospital