Clinical trials: Congenital Myasthenic Syndrome
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
Myasthenic Syndromes, Congenital
Treatment Use of 3,4-Diaminopyridine
This protocol provided 3,4 diaminopyridine (DAP) under a treatment-use IND to patients with congenital myasthenic syndrome (CMS). It is now closed.
- Trial name
- NCT01765140
- Testing
- 3,4-diaminopyridine
- Where
- United States
- Sponsor
- Vern C. Juel, M.D.
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
Spinal Muscular Atrophy, Muscular Dystrophy
National Registry for Egyptian Pediatric Neuromuscular Diseases
Our aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.
- Conditions
- Spinal Muscular Atrophy, Muscular Dystrophy, Muscle Diseases, Myasthenic Syndromes
- Trial name
- NCT02124616
- Where
- Egypt
- Volunteers
- 200 people
- Sponsor
- Ain Shams University
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
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
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
Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenia (CM)
3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)
Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder which affects the nerve-muscle junction. The major symptoms of LEMS are progressive muscle weakness.
- Trial name
- NCT02012933
- Testing
- 3,4-diaminopyridine
- Where
- United States
- Sponsor
- Oregon Health and Science University
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 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.
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
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
Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes
The study tests the notion that patients suffering from certain types of congenital myasthenic syndromes are benefitted by the use of Albuterol at doses used in clinical practice.
- Trial name
- NCT01203592
- Testing
- Albuterol
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Mayo Clinic
Myasthenic Syndromes, Congenital
Ephedrine for the Treatment of Congenital Myasthenia
Previous research has demonstrated possible efficacy of Ephedrine in the treatment of congenital myasthenia caused by end-plate acetylcholinesterase deficiency.
- Trial name
- NCT00541216
- Testing
- Ephedrine
- Where
- Israel
- Volunteers
- 15 people
- Sponsor
- Hadassah Medical Organization
Lambert Eaton Myasthenic Syndrome (LEMS)
Treatment of Lambert-Eaton Myasthenic Syndrome (LEMS) With 3, 4 DAP
Lambert Eaton Myasthenic Syndrome (LEMS) is rare neurological disorder that results in muscle weakness and limited reflex activity.
- Trial name
- NCT01378546
- Testing
- 3,4-diaminopyridine
- Where
- United States
- Sponsor
- Louis H. Weimer, MD
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 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
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
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
Congenital Myasthenic Syndrome
Pregnancy Outcomes in Congenital Myasthenie Syndrome
This is a retrospective study that follows the clinical evolution, the pregnancy and the post-partum perioad of female patients with Congenital Myasthenic Syndrome.
- Trial name
- POCoMS (NCT01474980)
- Volunteers
- 25 people
- Sponsor
- Institut de Myologie, France