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Congenital Myasthenic Syndrome clinical trials

View clinical trials related to Congenital Myasthenic Syndrome.

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NCT ID: NCT06078553 Recruiting - Clinical trials for Congenital Myasthenic Syndrome

A Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes (CMS)

Start date: February 13, 2024
Phase:
Study type: Observational

Participants will attend up to 3 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with DOK7-CMS better and may inform future study design.

NCT ID: NCT05687474 Recruiting - Cystic Fibrosis Clinical Trials

Baby Detect : Genomic Newborn Screening

Start date: September 1, 2022
Phase:
Study type: Observational

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

NCT ID: NCT05408702 Completed - Myasthenia Gravis Clinical Trials

Exercise in Autoimmune Myasthenia Gravis and Myasthenic Syndromes

MYaEX
Start date: November 12, 2021
Phase:
Study type: Observational

A few recent observational studies show that despite the lack of clear recommendations, many individuals with myasthenia participate in exercise. However, no link has been found between exercise and the severity of myasthenia symptoms, measured by the Muscle Myasthenia Score or the Myasthenia Gravis Composite Score. This suggests that there are other factors that may limit or prevent some individuals from being active, or factors which may facilitate participation in exercise. Studies in other diseases have shown that there are internal (beliefs, motivation, etc.) and external (cost, accessibility, etc.) factors unrelated to the disease which may play a role in exercise participation. The aim of this study is to identify factors that facilitate or limit exercise in individuals with autoimmune myasthenia gravis, congenital myasthenia syndrome and Lambert-Eaton syndrome.

NCT ID: NCT03062631 No longer available - Clinical trials for Congenital Myasthenic Syndrome

Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia

Start date: n/a
Phase:
Study type: Expanded Access

Congenital myasthenia is a potentially lethal disorder, which, even with careful management, significantly impedes participation in normal daily functions. Currently approved therapies have had little impact on promoting a normal quality of life activity in these patients. The goal is to systematically examine the effect of 3,4-DAP on the natural course of this disease and to gain additional experience in titrating 3,4-DAP with other available therapies to maximize clinical function and development in this patient population. The specific aim of this study is to evaluate the use of 3,4 Diaminopyridine (DAP) on selected patients proven by genetic or serum antibody testing to have Congenital Myasthenic Syndrome (CMS), prescribe 3,4 DAP, and then clinically evaluate the response.

NCT ID: NCT02189720 No longer available - Clinical trials for Congenital Myasthenic Syndrome

Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS),Congenital Myasthenic Syndrome

EAP-001
Start date: n/a
Phase:
Study type: Expanded Access

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 until the product became commercially available. Secondary: The secondary objective of this study under the original protocol was to provide additional long-term safety data on amifampridine phosphate in patients. Primary The primary objective of this study after its fifth amendment was to provide access to amifampridine phosphate therapy to pediatric patients with LEMS, and pediatric and adult patients with CMS until the product became commercially available for these indications or development of the product for the indication was terminated. Secondary: The secondary objective of this study after its fifth amendment was to assess the long-term safety of amifampridine phosphate in pediatric patients with LEMS, and pediatric and adult patients with CMS.

NCT ID: NCT01474980 Completed - Clinical trials for Congenital Myasthenic Syndrome

Pregnancy Outcomes in Congenital Myasthenie Syndrome

POCoMS
Start date: January 2010
Phase: N/A
Study type: Observational

This is a retrospective study that follows the clinical evolution, the pregnancy and the post-partum perioad of female patients with Congenital Myasthenic Syndrome.

NCT ID: NCT01403402 Recruiting - Clinical trials for Limb-Girdle Muscular Dystrophy

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

CMDPROS
Start date: September 2009
Phase:
Study type: Observational [Patient Registry]

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 Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: 1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. 2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.

NCT ID: NCT01203592 Completed - Clinical trials for Congenital Myasthenic Syndrome

Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes

Start date: September 2010
Phase: Phase 1
Study type: Interventional

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.

NCT ID: NCT00872950 Approved for marketing - Clinical trials for Congenital Myasthenic Syndrome

3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS)

LEMS
Start date: n/a
Phase:
Study type: Expanded Access

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).