Clinical trials: Congenital Myasthenic Syndrome
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 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)
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
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.
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
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
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Myasthenic Syndromes, Congenital
Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes
This randomized, double-blind, controlled, outpatient two-period, two-treatment crossover study is designed to evaluate the efficacy and safety of amifampridine phosphate in patients (ages 2 and above) diagnosed with certain…
- Trial name
- NCT02562066
- Testing
- amifampridine phosphate
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- Catalyst Pharmaceuticals, Inc.
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
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
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
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
- 152 people
- Sponsor
- argenx