Clinical trials: Congenital Myasthenia Syndrome
Motor Disorders
Patients With ALS and Other Motor Disorders Will be Treated With Umbilical or Placental Mesenchymal Cell Exosome Solution
Patients with ALS and other Motor Discorders will be treated with mesenchymal cell exosome solution.
- Trial name
- NCT07105371
- Testing
- Exosome Secretome
- Where
- 2 sites in United States, Greece
- Volunteers
- 70 people
- Sponsor
- The Foundation for Orthopaedics and Regenerative Medicine
Autoimmune Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome
Exercise in Autoimmune Myasthenia Gravis and Myasthenic Syndromes
A few recent observational studies show that despite the lack of clear recommendations, many individuals with myasthenia participate in exercise.
- Conditions
- Autoimmune Myasthenia Gravis, Lambert-Eaton Myasthenic Syndrome, Congenital Myasthenic Syndrome, Myasthenia Gravis
- Trial name
- MYaEX (NCT05408702)
- Where
- France
- Volunteers
- 500 people
- Sponsor
- Institut de Myologie, France
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
Alpha-Thalassemia, Beta-Thalassemia
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases.
- Conditions
- Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis
- Trial name
- NCT06539169
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- xCures
Lambert-Eaton Myasthenic Syndrome, Congenital Myasthenic Syndrome
3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS)
The purpose of this study is to determine the effectiveness and adverse effects of 3,4-diaminopyridine for the treatment of the Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenic Syndromes (CMS).
- Trial name
- LEMS (NCT00872950)
- Testing
- 3,4-DIAMINOPYRIDINE
- Where
- United States
- Sponsor
- Lahey Clinic
Cystic Fibrosis, Hemophilia A
Medication Adherence and Non-adherence in Adults With Rare Disease
The purpose of this study is to use the Medication Adherence Reasons Scale (MAR-Scale) to determine the extent of non-adherence to specific medications indicated to treat cystic fibrosis, hemophilia (A or B), idiopathic pulmonary…
- Conditions
- Cystic Fibrosis, Hemophilia A, Hemophilia B, Idiopathic Pulmonary Fibrosis
- Trial name
- NCT04541875
- Testing
- MAR-Scale
- Volunteers
- healthy volunteers welcome
- Sponsor
- Xperiome
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
Post-Acute COVID-19 Syndrome, ME/CFS
Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research
The unhide® Project is a non-interventional, longitudinal research study designed to establish a secure data repository of demographic, health, and lifestyle information from individuals with brain inflammation and related…
- Conditions
- Post-Acute COVID-19 Syndrome, ME/CFS, Rheumatic Arthritis, Juvenile Rheumatoid Arthritis (JRA)
- Trial name
- NCT04806620
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Brain Inflammation Collaborative
Neuromuscular Diseases, Obesity (Disorder)
Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement.
- Conditions
- Neuromuscular Diseases, Obesity (Disorder), Myotonic Dystrophy 1, Myasthenic Syndrome
- Trial name
- Acti-Adult (NCT07136844)
- Testing
- Syde, Dynamometric measurements of muscle strength, The 6-minute walk test (6MWT)
- Where
- Belgium
- Volunteers
- 300 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
Congenital Myasthenic Syndrome, CMS
A Phase 1b Study to Investigate Safety and Tolerability of ARGX-119 in Adult Participants With DOK7-Congenital Myasthenic Syndromes (CMS)
The purpose of this study is to assess the safety and tolerability of ARGX-119 in adult participants with DOK7- Congenital Myasthenic Syndromes.
- Trial name
- NCT06436742
- Testing
- ARGX-119
- Where
- 9 sites in United States, Canada and 4 more
- Volunteers
- 15 people
- Sponsor
- argenx
Inclusion Body Myositis, Myotonic Dystrophy
The Risk of Falls Index for Patients With Neuromuscular Disorders
The combination of short quantitatively assessing muscular function and balance in combination with short clinical scores, can be a new valid approach to evaluate the patient risk of fall and help to create a quick checkup test…
- Conditions
- Inclusion Body Myositis, Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophies, Myasthenia Gravis
- Trial name
- NCT05890833
- Testing
- The risk of falls
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- LMU Klinikum
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
Attention Deficit Disorder With Hyperactivity, Asthma
Study of an Intervention to Improve Problem List Accuracy and Use
The aim of this study is to identify patients with problem list gaps and intervene to correct these gaps by creating clinical decision support interventions that alert providers to likely problem list gaps and offer clinicians…
- Conditions
- Attention Deficit Disorder With Hyperactivity, Asthma, COPD, Breast Cancer
- Trial name
- MAPLE (NCT01105923)
- Testing
- MAPLE
- Where
- United States
- Volunteers
- 140 people
- Sponsor
- Brigham and Women's Hospital
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Congenital Myasthenic Syndrome
Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia
Congenital myasthenia is a potentially lethal disorder, which, even with careful management, significantly impedes participation in normal daily functions.
- Trial name
- NCT03062631
- Testing
- 3,4-Diaminopyridine
- Where
- United States
- Sponsor
- Ricardo Maselli
Congenital Myasthenic Syndrome, Lambert-Eaton Myasthenic Syndrome
Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS),Congenital Myasthenic Syndrome
Primary: The primary objective of this study under the original protocol was to provide neuromuscular specialists and neurologists access to amifampridine phosphate therapy for their patients with LEMS, CMS or downbeat nystagmus…
- Conditions
- Congenital Myasthenic Syndrome, Lambert-Eaton Myasthenic Syndrome, Nystagmus, Acquired
- Trial name
- EAP-001 (NCT02189720)
- Testing
- Amifampridine Phosphate
- Where
- United States
- Sponsor
- Catalyst Pharmaceuticals, Inc.
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
Stroke, Ischemic, Stroke Hemorrhagic
Exploring Accessible Beauty for Individuals With Upper Extremity Deficits
The purpose of this study is to investigate the accessibility of beauty products for individuals with upper extremity disabilities.
- Conditions
- Stroke, Ischemic, Stroke Hemorrhagic, Stroke (CVA) or TIA, Stroke, Acute
- Trial name
- NCT05945784
- Testing
- Use of Rare Beauty makeup products
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- Casa Colina Hospital and Centers for Healthcare
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