Clinical trials: Congenital Myasthenic Syndrome, open to volunteers
Congenital Myasthenic Syndrome, CMS
A Study to Assess Efficacy and Safety of Adimanebart in Adult and Pediatric Participants With DOK7-,MUSK-, AGRN-, or LRP4- Congenital Myasthenic Syndromes (CMS)
The purpose of this study is to assess efficacy and safety of adimanebart in participants at least 12 years of age with DOK7-, MUSK-, AGRN-, or LRP4- Congenital Myasthenic Syndromes (CMS).
- Trial name
- CoMetS (NCT07746089)
- Testing
- Adimanebart IV
- Volunteers
- 105 people
- Sponsor
- argenx
Congenital Myasthenic Syndrome
Patients With Congenital Myasthenic Syndrome Will be Treated With Umbilical or Placental Derived Mesenchymal Stem Cell Exosome Solution
Patients with Congenital Myasthenic Syndrome will be treated with Umbilical or Placental Derived Mesenchymal Stem Cell Exosome solution.
- Trial name
- NCT07226726
- Testing
- AlloEx exosomes
- Where
- 2 sites in United States, Greece
- Volunteers
- 20 people
- Sponsor
- The Foundation for Orthopaedics and Regenerative Medicine
Congenital Myasthenic Syndrome
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7…
- Trial name
- NCT06078553
- Where
- 33 sites in United States, Austria and 10 more
- Volunteers
- 100 people
- Sponsor
- argenx
Congenital Myasthenia Syndrome
Evaluating the Safety and Effects of AMP-101 in People With DOK7 Congenital Myasthenia Syndrome
This study is evaluating the safety and potential effects of AMP-101 in people with DOK7 Congenital Myasthenia Syndrome (CMS). Participants will receive a single dose of the study treatment and will be monitored to assess their…
- Trial name
- NCT07830563
- Testing
- AMP-101
- Volunteers
- 4 people
- Sponsor
- Amplo Biotechnology
Myasthenic Syndromes, Congenital
A Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
Background: Congenital myasthenic syndromes (CMSs) are a group of inherited disorders that affect how the nerves communicate with muscles. These can cause many problems that affect how people can move and use their bodies.
- Trial name
- NCT06630650
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD).
- Conditions
- Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis, Myasthenia Gravis, Lambert-eaton Myasthenic Syndrome
- Trial name
- NCT07478172
- Testing
- Whole-body Electrical Muscle Stimulation Exercise
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Missouri-Columbia
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD